DiseaseID 17252

无肢畸形

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Disease: 1Experiment: 12Formula: 24Herb: 12Symptom: 12Target: 33Links: 95

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Disease Id: 17252
Core Entity Id: 75455
Source Entity Count: 1
Preferred Name: Amelia
Name Cn: 无肢畸形
Name Pinyin: Wu Zhi Ji Xing
Name En: Amelia
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Cell or Molecular Dysfunction
Disgenet Type: disease
Mesh Class: Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCardiovascular DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Eye DiseasesCardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System DiseasesCardiovascular Diseases; Mental Disorders; Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Nutritional and Metabolic Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Endocrine System DiseasesCardiovascular Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Neoplasms; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCardiovascular Diseases; Nervous System Diseases; NeoplasmsCardiovascular Diseases; Respiratory Tract DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsDigestive System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesDigestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsEndocrine System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesEye DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Musculoskeletal DiseasesEye Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesEye Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsEye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsEye Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Skin and Connective Tissue DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System DiseasesHemic and Lymphatic DiseasesHemic and Lymphatic Diseases; Otorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsHemic and Lymphatic Diseases; Pathological Conditions, Signs and SymptomsImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesImmune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Endocrine System DiseasesMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Wounds and Injuries; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsNeoplasmsNeoplasms; Musculoskeletal DiseasesNeoplasms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Pathological Conditions, Signs and SymptomsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous System Diseases; Endocrine System DiseasesNervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesNervous System Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsNervous System Diseases; Musculoskeletal DiseasesNervous System Diseases; NeoplasmsNervous System Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Musculoskeletal DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesRespiratory Tract Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesStomatognathic Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Do Class: disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; physical disorderdisease of anatomical entity; genetic disease; physical disorder; syndromedisease of anatomical entity; genetic disease; syndromedisease of anatomical entity; physical disorderdisease of anatomical entity; syndromedisease of mental health; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolismphysical disorderphysical disorder; disease of mental health; genetic disease; syndrome; disease of anatomical entitysyndromesyndrome; genetic disease
Hpo Class: Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of limbsAbnormality of metabolism/homeostasisAbnormality of the cardiovascular systemAbnormality of the earAbnormality of the endocrine system; Abnormality of the genitourinary systemAbnormality of the eyeAbnormality of the eye; Abnormality of the nervous systemAbnormality of the genitourinary systemAbnormality of the integumentAbnormality of the musculatureAbnormality of the musculature; Abnormality of limbsAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the digestive systemAbnormality of the nervous system; Abnormality of the endocrine systemAbnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbsAbnormality of the skeletal system; NeoplasmGrowth abnormality; Abnormality of the nervous system; Abnormality of the endocrine systemNeoplasm; Abnormality of the nervous system
Mesh Class Name: Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Endocrine System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesDigestive System DiseasesEndocrine System DiseasesEye DiseasesEye Diseases; Cardiovascular DiseasesEye Diseases; Nervous System DiseasesEye Diseases; Skin and Connective Tissue DiseasesFemale Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesHemic and Lymphatic DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Nervous System DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesMusculoskeletal Diseases; Respiratory Tract DiseasesMusculoskeletal Diseases; Stomatognathic DiseasesNeoplasmsNeoplasms; Musculoskeletal DiseasesNeoplasms; Nervous System DiseasesNeoplasms; Nervous System Diseases; Cardiovascular DiseasesNervous System DiseasesNervous System Diseases; Endocrine System DiseasesNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and InjuriesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Neoplasms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsRespiratory Tract Diseases; Cardiovascular DiseasesSkin and Connective Tissue Diseases; Musculoskeletal Diseases
Hpo Class Name: Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of limbsAbnormality of limbs; Abnormality of the musculatureAbnormality of limbs; Abnormality of the skeletal systemAbnormality of metabolism/homeostasisAbnormality of the cardiovascular systemAbnormality of the digestive system; Abnormality of the nervous systemAbnormality of the earAbnormality of the endocrine system; Abnormality of the nervous systemAbnormality of the endocrine system; Abnormality of the nervous system; Growth abnormalityAbnormality of the eyeAbnormality of the genitourinary systemAbnormality of the genitourinary system; Abnormality of the endocrine systemAbnormality of the integumentAbnormality of the musculatureAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the eyeAbnormality of the nervous system; NeoplasmAbnormality of the skeletal systemNeoplasm; Abnormality of the skeletal system
Do Class Name: disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; physical disorderdisease of anatomical entity; syndromedisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromegenetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disordergenetic disease; disease of anatomical entity; syndrome; physical disordergenetic disease; disease of mental healthgenetic disease; syndromephysical disordersyndrome
Disease Definition: 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less seve
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Amelia

Role

preferred

Name

12Q14 Microdeletion Syndrome

Role

preferred

Name

14Q12 Microdeletion Syndrome

Role

preferred

Name

15Q24 Microdeletion Syndrome

Role

preferred

Name

16Q24.3 Microdeletion Syndrome

Role

preferred

Name

17Q12 Microdeletion Syndrome

Role

preferred

Name

17Q23.1Q23.2 Microdeletion Syndrome

Role

preferred

Name

1P21.3 Microdeletion Syndrome

Role

preferred

Name

20P12.3 Microdeletion Syndrome

Role

preferred

Name

2P21 Microdeletion Syndrome

Role

preferred

Name

3C Syndrome

Role

preferred

Name

46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency

Role

preferred

Name

46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy

Role

preferred

Name

46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome

Role

preferred

Name

46,Xy Sex Reversal 1

Role

preferred

Name

46,Xy Sex Reversal 3

Role

preferred

Name

46,Xy Sex Reversal 5

Role

preferred

Name

46,Xy Sex Reversal 6

Role

preferred

Name

46,Xy Sex Reversal 9

Role

preferred

Name

6Q Terminal Deletion Syndrome

Role

preferred

Name

6Q16 Deletion Syndrome

Role

preferred

Name

6Q25 Microdeletion Syndrome

Role

preferred

Name

8P11.2 Deletion Syndrome

Role

preferred

Name

8P23.1 Microdeletion Syndrome

Role

preferred

Name

9P Partial Monosomy Syndrome

Role

preferred

Name

Abruzzo-Erickson Syndrome

Role

preferred

Name

Acetazolamide-Responsive Myotonia

Role

preferred

Name

Achromatopsia 2

Role

preferred

Name

Achromatopsia 3

Role

preferred

Name

Achromatopsia 5

Role

preferred

Name

Achromatopsia 7

Role

preferred

Name

Acquired Neuromyotonia

Role

preferred

Name

Acro-Renal-Ocular Syndrome

Role

preferred

Name

Acrocallosal Syndrome, Schinzel Type

Role

preferred

Name

Acrocapitofemoral Dysplasia

Role

preferred

Name

Acrofacial Dysostosis, Cincinnati Type

Role

preferred

Name

Acromesomelic Dysplasia, Demirhan Type

Role

preferred

Name

Acromesomelic Dysplasia, Hunter-Thompson Type

Role

preferred

Name

Acromesomelic Dysplasia, Maroteaux Type

Role

preferred

Name

Acromicric Dysplasia

Role

preferred

Name

Adams-Oliver Syndrome

Role

preferred

Name

Adams-Oliver Syndrome 2

Role

preferred

Name

Adams-Oliver Syndrome 3

Role

preferred

Name

Adams-Oliver Syndrome 4

Role

preferred

Name

Adams-Oliver Syndrome 5

Role

preferred

Name

Adams-Oliver Syndrome 6

Role

preferred

Name

Adult Syndrome

Role

preferred

Name

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Role

preferred

Name

Agnathia-Otocephaly Complex

Role

preferred

Name

Aicardi-Goutieres Syndrome 1

Role

preferred

Name

Aicardi-Goutieres Syndrome 1, Autosomal Dominant

Role

preferred

Name

Aicardi-Goutieres Syndrome 2

Role

preferred

Name

Aicardi-Goutieres Syndrome 3

Role

preferred

Name

Aicardi-Goutieres Syndrome 4

Role

preferred

Name

Aicardi-Goutieres Syndrome 6

Role

preferred

Name

Albinism, Oculocutaneous

Role

preferred

Name

Albinism, Oculocutaneous, Type Vi

Role

preferred

Name

Alopecia-Mental Retardation Syndrome 1

Role

preferred

Name

Alopecia-Mental Retardation Syndrome 2

Role

preferred

Name

Androgen Insensitivity, Partial

Role

preferred

Name

Angel-Shaped Phalango-Epiphyseal Dysplasia

Role

preferred

Name

Anhydrotic Ectodermal Dysplasias

Role

preferred

Name

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 4

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 6

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 7

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 8

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 9

Role

preferred

Name

Aortic Aneurysm, Thoracic

Role

preferred

Name

Attenuated Chédiak-Higashi Syndrome

Role

preferred

Name

Auditory Neuropathy, Autosomal Dominant, 1

Role

preferred

Name

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder)

Role

preferred

Name

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

Role

preferred

Name

Band Heterotopia

Role

preferred

Name

Band Heterotopia Of Brain

Role

preferred

Name

Band-Like Calcification With Simplified Gyration And Polymicrogyria

Role

preferred

Name

Bannayan-Riley-Ruvalcaba Syndrome

Role

preferred

Name

Baraitser Brett Piesowicz Syndrome

Role

preferred

Name

Bardet Biedl Syndrome 15

Role

preferred

Name

Bardet-Biedl Syndrome

Role

preferred

Name

Bardet-Biedl Syndrome 10

Role

preferred

Name

Bardet-Biedl Syndrome 11

Role

preferred

Name

Bardet-Biedl Syndrome 12

Role

preferred

Name

Bardet-Biedl Syndrome 13

Role

preferred

Name

Bardet-Biedl Syndrome 16

Role

preferred

Name

Bardet-Biedl Syndrome 17

Role

preferred

Name

Bardet-Biedl Syndrome 18

Role

preferred

Name

Bardet-Biedl Syndrome 19

Role

preferred

Name

Bardet-Biedl Syndrome 3

Role

preferred

Name

Bardet-Biedl Syndrome 5

Role

preferred

Name

Bardet-Biedl Syndrome 6

Role

preferred

Name

Bardet-Biedl Syndrome 7

Role

preferred

Name

Bardet-Biedl Syndrome 8

Role

preferred

Name

Bardet-Biedl Syndrome 9

Role

preferred

Name

Beckwith-Wiedemann Syndrome

Role

preferred

Name

Beta-Galactosidase Deficiency

Role

preferred

Name

Beta-Sarcoglycanopathy

Role

preferred

Name

Bethlem Myopathy 2

Role

preferred

Name

Bleeding Disorder, Platelet-Type, 19

Role

preferred

Name

Borjeson-Forssman-Lehmann Syndrome

Role

preferred

Name

Bowen-Conradi Syndrome

Role

preferred

Name

Brachydactyly, Type A1, C

Role

preferred

Name

Brachydactyly, Type A1, D

Role

preferred

Name

Brachydactyly, Type E1

Role

preferred

Name

Brachydactyly-Syndactyly Syndrome

Role

preferred

Name

Brachydactyly-Syndactyly, Zhao Type

Role

preferred

Name

Branchioma

Role

preferred

Name

Bulbo-Spinal Atrophy, X-Linked

Role

preferred

Name

Buschke-Ollendorff Syndrome

Role

preferred

Name

Cardiofaciocutaneous Syndrome

Role

preferred

Name

Cardiofaciocutaneous Syndrome 1

Role

preferred

Name

Cardiofaciocutaneous Syndrome 2

Role

preferred

Name

Cardiofaciocutaneous Syndrome 3

Role

preferred

Name

Cardiofaciocutaneous Syndrome 4

Role

preferred

Name

Cartilage-Hair Hypoplasia

Role

preferred

Name

Catel-Manzke Syndrome

Role

preferred

Name

Caudal Dysgenesis Syndrome

Role

preferred

Name

Caudal Regression Syndrome

Role

preferred

Name

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Role

preferred

Name

Cerebelloparenchymal Disorder Vi

Role

preferred

Name

Cerebral Convexity Meningioma

Role

preferred

Name

Cerebrocostomandibular Syndrome

Role

preferred

Name

Char Syndrome

Role

preferred

Name

Charge Syndrome

Role

preferred

Name

Charge Syndrome, Familial

Role

preferred

Name

Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

Role

preferred

Name

Christianson Syndrome

Role

preferred

Name

Chromosome 13Q14 Deletion Syndrome

Role

preferred

Name

Chromosome 15Q26-Qter Deletion Syndrome

Role

preferred

Name

Chromosome 17Q12 Deletion Syndrome

Role

preferred

Name

Chromosome 17Q23.1-Q23.2 Deletion Syndrome

Role

preferred

Name

Chromosome 1P32-P31 Deletion Syndrome

Role

preferred

Name

Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb

Role

preferred

Name

Chromosome 6Pter P24 Deletion Syndrome

Role

preferred

Name

Chromosome 6Q24-Q25 Deletion Syndrome

Role

preferred

Name

Chromosome 9P Deletion Syndrome

Role

preferred

Name

Classical Lissencephaly

Role

preferred

Name

Codas Syndrome

Role

preferred

Name

Cohen Syndrome

Role

preferred

Name

Colorblindness, Partial, Deutan Series

Role

preferred

Name

Colorblindness, Partial, Protan Series

Role

preferred

Name

Combined Pituitary Hormone Deficiencies, Genetic Forms

Role

preferred

Name

Cone Dystrophy

Role

preferred

Name

Cone Dystrophy 4

Role

preferred

Name

Cone Dystrophy 4 (Disorder)

Role

preferred

Name

Cone Rod Dystrophy Amelogenesis Imperfecta

Role

preferred

Name

Cone-Rod Dystrophy 10

Role

preferred

Name

Cone-Rod Dystrophy 13

Role

preferred

Name

Cone-Rod Dystrophy 15

Role

preferred

Name

Cone-Rod Dystrophy 16

Role

preferred

Name

Cone-Rod Dystrophy 21

Role

preferred

Name

Congenital Amaurosis Of Retinal Origin

Role

preferred

Name

Congenital Intrauterine Infection-Like Syndrome

Role

preferred

Name

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Role

preferred

Name

Congenital Myotonic Dystrophy

Role

preferred

Name

Cortical Dysplasia, Complex, With Other Brain Malformations 1

Role

preferred

Name

Cortical Dysplasia, Complex, With Other Brain Malformations 7

Role

preferred

Name

Cortical Dysplasia-Focal Epilepsy Syndrome

Role

preferred

Name

Cowden Syndrome 3

Role

preferred

Name

Cowden Syndrome 5

Role

preferred

Name

Cowden Syndrome 6

Role

preferred

Name

Cranio-Osteoarthropathy

Role

preferred

Name

Craniodiaphyseal Dysplasia

Role

preferred

Name

Cranioectodermal Dysplasia

Role

preferred

Name

Cranioectodermal Dysplasia 1

Role

preferred

Name

Cranioectodermal Dysplasia 2

Role

preferred

Name

Cranioectodermal Dysplasia 3

Role

preferred

Name

Cranioectodermal Dysplasia 4

Role

preferred

Name

Craniometaphyseal Dysplasia

Role

preferred

Name

Craniometaphyseal Dysplasia, Autosomal Dominant

Role

preferred

Name

Currarino Syndrome

Role

preferred

Name

Currarino Triad

Role

preferred

Name

Deafness, Autosomal Dominant 10

Role

preferred

Name

Deafness, Autosomal Dominant 11

Role

preferred

Name

Deafness, Autosomal Dominant 12

Role

preferred

Name

Deafness, Autosomal Dominant 13

Role

preferred

Name

Deafness, Autosomal Dominant 15

Role

preferred

Name

Deafness, Autosomal Dominant 17

Role

preferred

Name

Deafness, Autosomal Dominant 20

Role

preferred

Name

Deafness, Autosomal Dominant 22

Role

preferred

Name

Deafness, Autosomal Dominant 23

Role

preferred

Name

Deafness, Autosomal Dominant 28

Role

preferred

Name

Deafness, Autosomal Dominant 2A

Role

preferred

Name

Deafness, Autosomal Dominant 2B

Role

preferred

Name

Deafness, Autosomal Dominant 36

Role

preferred

Name

Deafness, Autosomal Dominant 3B

Role

preferred

Name

Deafness, Autosomal Dominant 40

Role

preferred

Name

Deafness, Autosomal Dominant 44

Role

preferred

Name

Deafness, Autosomal Dominant 48

Role

preferred

Name

Deafness, Autosomal Dominant 4B

Role

preferred

Name

Deafness, Autosomal Dominant 50

Role

preferred

Name

Deafness, Autosomal Dominant 56

Role

preferred

Name

Deafness, Autosomal Dominant 6

Role

preferred

Name

Deafness, Autosomal Dominant 64

Role

preferred

Name

Deafness, Autosomal Dominant 65

Role

preferred

Name

Deafness, Autosomal Dominant 66

Role

preferred

Name

Deafness, Autosomal Dominant 67

Role

preferred

Name

Deafness, Autosomal Dominant 70

Role

preferred

Name

Deafness, Autosomal Dominant 9

Role

preferred

Name

Deafness, Autosomal Recessive 101

Role

preferred

Name

Deafness, Autosomal Recessive 102

Role

preferred

Name

Deafness, Autosomal Recessive 103

Role

preferred

Name

Deafness, Autosomal Recessive 104

Role

preferred

Name

Deafness, Autosomal Recessive 12

Role

preferred

Name

Deafness, Autosomal Recessive 15

Role

preferred

Name

Deafness, Autosomal Recessive 16

Role

preferred

Name

Deafness, Autosomal Recessive 18B

Role

preferred

Name

Deafness, Autosomal Recessive 1B

Role

preferred

Name

Deafness, Autosomal Recessive 2

Role

preferred

Name

Deafness, Autosomal Recessive 21

Role

preferred

Name

Deafness, Autosomal Recessive 22

Role

preferred

Name

Deafness, Autosomal Recessive 23

Role

preferred

Name

Deafness, Autosomal Recessive 24

Role

preferred

Name

Deafness, Autosomal Recessive 25

Role

preferred

Name

Deafness, Autosomal Recessive 28

Role

preferred

Name

Deafness, Autosomal Recessive 29

Role

preferred

Name

Deafness, Autosomal Recessive 3

Role

preferred

Name

Deafness, Autosomal Recessive 30

Role

preferred

Name

Deafness, Autosomal Recessive 31

Role

preferred

Name

Deafness, Autosomal Recessive 35

Role

preferred

Name

Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement

Role

preferred

Name

Deafness, Autosomal Recessive 37

Role

preferred

Name

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Role

preferred

Name

Deafness, Autosomal Recessive 44

Role

preferred

Name

Deafness, Autosomal Recessive 48

Role

preferred

Name

Deafness, Autosomal Recessive 49

Role

preferred

Name

Deafness, Autosomal Recessive 53

Role

preferred

Name

Deafness, Autosomal Recessive 59

Role

preferred

Name

Deafness, Autosomal Recessive 6

Role

preferred

Name

Deafness, Autosomal Recessive 61

Role

preferred

Name

Deafness, Autosomal Recessive 63

Role

preferred

Name

Deafness, Autosomal Recessive 66

Role

preferred

Name

Deafness, Autosomal Recessive 67

Role

preferred

Name

Deafness, Autosomal Recessive 68

Role

preferred

Name

Deafness, Autosomal Recessive 7

Role

preferred

Name

Deafness, Autosomal Recessive 70

Role

preferred

Name

Deafness, Autosomal Recessive 74

Role

preferred

Name

Deafness, Autosomal Recessive 76

Role

preferred

Name

Deafness, Autosomal Recessive 79

Role

preferred

Name

Deafness, Autosomal Recessive 84A

Role

preferred

Name

Deafness, Autosomal Recessive 84B

Role

preferred

Name

Deafness, Autosomal Recessive 86

Role

preferred

Name

Deafness, Autosomal Recessive 88

Role

preferred

Name

Deafness, Autosomal Recessive 89

Role

preferred

Name

Deafness, Autosomal Recessive 9

Role

preferred

Name

Deafness, Autosomal Recessive 91

Role

preferred

Name

Deafness, Autosomal Recessive 93

Role

preferred

Name

Deafness, Autosomal Recessive 98

Role

preferred

Name

Deletion Of Long Arm Of Chromosome 18

Role

preferred

Name

Dermatofibrosis Lenticularis Disseminata

Role

preferred

Name

Desbuquois Dysplasia 1

Role

preferred

Name

Desbuquois Dysplasia 2

Role

preferred

Name

Desbuquois Syndrome

Role

preferred

Name

Diaphanospondylodysostosis

Role

preferred

Name

Distal 16P11.2 Microdeletion Syndrome

Role

preferred

Name

Distal Monosomy 1Q

Role

preferred

Name

Distal Monosomy 3P

Role

preferred

Name

Distal Muscular Dystrophies

Role

preferred

Name

Donnai-Barrow Syndrome

Role

preferred

Name

Doyne Honeycomb Retinal Dystrophy

Role

preferred

Name

Drusen, Radial, Autosomal Dominant

Role

preferred

Name

Duane-Radial Ray Syndrome

Role

preferred

Name

Dysosteosclerosis

Role

preferred

Name

Dysspondyloenchondromatosis

Role

preferred

Name

Ectodermal Dysplasia

Role

preferred

Name

Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

Role

preferred

Name

Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Role

preferred

Name

Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Role

preferred

Name

Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency

Role

preferred

Name

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Role

preferred

Name

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3

Role

preferred

Name

Ectromelia

Role

preferred

Name

Eec Syndrome

Role

preferred

Name

Endocrine-Cerebroosteodysplasia

Role

preferred

Name

Episodic Ataxia Type 1

Role

preferred

Name

Eunuchoidism, Familial Hypogonadotropic

Role

preferred

Name

Exostoses, Multiple, Type Ii

Role

preferred

Name

Facioscapulohumeral Dystrophy

Role

preferred

Name

Facioscapulohumeral Muscular Dystrophy 1

Role

preferred

Name

Facioscapulohumeral Muscular Dystrophy 1A

Role

preferred

Name

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Role

preferred

Name

Feingold Syndrome 1

Role

preferred

Name

Feingold Syndrome 2

Role

preferred

Name

Floating-Harbor Syndrome

Role

preferred

Name

Fryns Syndrome

Role

preferred

Name

Fundus Albipunctatus

Role

preferred

Name

Furlong Syndrome

Role

preferred

Name

Galloway-Mowat Syndrome

Role

preferred

Name

Gangliosidosis Gm1

Role

preferred

Name

Gangliosidosis, Generalized Gm1, Type 1 (Disorder)

Role

preferred

Name

Gangliosidosis, Generalized Gm1, Type I, With Cardiac Involvement

Role

preferred

Name

Geleophysic Dysplasia

Role

preferred

Name

Generalized Myotonia Of Thomsen

Role

preferred

Name

Genitopatellar Syndrome

Role

preferred

Name

Gm1-Gangliosidosis, Type I

Role

preferred

Name

Groove Meningiomas, Olfactory

Role

preferred

Name

Hereditary Continuous Muscle Fiber Activity

Role

preferred

Name

Holoprosencephaly 10

Role

preferred

Name

Holt-Oram Syndrome

Role

preferred

Name

Hydranencephaly

Role

preferred

Name

Hydranencephaly And Abnormal Genitalia

Role

preferred

Name

Hyperostosis Corticalis Generalisata

Role

preferred

Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Role

preferred

Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Role

preferred

Name

Hypogonadism

Role

preferred

Name

Hypogonadotropic Hypogonadism

Role

preferred

Name

Hypogonadotropic Hypogonadism 1 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 10 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 11 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 13 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 14 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 17 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 18 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 19 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 20 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 21 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 22 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 23 Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 3 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 4 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 5 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 6 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 8 With Or Without Anosmia

Role

preferred

Name

Hypogonadotropic Hypogonadism 9 With Or Without Anosmia

Role

preferred

Name

Hypopigmentation-Immunodeficiency Disease

Role

preferred

Name

Hypopituitarism

Role

preferred

Name

Hypotonia-Cystinuria Syndrome

Role

preferred

Name

Ichthyosis, Spastic Quadriplegia, And Mental Retardation

Role

preferred

Name

Idiopathic Hypogonadotropic Hypogonadism

Role

preferred

Name

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Role

preferred

Name

Intracranial Meningioma

Role

preferred

Name

Intraventricular Meningioma

Role

preferred

Name

Isolated Growth Hormone Deficiency, Type Ib

Role

preferred

Name

Isolated Growth Hormone Deficiency, Type Ii

Role

preferred

Name

Isolated Hemihyperplasia

Role

preferred

Name

Isolated Osteopoikilosis

Role

preferred

Name

Jackson-Weiss Syndrome

Role

preferred

Name

Jacobsen Syndrome

Role

preferred

Name

Jalili Syndrome

Role

preferred

Name

Jeune Syndrome

Role

preferred

Name

Jeune Thoracic Dystrophy

Role

preferred

Name

Johanson-Blizzard Syndrome

Role

preferred

Name

Joubert Syndrome

Role

preferred

Name

Joubert Syndrome 1

Role

preferred

Name

Joubert Syndrome 14

Role

preferred

Name

Joubert Syndrome 16

Role

preferred

Name

Joubert Syndrome 2

Role

preferred

Name

Joubert Syndrome 21

Role

preferred

Name

Joubert Syndrome 24

Role

preferred

Name

Joubert Syndrome 25

Role

preferred

Name

Joubert Syndrome 3

Role

preferred

Name

Joubert Syndrome 6

Role

preferred

Name

Joubert Syndrome 7

Role

preferred

Name

Joubert Syndrome 9 (Disorder)

Role

preferred

Name

Kallmann Syndrome

Role

preferred

Name

Kallmann Syndrome 1

Role

preferred

Name

Kallmann Syndrome, Type 3, Recessive

Role

preferred

Name

Keutel Syndrome

Role

preferred

Name

Klippel-Trenaunay-Weber Syndrome

Role

preferred

Name

Klippel-Trénaunay Syndrome

Role

preferred

Name

Langer-Giedion Syndrome

Role

preferred

Name

Laryngospasm, Severe Neonatal Episodic

Role

preferred

Name

Lathosterolosis

Role

preferred

Name

Laurence-Moon Syndrome

Role

preferred

Name

Laurin-Sandrow Syndrome

Role

preferred

Name

Laurin-Sandrow Syndrome, Segmental

Role

preferred

Name

Leber Congenital Amaurosis

Role

preferred

Name

Leber Congenital Amaurosis 11

Role

preferred

Name

Leber Congenital Amaurosis 13

Role

preferred

Name

Leber Congenital Amaurosis 14

Role

preferred

Name

Leber Congenital Amaurosis 15

Role

preferred

Name

Leber Congenital Amaurosis 16

Role

preferred

Name

Leber Congenital Amaurosis 17

Role

preferred

Name

Leber Congenital Amaurosis 3

Role

preferred

Name

Leber Congenital Amaurosis 3 (Disorder)

Role

preferred

Name

Leber Congenital Amaurosis 4

Role

preferred

Name

Leber Congenital Amaurosis 5

Role

preferred

Name

Leber Congenital Amaurosis 7

Role

preferred

Name

Leber Congenital Amaurosis 8

Role

preferred

Name

Lissencephaly

Role

preferred

Name

Lissencephaly 1

Role

preferred

Name

Lissencephaly 3

Role

preferred

Name

Lissencephaly 4

Role

preferred

Name

Lissencephaly 5

Role

preferred

Name

Lissencephaly And Agenesis Of Corpus Callosum

Role

preferred

Name

Lissencephaly Type 1 Due To Doublecortin Gene Mutation

Role

preferred

Name

Lissencephaly, X-Linked, 1

Role

preferred

Name

Lissencephaly, X-Linked, 2

Role

preferred

Name

Loeys Dietz Syndrome, Type 2A (Disorder)

Role

preferred

Name

Lujan-Fryns Syndrome

Role

preferred

Name

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Role

preferred

Name

Macular Degeneration

Role

preferred

Name

Macular Dystrophy, Vitelliform, 4

Role

preferred

Name

Macular Dystrophy, Vitelliform, 5

Role

preferred

Name

Malattia Leventinese

Role

preferred

Name

Malouf Syndrome

Role

preferred

Name

Mandibuloacral Dysplasia With Type B Lipodystrophy

Role

preferred

Name

May-Hegglin Anomaly

Role

preferred

Name

Medullary Sponge Kidney

Role

preferred

Name

Megacolon

Role

preferred

Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

Role

preferred

Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Role

preferred

Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Role

preferred

Name

Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome

Role

preferred

Name

Melnick-Needles Syndrome

Role

preferred

Name

Melorheostosis With Osteopoikilosis

Role

preferred

Name

Meningeal Neoplasms

Role

preferred

Name

Meningioma

Role

preferred

Name

Meningioma, Benign, No Icd-O Subtype

Role

preferred

Name

Meningioma, Parasagittal

Role

preferred

Name

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Role

preferred

Name

Mental Retardation X-Linked, South African Type

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic 11

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic 14

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic, Christianson Type

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic, Nascimento Type

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic, Raymond Type

Role

preferred

Name

Metaphyseal Dysplasia Without Hypotrichosis

Role

preferred

Name

Microcephaly And Chorioretinopathy, Autosomal Recessive, 1

Role

preferred

Name

Microcephaly And Chorioretinopathy, Autosomal Recessive, 3

Role

preferred

Name

Microphthalmia With Limb Anomalies

Role

preferred

Name

Miller-Dieker Syndrome

Role

preferred

Name

Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive

Role

preferred

Name

Mixed Sclerosing Bone Dystrophy

Role

preferred

Name

Miyoshi Muscular Dystrophy 3

Role

preferred

Name

Monosomy 13Q14

Role

preferred

Name

Mucopolysaccharidosis, Type Ivb

Role

preferred

Name

Multiple Epiphyseal Dysplasia

Role

preferred

Name

Muscular Dystrophy

Role

preferred

Name

Muscular Dystrophy, Emery-Dreifuss

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 1C

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 1E

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9

Role

preferred

Name

Myokymia 1

Role

preferred

Name

Myopathy, Distal, 1

Role

preferred

Name

Myotonia Congenita

Role

preferred

Name

Myotonia Congenita, Autosomal Dominant

Role

preferred

Name

Myotonia Congenita, Autosomal Recessive

Role

preferred

Name

Myotonia Fluctuans

Role

preferred

Name

Myotonia Levior

Role

preferred

Name

Myotonia Permanens

Role

preferred

Name

Myotonia, Potassium-Aggravated

Role

preferred

Name

Myotonic Disorders

Role

preferred

Name

Myotonic Dystrophy 1

Role

preferred

Name

Nail-Patella Syndrome

Role

preferred

Name

Najjar Syndrome

Role

preferred

Name

Naxos Disease

Role

preferred

Name

Nephronophthisis 14

Role

preferred

Name

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive

Role

preferred

Name

Normosmic Congenital Hypogonadotropic Hypogonadism

Role

preferred

Name

Norrie Disease

Role

preferred

Name

Oculoauricular Syndrome

Role

preferred

Name

Oculocutaneous Albinism Type 6

Role

preferred

Name

Oculodentodigital Dysplasia

Role

preferred

Name

Oculodentodigital Dysplasia, Autosomal Recessive

Role

preferred

Name

Oculopharyngeal Muscular Dystrophy

Role

preferred

Name

Okihiro Syndrome

Role

preferred

Name

Opn1Mw Gene

Role

preferred

Name

Opsismodysplasia

Role

preferred

Name

Osteoarthropathy, Primary Hypertrophic

Role

preferred

Name

Osteochondrodysplasias

Role

preferred

Name

Osteochondromatosis

Role

preferred

Name

Osteopoikilosis (Disorder)

Role

preferred

Name

Osteopoikilosis, Isolated

Role

preferred

Name

Pachydermoperiostosis

Role

preferred

Name

Panhypopituitarism

Role

preferred

Name

Panhypopituitarism, X-Linked

Role

preferred

Name

Paramyotonia Congenita (Disorder)

Role

preferred

Name

Paramyotonia Congenita Of Von Eulenburg

Role

preferred

Name

Paramyotonia Congenita Without Cold Paralysis

Role

preferred

Name

Parkes Weber Syndrome

Role

preferred

Name

Peutz-Jeghers Syndrome

Role

preferred

Name

Pitt Hopkins Like Syndrome 1

Role

preferred

Name

Pituitary Dwarfism Type 3

Role

preferred

Name

Pituitary Hormone Deficiency, Combined, 1

Role

preferred

Name

Pituitary Hormone Deficiency, Combined, 2

Role

preferred

Name

Pituitary Hormone Deficiency, Combined, 4

Role

preferred

Name

Pituitary Hormone Deficiency, Combined, 6

Role

preferred

Name

Pontocerebellar Hypoplasia Type 2

Role

preferred

Name

Pontocerebellar Hypoplasia, Type 2A

Role

preferred

Name

Pontocerebellar Hypoplasia, Type 2B

Role

preferred

Name

Pontocerebellar Hypoplasia, Type 2C

Role

preferred

Name

Pontocerebellar Hypoplasia, Type 2D

Role

preferred

Name

Pontocerebellar Hypoplasia, Type 9

Role

preferred

Name

Potassium Aggravated Myotonia

Role

preferred

Name

Potocki-Shaffer Syndrome

Role

preferred

Name

Proteus Syndrome

Role

preferred

Name

Proximal 16P11.2 Microdeletion Syndrome

Role

preferred

Name

Pseudoachondroplasia

Role

preferred

Name

Pseudovaginal Perineoscrotal Hypospadias

Role

preferred

Name

Pten Hamartoma Tumor Syndrome

Role

preferred

Name

Pycnodysostosis

Role

preferred

Name

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2

Role

preferred

Name

Rapp-Hodgkin Syndrome

Role

preferred

Name

Reginato Schiapachasse Syndrome

Role

preferred

Name

Renpenning Syndrome 1

Role

preferred

Name

Retinal Cone Dystrophy 3A

Role

preferred

Name

Retinal Cone Dystrophy 3B

Role

preferred

Name

Retinal Cone Dystrophy 4

Role

preferred

Name

Retinitis Pigmentosa 1

Role

preferred

Name

Retinitis Pigmentosa 10

Role

preferred

Name

Retinitis Pigmentosa 11

Role

preferred

Name

Retinitis Pigmentosa 13

Role

preferred

Name

Retinitis Pigmentosa 14

Role

preferred

Name

Retinitis Pigmentosa 17

Role

preferred

Name

Retinitis Pigmentosa 18

Role

preferred

Name

Retinitis Pigmentosa 19

Role

preferred

Name

Retinitis Pigmentosa 20

Role

preferred

Name

Retinitis Pigmentosa 25

Role

preferred

Name

Retinitis Pigmentosa 26

Role

preferred

Name

Retinitis Pigmentosa 27

Role

preferred

Name

Retinitis Pigmentosa 28

Role

preferred

Name

Retinitis Pigmentosa 3

Role

preferred

Name

Retinitis Pigmentosa 30

Role

preferred

Name

Retinitis Pigmentosa 31

Role

preferred

Name

Retinitis Pigmentosa 35

Role

preferred

Name

Retinitis Pigmentosa 36

Role

preferred

Name

Retinitis Pigmentosa 4

Role

preferred

Name

Retinitis Pigmentosa 42

Role

preferred

Name

Retinitis Pigmentosa 43

Role

preferred

Name

Retinitis Pigmentosa 44

Role

preferred

Name

Retinitis Pigmentosa 45

Role

preferred

Name

Retinitis Pigmentosa 46

Role

preferred

Name

Retinitis Pigmentosa 47

Role

preferred

Name

Retinitis Pigmentosa 48

Role

preferred

Name

Retinitis Pigmentosa 49

Role

preferred

Name

Retinitis Pigmentosa 51

Role

preferred

Name

Retinitis Pigmentosa 54

Role

preferred

Name

Retinitis Pigmentosa 55

Role

preferred

Name

Retinitis Pigmentosa 56

Role

preferred

Name

Retinitis Pigmentosa 57

Role

preferred

Name

Retinitis Pigmentosa 58

Role

preferred

Name

Retinitis Pigmentosa 59

Role

preferred

Name

Retinitis Pigmentosa 6 (Disorder)

Role

preferred

Name

Retinitis Pigmentosa 60

Role

preferred

Name

Retinitis Pigmentosa 61

Role

preferred

Name

Retinitis Pigmentosa 62

Role

preferred

Name

Retinitis Pigmentosa 63

Role

preferred

Name

Retinitis Pigmentosa 66

Role

preferred

Name

Retinitis Pigmentosa 67

Role

preferred

Name

Retinitis Pigmentosa 68

Role

preferred

Name

Retinitis Pigmentosa 69

Role

preferred

Name

Retinitis Pigmentosa 7

Role

preferred

Name

Retinitis Pigmentosa 70

Role

preferred

Name

Retinitis Pigmentosa 71

Role

preferred

Name

Retinitis Pigmentosa 72

Role

preferred

Name

Retinitis Pigmentosa 73

Role

preferred

Name

Retinitis Pigmentosa 74

Role

preferred

Name

Retinitis Pigmentosa 9

Role

preferred

Name

Retinitis Pigmentosa With Or Without Situs Inversus

Role

preferred

Name

Retinitis Pigmentosa, Juvenile, Spata7-Related

Role

preferred

Name

Rippling Muscle Disease

Role

preferred

Name

Ritscher-Schinzel Syndrome 1

Role

preferred

Name

Ritscher-Schinzel Syndrome 2

Role

preferred

Name

Rubinstein-Taybi Syndrome 1

Role

preferred

Name

Rubinstein-Taybi Syndrome 2

Role

preferred

Name

Rudiger Syndrome 1

Role

preferred

Name

Sacral Agenesis

Role

preferred

Name

Sacral Agenesis Syndrome

Role

preferred

Name

Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation

Role

preferred

Name

Sacral Defect And Anterior Sacral Meningocele

Role

preferred

Name

Sacral Defect With Anterior Meningocele

Role

preferred

Name

Saldino-Noonan Syndrome

Role

preferred

Name

Sarcoglycanopathies

Role

preferred

Name

Scalp-Ear-Nipple Syndrome

Role

preferred

Name

Scapuloperoneal Myopathy, X-Linked Dominant

Role

preferred

Name

Schwartz-Jampel Syndrome

Role

preferred

Name

Schwartz-Jampel Syndrome, Type 1

Role

preferred

Name

Sclerosteosis

Role

preferred

Name

Sclerosteosis 1

Role

preferred

Name

Sclerosteosis 2

Role

preferred

Name

Sebastian Syndrome

Role

preferred

Name

Senior-Loken Syndrome 3

Role

preferred

Name

Senior-Loken Syndrome 4

Role

preferred

Name

Senior-Loken Syndrome 5

Role

preferred

Name

Senior-Loken Syndrome 6

Role

preferred

Name

Senior-Loken Syndrome 7

Role

preferred

Name

Senior-Loken Syndrome 8

Role

preferred

Name

Sheehan Syndrome

Role

preferred

Name

Short Rib-Polydactyly Syndrome

Role

preferred

Name

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Role

preferred

Name

Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 14 With Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly

Role

preferred

Name

Sirenomelia

Role

preferred

Name

Skin-Hair-Eye Pigmentation, Variation In, 4

Role

preferred

Name

Sotos Syndrome

Role

preferred

Name

Sotos Syndrome 1

Role

preferred

Name

Spondyloepiphyseal Dysplasia

Role

preferred

Name

Spondylometaphyseal Dysplasia, 'Corner Fracture' Type

Role

preferred

Name

Spondylometaphyseal Dysplasia, Kozlowski Type

Role

preferred

Name

Spondylometaphyseal Dysplasia, Sedaghatian Type

Role

preferred

Name

Spondyloocular Syndrome

Role

preferred

Name

Stargardt Disease 3

Role

preferred

Name

Steinert Myotonic Dystrophy

Role

preferred

Name

Stickler Syndrome, Type I, Nonsyndromic Ocular

Role

preferred

Name

Stickler Syndrome, Type V

Role

preferred

Name

Sturge-Weber Syndrome

Role

preferred

Name

Subcortical Band Heterotopia

Role

preferred

Name

Subcortical Band Heterotopia, X-Linked

Role

preferred

Name

Telangiectasia, Hereditary Hemorrhagic, Type 4

Role

preferred

Name

Telangiectasia, Hereditary Hemorrhagic, Type 5

Role

preferred

Name

Temtamy Syndrome

Role

preferred

Name

Testicular Anomalies With Or Without Congenital Heart Disease

Role

preferred

Name

Tetraamelia Syndrome, Autosomal Recessive

Role

preferred

Name

Thomsen And Becker Disease

Role

preferred

Name

Thrombocytopenia-Absent Radius Syndrome

Role

preferred

Name

Tibial Aplasia-Ectrodactyly Syndrome

Role

preferred

Name

Tibial Muscular Dystrophy, Tardive

Role

preferred

Name

Townes Brocks Branchiootorenal Like Syndrome

Role

preferred

Name

Townes Syndrome

Role

preferred

Name

Townes-Brocks Syndrome

Role

preferred

Name

Usher Syndrome

Role

preferred

Name

Usher Syndrome Type 1

Role

preferred

Name

Usher Syndrome, Type 1A

Role

preferred

Name

Usher Syndrome, Type Ib (Disorder)

Role

preferred

Name

Usher Syndrome, Type Ic

Role

preferred

Name

Usher Syndrome, Type Id

Role

preferred

Name

Usher Syndrome, Type If

Role

preferred

Name

Usher Syndrome, Type Ig

Role

preferred

Name

Usher Syndrome, Type Iia

Role

preferred

Name

Usher Syndrome, Type Iic

Role

preferred

Name

Usher Syndrome, Type Iiib

Role

preferred

Name

Usher Syndrome, Type Ij

Role

preferred

Name

Vacterl Association With Hydrocephalus

Role

preferred

Name

Van Buchem Disease, Type 2

Role

preferred

Name

Vater/Vacterl Association

Role

preferred

Name

Waardenburg Syndrome, Type 4B

Role

preferred

Name

Waardenburg Syndrome, Type 4C

Role

preferred

Name

Weaver Syndrome

Role

preferred

Name

Weaver-Like Syndrome

Role

preferred

Name

Welander Distal Myopathy

Role

preferred

Name

Wildervanck'S Syndrome

Role

preferred

Name

Woodhouse-Sakati Syndrome

Role

preferred

Name

X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type

Role

preferred

Name

X-Linked Intellectual Disability With Marfanoid Habitus

Role

preferred

Name

X-Linked Intellectual Disability, Najm Type

Role

preferred

Name

X-Linked Lissencephaly With Abnormal Genitalia

Role

preferred

Name

14Q22Q23 Microdeletion Syndrome

Role

preferred

Name

15Q13.3 Microdeletion Syndrome

Role

preferred

Name

15Q14 Microdeletion Syndrome

Role

preferred

Name

15Q24 Microdeletion

Role

preferred

Name

17P11.2 Monosomy

Role

preferred

Name

1P31P32 Microdeletion Syndrome

Role

preferred

Name

1P36 Deletion Syndrome

Role

preferred

Name

2Q23.1 Microdeletion Syndrome

Role

preferred

Name

2Q24 Microdeletion Syndrome

Role

preferred

Name

2Q32Q33 Microdeletion Syndrome

Role

preferred

Name

2Q37 Microdeletion Syndrome

Role

preferred

Name

3Mc Syndrome

Role

preferred

Name

46, XY Disorders of Sex Development

Role

preferred

Name

46, XY Sex Reversal 5

Role

preferred

Name

46,XY partial gonadal dysgenesis

Role

preferred

Name

46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs

Role

preferred

Name

46,Xy Complete Gonadal Dysgenesis

Role

preferred

Name

46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency Syndrome

Role

preferred

Name

46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related

Role

preferred

Name

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

Role

preferred

Name

46,Xy Sex Reversal 4

Role

preferred

Name

46,Xy True Hermaphroditism, Sry-Related

Role

preferred

Name

5-Alpha Reductase Deficiency

Role

preferred

Name

5Q14.3 Microdeletion Syndrome

Role

preferred

Name

ACHROMATOPSIA 6

Role

preferred

Name

AICARDI-GOUTIERES SYNDROME

Role

preferred

Name

AICARDI-GOUTIERES SYNDROME 5 (disorder)

Role

preferred

Name

AICARDI-GOUTIERES SYNDROME 7

Role

preferred

Name

ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)

Role

preferred

Name

AMR Syndrome

Role

preferred

Name

AORTIC ANEURYSM, FAMILIAL THORACIC 10

Role

preferred

Name

Abnormal Color Vision

Role

preferred

Name

Abruzzo Erickson Syndrome

Role

preferred

Name

Achromatopsia

Role

preferred

Name

Achromatopsia Incomplete, X-Linked

Role

preferred

Name

Acrocallosal Syndrome

Role

preferred

Name

Acromesomelic Dysplasia Hunter-Thompson Type

Role

preferred

Name

Acromesomelic Dysplasia, Grebe Type

Role

preferred

Name

Adams Oliver Syndrome

Role

preferred

Name

Adams-Oliver Syndrome 1

Role

preferred

Name

Adult-Onset Vitelliform Macular Dystrophy

Role

preferred

Name

Aganglionosis, Colonic

Role

preferred

Name

Aganglionosis, Rectosigmoid Colon

Role

preferred

Name

Agyria

Role

preferred

Name

Aicardi-Goutières Syndrome

Role

preferred

Name

Albinism

Role

preferred

Name

Albinism, Tyrosinase-Negative

Role

preferred

Name

Albinism, Tyrosinase-Positive

Role

preferred

Name

Albinism, Yellow-Mutant

Role

preferred

Name

Aldh18A1-Related De Barsy Syndrome

Role

preferred

Name

Allan-Herndon-Dudley Syndrome

Role

preferred

Name

Alopecia-Intellectual Disability Syndrome

Role

preferred

Name

Alpers-Huttenlocher Syndrome

Role

preferred

Name

Alpha-Dystroglycanopathies

Role

preferred

Name

Alpha-Sarcoglycanopathies

Role

preferred

Name

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Role

preferred

Name

Alstr？M Syndrome

Role

preferred

Name

Amaurosis Congenita of Leber, Type 1

Role

preferred

Name

Amino Acid Transport Disorder

Role

preferred

Name

Androgen Insensitivity Syndrome

Role

preferred

Name

Androgen Receptor Deficiency

Role

preferred

Name

Androgen-Insensitivity Syndrome

Role

preferred

Name

Angel Shaped Phalangoepiphyseal Dysplasia

Role

preferred

Name

Angel-Shaped Phalangoepiphyseal Dysplasia

Role

preferred

Name

Angelman Syndrome

Role

preferred

Name

Angioblastic Meningioma

Role

preferred

Name

Angiomatous Meningioma

Role

preferred

Name

Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 2

Role

preferred

Name

Aortic Aneurysm, Familial Thoracic 3

Role

preferred

Name

Aortic Aneurysm, Thoracoabdominal

Role

preferred

Name

Aplasia Cutis Congenita

Role

preferred

Name

Arnold-Chiari Syndrome, Type Iv

Role

preferred

Name

Asphyxiating Thoracic Dysplasia [Jeune]

Role

preferred

Name

Asphyxiating Thoracic Dystrophy 1

Role

preferred

Name

Asphyxiating Thoracic Dystrophy 2

Role

preferred

Name

Auditory Neuropathy, Nonsyndromic Recessive

Role

preferred

Name

Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome

Role

preferred

Name

Autism, Susceptibility To, 14A

Role

preferred

Name

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

Role

preferred

Name

Autosomal Dominant Macrothrombocytopenia

Role

preferred

Name

Autosomal Dominant Omodysplasia

Role

preferred

Name

Autosomal Dominant Popliteal Pterygium Syndrome

Role

preferred

Name

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Role

preferred

Name

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Role

preferred

Name

Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2S

Role

preferred

Name

Autosomal Recessive Stickler Syndrome

Role

preferred

Name

BARATELA-SCOTT SYNDROME

Role

preferred

Name

BARDET-BIEDL SYNDROME 14 (disorder)

Role

preferred

Name

BARDET-BIEDL SYNDROME 15

Role

preferred

Name

BASAL LAMINAR DRUSEN (disorder)

Role

preferred

Name

BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)

Role

preferred

Name

BNAR syndrome

Role

preferred

Name

BRACHYDACTYLY, TYPE A2

Role

preferred

Name

BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS

Role

preferred

Name

Bardet-Biedl Syndrome 1 (Disorder)

Role

preferred

Name

Bardet-Biedl Syndrome 2 (Disorder)

Role

preferred

Name

Bardet-Biedl Syndrome 21

Role

preferred

Name

Bardet-Biedl Syndrome 4 (Disorder)

Role

preferred

Name

Bartsocas-Papas Syndrome

Role

preferred

Name

Becker Generalized Myotonia

Role

preferred

Name

Benign Meningioma

Role

preferred

Name

Benign Neoplasm of Meninges

Role

preferred

Name

Best Vitelliform Macular Dystrophy

Role

preferred

Name

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Role

preferred

Name

Bethlem Myopathy

Role

preferred

Name

Blomstrand Lethal Chondrodysplasia

Role

preferred

Name

Blue Cone Monochromatism

Role

preferred

Name

Body Mass Index Quantitative Trait Locus 16

Role

preferred

Name

Bohring-Opitz Syndrome

Role

preferred

Name

Brachydactyly Type B

Role

preferred

Name

Brachydactyly Type B2

Role

preferred

Name

Brachydactyly Type E

Role

preferred

Name

Brachydactyly, Type A1

Role

preferred

Name

Brachydactyly, Type B2

Role

preferred

Name

Brachydactyly-Arterial Hypertension Syndrome

Role

preferred

Name

Brachydactyly-Elbow Wrist Dysplasia Syndrome

Role

preferred

Name

Brachydactyly-Syndactyly-Oligodactyly Syndrome

Role

preferred

Name

Branchial Clefts-Congenital Disorder

Role

preferred

Name

Branchio-Oculo-Facial Syndrome

Role

preferred

Name

Branchio-Oto-Renal Syndrome

Role

preferred

Name

Branchiootorenal Syndrome

Role

preferred

Name

Branchiootorenal Syndrome 1

Role

preferred

Name

Branchiootorenal Syndrome 2

Role

preferred

Name

Bresek Syndrome

Role

preferred

Name

Brown Oculocutaneous Albinism

Role

preferred

Name

Bulbospinal Neuronopathy, X-Linked Recessive

Role

preferred

Name

Butterfly-Shaped Pigmentary Macular Dystrophy

Role

preferred

Name

C Syndrome

Role

preferred

Name

COACH syndrome

Role

preferred

Name

CONE DYSTROPHY 5, X-LINKED

Role

preferred

Name

CONE-ROD DYSTROPHY 12 (disorder)

Role

preferred

Name

CONE-ROD DYSTROPHY 3 (disorder)

Role

preferred

Name

CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)

Role

preferred

Name

CRANIOOSTEOARTHROPATHY

Role

preferred

Name

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Role

preferred

Name

Cardio-Facio-Cutaneous Syndrome

Role

preferred

Name

Carnevale Syndrome

Role

preferred

Name

Cataract And Cardiomyopathy

Role

preferred

Name

Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome

Role

preferred

Name

Catel Manzke Syndrome

Role

preferred

Name

Caudal Regression Sequence

Role

preferred

Name

Cerebro-Facio-Thoracic Dysplasia

Role

preferred

Name

Cerebrocostomandibular-Like Syndrome

Role

preferred

Name

Cerebrofaciothoracic Dysplasia

Role

preferred

Name

Cervical Auricle (Disorder)

Role

preferred

Name

Chediak-Higashi Syndrome

Role

preferred

Name

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Role

preferred

Name

Chordoid Meningioma

Role

preferred

Name

Christ-Siemens-Touraine Syndrome

Role

preferred

Name

Chromosome 11P11.2 Deletion Syndrome

Role

preferred

Name

Chromosome 15Q13.3 Microdeletion Syndrome

Role

preferred

Name

Chromosome 16P11.2 Deletion Syndrome, 220-Kb

Role

preferred

Name

Chromosome 16P11.2 Deletion Syndrome, 593-Kb

Role

preferred

Name

Chromosome 18Q Syndrome

Role

preferred

Name

Chromosome 2Q32-Q33 Deletion Syndrome

Role

preferred

Name

Chromosome 3, Monosomy 3P

Role

preferred

Name

Chromosome 6Pter-P24 Deletion Syndrome

Role

preferred

Name

Classical Lissencephalies And Subcortical Band Heterotopias

Role

preferred

Name

Clear Cell Meningioma

Role

preferred

Name

Cleft Palate-Lateral Synechia Syndrome

Role

preferred

Name

Color Blindness

Role

preferred

Name

Color Blindness, Acquired

Role

preferred

Name

Color Blindness, Blue

Role

preferred

Name

Color Blindness, Green

Role

preferred

Name

Color Blindness, Inherited

Role

preferred

Name

Color Blindness, Red

Role

preferred

Name

Color Blindness, Red-Green

Role

preferred

Name

Color Vision Defect

Role

preferred

Name

Cone Monochromatism

Role

preferred

Name

Cone Rod Dystrophy

Role

preferred

Name

Cone-Rod Dystrophies

Role

preferred

Name

Cone-Rod Dystrophy 2

Role

preferred

Name

Cone-Rod Dystrophy, Aipl1-Related (Disorder)

Role

preferred

Name

Congenital Absence of Part of Brain

Role

preferred

Name

Congenital Aneurysm of Ascending Aorta

Role

preferred

Name

Congenital Anomaly of Cartilage

Role

preferred

Name

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Role

preferred

Name

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Role

preferred

Name

Congenital Defect of Skull And Scalp

Role

preferred

Name

Congenital Hereditary Muscular Dystrophy

Role

preferred

Name

Congenital Hypoplasia of Part of Brain

Role

preferred

Name

Congenital Intestinal Aganglionosis

Role

preferred

Name

Congenital Malformation Syndromes Involving Early Overgrowth

Role

preferred

Name

Congenital Malformation Syndromes Involving Limbs

Role

preferred

Name

Congenital Muscular Dystrophy (Disorder)

Role

preferred

Name

Congenital Pontocerebellar Hypoplasia Type 7

Role

preferred

Name

Congenital Pontocerebellar Hypoplasia Type 8

Role

preferred

Name

Continuous Muscle Fiber Activity, Hereditary

Role

preferred

Name

Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Role

preferred

Name

Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia

Role

preferred

Name

Corpus Callosum, Partial Agenesis Of, X-Linked

Role

preferred

Name

Cortical Dysplasia With Focal Epilepsy Syndrome

Role

preferred

Name

Costello Syndrome

Role

preferred

Name

Cousin Syndrome

Role

preferred

Name

Cowden Syndrome

Role

preferred

Name

Cowden Syndrome 1

Role

preferred

Name

Craniofacial Ulnar Renal Syndrome

Role

preferred

Name

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Role

preferred

Name

Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome

Role

preferred

Name

Cystic Medial Necrosis of Aorta

Role

preferred

Name

DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 27

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 68

Role

preferred

Name

DEAFNESS, AUTOSOMAL DOMINANT 69

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE 17 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE 32

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE 97

Role

preferred

Name

DEAFNESS, AUTOSOMAL RECESSIVE, 24

Role

preferred

Name

DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8

Role

preferred

Name

DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

Role

preferred

Name

DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)

Role

preferred

Name

DEAFNESS, X-LINKED 1 (disorder)

Role

preferred

Name

DOSAGE-SENSITIVE SEX REVERSAL

Role

preferred

Name

DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS

Role

preferred

Name

Deafness, Autosomal Dominant 16

Role

preferred

Name

Deafness, Autosomal Dominant 4

Role

preferred

Name

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Role

preferred

Name

Deafness, Autosomal Recessive 10

Role

preferred

Name

Deafness, Autosomal Recessive 18

Role

preferred

Name

Deafness, Autosomal Recessive 26

Role

preferred

Name

Deafness, Autosomal Recessive 42 (Disorder)

Role

preferred

Name

Deafness, Autosomal Recessive 77 (Disorder)

Role

preferred

Name

Deafness-Infertility Syndrome

Role

preferred

Name

Decreased Beta-Galactosidase Activity

Role

preferred

Name

Deletion 11P13

Role

preferred

Name

Deuteranomaly

Role

preferred

Name

Deuteranopia

Role

preferred

Name

Developmental Malformations-Deafness-Dystonia Syndrome

Role

preferred

Name

Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Role

preferred

Name

Distal 22Q11.2 Microdeletion Syndrome

Role

preferred

Name

Distal Myopathy 1

Role

preferred

Name

Distal Myopathy, Welander Type

Role

preferred

Name

Duane Retraction Syndrome

Role

preferred

Name

Duane Retraction Syndrome, Type 2

Role

preferred

Name

Duane Retraction Syndrome, Type 3

Role

preferred

Name

Dyschondroplasia

Role

preferred

Name

Dyschondroplasias

Role

preferred

Name

Dysgnathia Complex

Role

preferred

Name

Dystrophia Myotonica 2

Role

preferred

Name

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Role

preferred

Name

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Role

preferred

Name

Eem Syndrome

Role

preferred

Name

Ellis-Van Creveld Syndrome

Role

preferred

Name

Enchondromatosis

Role

preferred

Name

Enlarged Vestibular Aqueduct

Role

preferred

Name

Eosinophilic Myositis (Disorder)

Role

preferred

Name

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders

Role

preferred

Name

Episodic Ataxia, Type 1

Role

preferred

Name

Epstein Syndrome (Disorder)

Role

preferred

Name

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

Role

preferred

Name

Familial Aplasia of The Vermis

Role

preferred

Name

Familial CHARGE Syndrome

Role

preferred

Name

Fechtner Syndrome (Disorder)

Role

preferred

Name

Fetal Akinesia Deformation Sequence

Role

preferred

Name

Fibrous Meningioma

Role

preferred

Name

Fibular Aplasia-Complex Brachydactyly Syndrome

Role

preferred

Name

Fried Syndrome

Role

preferred

Name

Fukuyama Type Congenital Muscular Dystrophy

Role

preferred

Name

GALLOWAY-MOWAT SYNDROME 1

Role

preferred

Name

GALLOWAY-MOWAT SYNDROME 2, X-LINKED

Role

preferred

Name

GALLOWAY-MOWAT SYNDROME 3

Role

preferred

Name

GALLOWAY-MOWAT SYNDROME 4

Role

preferred

Name

GALLOWAY-MOWAT SYNDROME 5

Role

preferred

Name

GALNS Deficiency

Role

preferred

Name

GRISCELLI SYNDROME, TYPE 1

Role

preferred

Name

GRISCELLI SYNDROME, TYPE 2

Role

preferred

Name

GRISCELLI SYNDROME, TYPE 3

Role

preferred

Name

Galloway Mowat Syndrome

Role

preferred

Name

Gangliosidosis, Generalized GM1, Type 2

Role

preferred

Name

Gangliosidosis, Generalized GM1, Type 3

Role

preferred

Name

Gapo Syndrome

Role

preferred

Name

Giant Platelet Syndrome With Thrombocytopenia

Role

preferred

Name

Glanzmann Thrombasthenia, Autosomal Dominant

Role

preferred

Name

Globe Retraction And Deviation On Adduction

Role

preferred

Name

Goldberg-Shprintzen Megacolon Syndrome

Role

preferred

Name

Gonadal Dysgenesis, 46,XY

Role

preferred

Name

Gorlin Syndrome

Role

preferred

Name

Grange Syndrome

Role

preferred

Name

Growth Hormone Deficiency With Pituitary Anomalies

Role

preferred

Name

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

Role

preferred

Name

HEMIHYPERPLASIA, ISOLATED

Role

preferred

Name

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

Role

preferred

Name

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4

Role

preferred

Name

HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC

Role

preferred

Name

Hamartoma Syndrome, Multiple

Role

preferred

Name

Hartnup Disease

Role

preferred

Name

Hartsfield Syndrome

Role

preferred

Name

Hay-Wells Syndrome

Role

preferred

Name

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Role

preferred

Name

Hemangioblastic Meningioma

Role

preferred

Name

Hemangiopericytic Meningioma

Role

preferred

Name

Hemimelia

Role

preferred

Name

Hereditary Clubbing

Role

preferred

Name

Hereditary Hemorrhagic Telangiectasia

Role

preferred

Name

Hereditary Multiple Exostoses

Role

preferred

Name

Hereditary Retinal Dystrophy

Role

preferred

Name

Hidrotic Ectodermal Dysplasia

Role

preferred

Name

Hirschsprung Disease

Role

preferred

Name

Hydrolethalus Syndrome

Role

preferred

Name

Hyperostosis of Skull

Role

preferred

Name

Hypertrichotic Osteochondrodysplasia, Cantu Type

Role

preferred

Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Role

preferred

Name

Hypertrophic Pulmonary Osteoarthropathy

Role

preferred

Name

Hypodontia-Dysplasia Of Nails Syndrome

Role

preferred

Name

Hypogonadism, Isolated Hypogonadotropic

Role

preferred

Name

Hypoparathyroidism-Deafness-Renal Disease Syndrome

Role

preferred

Name

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V

Role

preferred

Name

Ichthyosis Follicularis Atrichia Photophobia Syndrome

Role

preferred

Name

Idiopathic Growth Hormone Deficiency

Role

preferred

Name

Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome

Role

preferred

Name

Intraorbital Meningioma

Role

preferred

Name

Isaacs Syndrome

Role

preferred

Name

Isolated Deficiency of Pituitary Hormone

Role

preferred

Name

Isolated Gonadotropin Deficiency

Role

preferred

Name

Isolated Lutropin Deficiency (Disorder)

Role

preferred

Name

JOUBERT SYNDROME 12

Role

preferred

Name

JOUBERT SYNDROME 12/15, DIGENIC

Role

preferred

Name

JOUBERT SYNDROME 19

Role

preferred

Name

JOUBERT SYNDROME 28

Role

preferred

Name

JOUBERT SYNDROME 30

Role

preferred

Name

JOUBERT SYNDROME 8 (disorder)

Role

preferred

Name

Jacobsen Distal 11Q Deletion Syndrome

Role

preferred

Name

Jejunal Atresia With Microcephaly And Ocular Anomalies

Role

preferred

Name

Joubert Syndrome 15

Role

preferred

Name

Joubert Syndrome 9

Role

preferred

Name

Joubert Syndrome 9/15, Digenic

Role

preferred

Name

Joubert Syndrome With Ocular Defect

Role

preferred

Name

Joubert Syndrome With Oculorenal Defect

Role

preferred

Name

Joubert Syndrome With Renal Defect

Role

preferred

Name

Juvenile Macular Degeneration

Role

preferred

Name

Juvenile-Onset Vitelliform Macular Dystrophy

Role

preferred

Name

Kallmann Syndrome 2 (Disorder)

Role

preferred

Name

Klein'S Syndrome

Role

preferred

Name

LEBER CONGENITAL AMAUROSIS 10 (disorder)

Role

preferred

Name

LEBER CONGENITAL AMAUROSIS 12 (disorder)

Role

preferred

Name

LEBER CONGENITAL AMAUROSIS 6 (disorder)

Role

preferred

Name

LEBER CONGENITAL AMAUROSIS 9 (disorder)

Role

preferred

Name

LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)

Role

preferred

Name

Leber Congenital Amaurosis 18

Role

preferred

Name

Leptomeningeal Neoplasms

Role

preferred

Name

Lhermitte-Duclos Disease

Role

preferred

Name

Limb-Girdle Muscular Dystrophy Type 2A

Role

preferred

Name

Limb-Girdle Muscular Dystrophy Type 2F

Role

preferred

Name

Limb-Girdle Muscular Dystrophy Type 2H

Role

preferred

Name

Limb-Girdle Muscular Dystrophy, Type 1G (Disorder)

Role

preferred

Name

Limb-Girdle Muscular Dystrophy, Type 2E

Role

preferred

Name

Linear Nevus Sebaceus Syndrome

Role

preferred

Name

Loeys-Dietz Aortic Aneurysm Syndrome

Role

preferred

Name

Loeys-Dietz Syndrome

Role

preferred

Name

Loeys-Dietz Syndrome, Type 1A

Role

preferred

Name

Lujan Fryns Syndrome

Role

preferred

Name

Lumbosacral Agenesis

Role

preferred

Name

Léri-Weill Dyschondrosteosis

Role

preferred

Name

MACULAR DYSTROPHY, ATYPICAL VITELLIFORM

Role

preferred

Name

MACULAR DYSTROPHY, VITELLIFORM, 1

Role

preferred

Name

MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE

Role

preferred

Name

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

Role

preferred

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE

Role

preferred

Name

MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT

Role

preferred

Name

MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS

Role

preferred

Name

MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

Role

preferred

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q

Role

preferred

Name

MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES

Role

preferred

Name

MYOPATHY, MYOFIBRILLAR, 3

Role

preferred

Name

MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

Role

preferred

Name

Macular Dystrophy, Vitelliform, 3

Role

preferred

Name

Maffucci Syndrome

Role

preferred

Name

Mainzer-Saldino Disease

Role

preferred

Name

Majewski Syndrome

Role

preferred

Name

Malan Overgrowth Syndrome

Role

preferred

Name

Male Pseudohermaphroditism

Role

preferred

Name

Malignant Meningioma

Role

preferred

Name

Mandibuloacral Dysplasia With Type A Lipodystrophy

Role

preferred

Name

Marfan Syndrome

Role

preferred

Name

Marfan Syndrome, Type I

Role

preferred

Name

Martin-Probst Deafness-Mental Retardation Syndrome

Role

preferred

Name

Martsolf Syndrome

Role

preferred

Name

Mckusick-Kaufman Syndrome

Role

preferred

Name

Medullary Cystic Disease

Role

preferred

Name

Medullary Sponge Kidney Disease

Role

preferred

Name

Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Role

preferred

Name

Megalencephaly, Polymicrogyria, Postaxial Polydactyly, Hydrocephalus Syndrome

Role

preferred

Name

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Role

preferred

Name

Meningiomas, Multiple

Role

preferred

Name

Meningothelial Meningioma

Role

preferred

Name

Mental Retardation, Autosomal Dominant 22

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic, Cabezas Type

Role

preferred

Name

Mental Retardation, X-Linked, Syndromic, Turner Type

Role

preferred

Name

Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

Role

preferred

Name

Metatropic Dysplasia

Role

preferred

Name

Microcystic Meningioma

Role

preferred

Name

Microgyria

Role

preferred

Name

Micropenis

Role

preferred

Name

Miller Dieker Syndrome

Role

preferred

Name

Mitochondrial DNA Depletion Syndrome 12

Role

preferred

Name

Monochromatopsia

Role

preferred

Name

Monosomy 22Q13

Role

preferred

Name

Monosomy 9Q22.3

Role

preferred

Name

Mucopolysaccharidosis IV

Role

preferred

Name

Mucopolysaccharidosis Type Ivb

Role

preferred

Name

Mucopolysaccharidosis, MPS-IV-A

Role

preferred

Name

Multiple Osteochondromas

Role

preferred

Name

Multiple Small Medullary Renal Cysts

Role

preferred

Name

Muscle Eye Brain Disease

Role

preferred

Name

Muscle-Eye-Brain Disease

Role

preferred

Name

Muscular Dystrophies, Limb-Girdle

Role

preferred

Name

Muscular Dystrophy, Becker Type

Role

preferred

Name

Muscular Dystrophy, Facioscapulohumeral

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 1F

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 2G

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 2H

Role

preferred

Name

Muscular Dystrophy, Limb-Girdle, Type 2M

Role

preferred

Name

Muscular Dystrophy, Oculopharyngeal

Role

preferred

Name

Muscular Dystrophy, Scapulohumeral

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A, 1

Role

preferred

Name

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4

Role

preferred

Name

Myotonia Fluctuans (Disorder)

Role

preferred

Name

Myotonic Dystrophy

Role

preferred

Name

Naegeli-Franceschetti-Jadassohn Syndrome

Role

preferred

Name

Necrosis of Pituitary Gland (Postpartum)

Role

preferred

Name

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

Role

preferred

Name

Nephronophthisis

Role

preferred

Name

Nijmegen Breakage Syndrome

Role

preferred

Name

OSLER-RENDU-WEBER SYNDROME 2

Role

preferred

Name

Obesity, Susceptibility To

Role

preferred

Name

Oculo-Dento-Digital Syndrome

Role

preferred

Name

Oculocutaneous Albinism Type 1

Role

preferred

Name

Oculocutaneous Albinism Type 1A

Role

preferred

Name

Oculocutaneous Albinism Type 1B

Role

preferred

Name

Oculocutaneous Albinism Type 2

Role

preferred

Name

Oculocutaneous Albinism Type 3

Role

preferred

Name

Oculocutaneous Albinism Type 4

Role

preferred

Name

Oculodigitoesophagoduodenal Syndrome

Role

preferred

Name

Oculofaciocardiodental Syndrome

Role

preferred

Name

Oculopalatoskeletal Syndrome

Role

preferred

Name

Oculotrichoanal Syndrome

Role

preferred

Name

Olfactory Groove Meningioma

Role

preferred

Name

Orstavik Lindemann Solberg Syndrome

Role

preferred

Name

Osteodystrophy

Role

preferred

Name

Other Congenital Malformation Syndromes With Other Skeletal Changes

Role

preferred

Name

Other Deletions of Part of A Chromosome

Role

preferred

Name

Other Primary Thrombocytopenia

Role

preferred

Name

Other Reduction Deformities of Brain

Role

preferred

Name

Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm

Role

preferred

Name

Other Specified Congenital Malformations of Brain

Role

preferred

Name

Other Specified Degenerative Diseases of Nervous System

Role

preferred

Name

Otocephaly

Role

preferred

Name

Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Role

preferred

Name

PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS

Role

preferred

Name

PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS

Role

preferred

Name

PEHO syndrome

Role

preferred

Name

PITUITARY DWARFISM I

Role

preferred

Name

PSEUDO-TORCH SYNDROME 1

Role

preferred

Name

Pachygyria

Role

preferred

Name

Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome

Role

preferred

Name

Panhypopituitarism - X-Linked

Role

preferred

Name

Papillary Meningioma

Role

preferred

Name

Parasagittal Meningioma

Role

preferred

Name

Paris-Trousseau Thrombocytopenia

Role

preferred

Name

Partial Androgen Insensitivity Syndrome

Role

preferred

Name

Peutz Jehgers Polyp

Role

preferred

Name

Peutz-Jeghers Polyps of Small Bowel

Role

preferred

Name

Phocomelia

Role

preferred

Name

Phocomelia, Schinzel Type

Role

preferred

Name

Piebaldism

Role

preferred

Name

Pierre Robin Syndrome With Fetal Chondrodysplasia

Role

preferred

Name

Pigmentary Retinal Dystrophy

Role

preferred

Name

Pitt-Hopkins-Like Syndrome 1

Role

preferred

Name

Pituitary Cachexia

Role

preferred

Name

Pituitary Dwarfism

Role

preferred

Name

Pituitary Hormone Deficiency, Combined, 3

Role

preferred

Name

Pituitary Short Stature

Role

preferred

Name

Platyspondylic Dysplasia, Torrance Type

Role

preferred

Name

Pontocerebellar Hypoplasia Type 2A

Role

preferred

Name

Pontocerebellar Hypoplasia Type 2B

Role

preferred

Name

Pontocerebellar Hypoplasia Type 2C

Role

preferred

Name

Posterior Fossa Meningioma

Role

preferred

Name

Primary Hypogonadism

Role

preferred

Name

Progressive Cone Dystrophy

Role

preferred

Name

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome

Role

preferred

Name

Protanomaly

Role

preferred

Name

Protanopia

Role

preferred

Name

Proteus-Like Syndrome

Role

preferred

Name

Proteus-Like Syndrome (Disorder)

Role

preferred

Name

Proximal Myotonic Myopathy

Role

preferred

Name

Psammomatous Meningioma

Role

preferred

Name

Pseudo-TORCH syndrome

Role

preferred

Name

Pseudomyotonia (Finding)

Role

preferred

Name

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Role

preferred

Name

RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1

Role

preferred

Name

RETINAL CONE DYSTROPHY 1

Role

preferred

Name

RETINITIS PIGMENTOSA 12 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 2 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 29 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 33 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 38 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 39 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 40 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 41 (disorder)

Role

preferred

Name

RETINITIS PIGMENTOSA 53

Role

preferred

Name

RETINITIS PIGMENTOSA 65

Role

preferred

Name

RETINITIS PIGMENTOSA 75

Role

preferred

Name

RETINITIS PIGMENTOSA 77

Role

preferred

Name

RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS

Role

preferred

Name

RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED

Role

preferred

Name

RIPPLING MUSCLE DISEASE 1

Role

preferred

Name

RIPPLING MUSCLE DISEASE 2 (disorder)

Role

preferred

Name

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia

Role

preferred

Name

Reifenstein Syndrome

Role

preferred

Name

Renal Dysplasia And Retinal Aplasia (Disorder)

Role

preferred

Name

Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type

Role

preferred

Name

Retinal Dystrophy With Early Macular Involvement

Role

preferred

Name

Retinal Dystrophy, Early Onset Severe

Role

preferred

Name

Retinal Dystrophy, Early-Onset Severe, Lrat-Related

Role

preferred

Name

Retinitis Pigmentosa

Role

preferred

Name

Retinitis Pigmentosa 37 (Disorder)

Role

preferred

Name

Retinitis Pigmentosa 64

Role

preferred

Name

Retinitis Pigmentosa 7, Digenic

Role

preferred

Name

Retinitis Pigmentosa, Concentric (Disorder)

Role

preferred

Name

Retinitis Pigmentosa, Juvenile, Aipl1-Related

Role

preferred

Name

Retinitis Punctata Albescens (Disorder)

Role

preferred

Name

Rod-Cone Dystrophy

Role

preferred

Name

Rp23 Gene

Role

preferred

Name

Rubinstein-Taybi Syndrome

Role

preferred

Name

STARGARDT DISEASE 1 (disorder)

Role

preferred

Name

STICKLER SYNDROME, TYPE II (disorder)

Role

preferred

Name

Sc Phocomelia Syndrome

Role

preferred

Name

Scapuloperoneal Myopathy

Role

preferred

Name

Scapuloperoneal Myopathy, Myh7-Related

Role

preferred

Name

Secretory Meningioma

Role

preferred

Name

Senior-Loken Syndrome

Role

preferred

Name

Senior-Loken Syndrome 1

Role

preferred

Name

Sensorineural Hearing Loss, Bilateral

Role

preferred

Name

Septo-Optic Dysplasia

Role

preferred

Name

Septo-Optic Dysplasia Spectrum

Role

preferred

Name

Septooptic Dysplasia

Role

preferred

Name

Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type (Disorder)

Role

preferred

Name

Severe X-Linked Mitochondrial Encephalomyopathy

Role

preferred

Name

Short Rib Dysplasia

Role

preferred

Name

Short-Rib Thoracic Dysplasia 15 With Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly

Role

preferred

Name

Short-Rib Thoracic Dysplasia 7/20 With Polydactyly, Digenic

Role

preferred

Name

Siderius X-Linked Mental Retardation Syndrome

Role

preferred

Name

Simpson-Golabi-Behmel Syndrome

Role

preferred

Name

Sirenomelia Syndrome

Role

preferred

Name

Skin/Hair/Eye Pigmentation, Variation In, 4

Role

preferred

Name

Smith-Magenis Syndrome

Role

preferred

Name

Somatotropin Deficiency

Role

preferred

Name

Sotos' Syndrome

Role

preferred

Name

Sphenoid Wing Meningioma

Role

preferred

Name

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Role

preferred

Name

Spinal Meningioma

Role

preferred

Name

Split-Hand-Foot Malformation With Long Bone Deficiency 1

Role

preferred

Name

Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Role

preferred

Name

Spondylo-Ocular Syndrome

Role

preferred

Name

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Role

preferred

Name

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Role

preferred

Name

Spondylometaphyseal Dysplasia, Schmidt Type

Role

preferred

Name

Stargardt Disease

Role

preferred

Name

Stargardt Disease 4

Role

preferred

Name

Stargardt'S Disease

Role

preferred

Name

Stickler Syndrome Type 1

Role

preferred

Name

Stickler Syndrome Type 3

Role

preferred

Name

Stickler Syndrome, Type 1

Role

preferred

Name

Stickler Syndrome, Type 3

Role

preferred

Name

Stickler Syndrome, Type Ii

Role

preferred

Name

Stüve-Wiedemann Syndrome

Role

preferred

Name

Swyer Syndrome

Role

preferred

Name

Syndactyly Cenani Lenz Type

Role

preferred

Name

TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS

Role

preferred

Name

TOWNES-BROCKS SYNDROME 1

Role

preferred

Name

TOWNES-BROCKS SYNDROME 2

Role

preferred

Name

Telangiectasia, Hereditary Hemorrhagic, Type 1

Role

preferred

Name

Testicular Feminization

Role

preferred

Name

Testicular Hypogonadism

Role

preferred

Name

Tetraamelia-Multiple Malformations Syndrome

Role

preferred

Name

Tibial Aplasia And Ectrodactyly Syndrome

Role

preferred

Name

Tibial Muscular Dystrophy

Role

preferred

Name

Townes-Brocks-Branchiootorenal-Like Syndrome

Role

preferred

Name

Transitional Meningioma

Role

preferred

Name

Type 1 Duane Retraction Syndrome

Role

preferred

Name

Type I Familial Incomplete Male Pseudohermaphroditism

Role

preferred

Name

USH1D/F, CDH23/PCDH15, DIGENIC

Role

preferred

Name

USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY

Role

preferred

Name

USHER SYNDROME, TYPE IA, FORMERLY

Role

preferred

Name

USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC

Role

preferred

Name

USHER SYNDROME, TYPE IIB, FORMERLY

Role

preferred

Name

USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC

Role

preferred

Name

Usher Syndrome Type 2

Role

preferred

Name

Usher Syndrome Type 3

Role

preferred

Name

Usher Syndrome, Type 2C

Role

preferred

Name

Usher Syndrome, Type I

Role

preferred

Name

Usher Syndrome, Type II

Role

preferred

Name

Usher Syndrome, Type III

Role

preferred

Name

VATER Association

Role

preferred

Name

Vacterl/Vater Association

Role

preferred

Name

Van Buchem Disease

Role

preferred

Name

Van Buchem Disease Type 2

Role

preferred

Name

Vater Association With Hydrocephalus

Role

preferred

Name

Vater Association With Macrocephaly And Ventriculomegaly

Role

preferred

Name

Vici Syndrome

Role

preferred

Name

Vitelliform Macular Dystrophy

Role

preferred

Name

Vitelliform-Like Macular Lesions

Role

preferred

Name

Von Hippel-Lindau Disease

Role

preferred

Name

Von Hippel-Lindau Syndrome

Role

preferred

Name

WAARDENBURG SYNDROME, TYPE IID

Role

preferred

Name

WAARDENBURG SYNDROME, TYPE IIE

Role

preferred

Name

WAGR Syndrome

Role

preferred

Name

WITTEVEEN-KOLK SYNDROME

Role

preferred

Name

Waardenburg Anophthalmia Syndrome

Role

preferred

Name

Waardenburg Syndrome

Role

preferred

Name

Waardenburg Syndrome Type 1

Role

preferred

Name

Waardenburg Syndrome Type 2

Role

preferred

Name

Waardenburg Syndrome, Type 1

Role

preferred

Name

Waardenburg-Shah Syndrome

Role

preferred

Name

Walker-Warburg Congenital Muscular Dystrophy

Role

preferred

Name

Williams-Beuren Syndrome

Role

preferred

Name

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome

Role

preferred

Name

Woodhouse Sakati Syndrome

Role

preferred

Name

X-Linked Agammaglobulinemia With Growth Hormone Deficiency

Role

preferred

Name

X-Linked Emery-Dreifuss Muscular Dystrophy

Role

preferred

Name

X-Linked Intellectual Disability, Cantagrel Type

Role

preferred

Name

X-Linked Lissencephaly

Role

preferred

Name

X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome

Role

preferred

Name

X-Linked Recessive Ocular Albinism

Role

preferred

Name

Xanthomatous Meningioma

Role

preferred

Name

？Land Islands Eye Disease

Role

preferred

Name

11p11.2 Deletion

Role

alias

Name

17q23.1-q23.2 Microdeletion Syndrome

Role

alias

Name

18Q- Syndrome

Role

alias

Name

2p21 Deletion Syndrome

Role

alias

Name

3Mc Syndrome 1

Role

alias

Name

3Mc Syndrome 2

Role

alias

Name

3P- Syndrome

Role

alias

Name

46 Xy Gonadal Dysgenesis

Role

alias

Name

46,XY DSD Due To 5-alpha-reductase 2 Deficiency

Role

alias

Name

46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED

Role

alias

Name

46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED

Role

alias

Name

46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE

Role

alias

Name

46,XY SEX REVERSAL, CBX2-RELATED

Role

alias

Name

46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED

Role

alias

Name

46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED

Role

alias

Name

46,XY SEX REVERSAL, SRY-RELATED

Role

alias

Name

46,XY SEX REVERSAL, ZFPM2-RELATED

Role

alias

Name

46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related

Role

alias

Name

46,Xy Sex Reversal 2

Role

alias

Name

46,Xy Sex Reversal 7

Role

alias

Name

46,Xy Sex Reversal 8

Role

alias

Name

9P Partial Monosomy

Role

alias

Name

AAT4

Role

alias

Name

AAT6

Role

alias

Name

AAT7

Role

alias

Name

AAT8

Role

alias

Name

AAT9

Role

alias

Name

ABERS

Role

alias

Name

ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION

Role

alias

Name

ACFD

Role

alias

Name

ACHM1, FORMERLY

Role

alias

Name

ACHM2

Role

alias

Name

ACHM3

Role

alias

Name

ACHM5

Role

alias

Name

ACHM6

Role

alias

Name

ACHM7

Role

alias

Name

ACHROMATOPSIA WITH MYOPIA

Role

alias

Name

ACMICD

Role

alias

Name

ACROMESOMELIC DWARFISM

Role

alias

Name

ACRORENOOCULAR SYNDROME

Role

alias

Name

ACZ-responsive Congenital Myotonia

Role

alias

Name

ACZ-responsive Myotonia

Role

alias

Name

AEC Syndrome

Role

alias

Name

AEM

Role

alias

Name

AEMK

Role

alias

Name

AFDCIN

Role

alias

Name

AGOTC

Role

alias

Name

AGS

Role

alias

Name

AGS1

Role

alias

Name

AGS2

Role

alias

Name

AGS3

Role

alias

Name

AGS4

Role

alias

Name

AGS6

Role

alias

Name

AMDD

Role

alias

Name

AMDH

Role

alias

Name

AMDM

Role

alias

Name

ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER

Role

alias

Name

ANGELMAN-LIKE SYNDROME, X-LINKED

Role

alias

Name

ANOPHTHALMIA-SYNDACTYLY

Role

alias

Name

ANOSMIC HYPOGONADISM

Role

alias

Name

ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES

Role

alias

Name

AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION

Role

alias

Name

AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS

Role

alias

Name

AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM

Role

alias

Name

AOS

Role

alias

Name

AOS2

Role

alias

Name

AOS3

Role

alias

Name

AOS4

Role

alias

Name

AOS5

Role

alias

Name

AOS6

Role

alias

Name

AR-HED

Role

alias

Name

ASPED

Role

alias

Name

ASPHYXIATING THORACIC DYSTROPHY 4

Role

alias

Name

ASPHYXIATING THORACIC DYSTROPHY 5

Role

alias

Name

ATAXIA, EPISODIC, WITH MYOKYMIA

Role

alias

Name

ATD4

Role

alias

Name

ATD5

Role

alias

Name

ATELIOTIC DWARFISM WITH HYPOGONADISM

Role

alias

Name

ATRIODIGITAL DYSPLASIA

Role

alias

Name

AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1

Role

alias

Name

AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT

Role

alias

Name

AUNA1

Role

alias

Name

AUNB1

Role

alias

Name

Abnormality of Color Vision

Role

alias

Name

Abnormality of Colour Vision

Role

alias

Name

Absence of Part of Skin At Birth

Role

alias

Name

Absence of The Sacrum

Role

alias

Name

Absent Patellae-scrotal Hypoplasia-renal Anomalies-facial Dysmorphism-intellectual Disability Syndrome

Role

alias

Name

Absent Radii And Thrombocytopenia

Role

alias

Name

Absent Sacrum

Role

alias

Name

Acc

Role

alias

Name

Acetazolamide-responsive Congenital Myotonia

Role

alias

Name

Acquired Color Blindness

Role

alias

Name

Acrodermatounguallacrimaltooth Syndrome

Role

alias

Name

Acrofacial Dysostosis Cincinnati Type

Role

alias

Name

Acromesomelic Dysplasia

Role

alias

Name

Acropachy, Hereditary

Role

alias

Name

Aganglionic Megacolon

Role

alias

Name

Agenesis of Cerebellar Vermis

Role

alias

Name

Ags5

Role

alias

Name

Aicardi Goutieres Syndrome

Role

alias

Name

Aicardi-Goutieres Syndrome 5

Role

alias

Name

Aicardi-Goutieres Syndrome, Autosomal Dominant

Role

alias

Name

Albinism Ii

Role

alias

Name

Albinism, Brown Oculocutaneous

Role

alias

Name

Albinism, Ocular, With Sensorineural Deafness

Role

alias

Name

Albinism, Oculocutaneous, Type Ia

Role

alias

Name

Albinism, Oculocutaneous, Type Ii

Role

alias

Name

Amaurosis Congenita Of Leber

Role

alias

Name

Amaurosis Congenita of Leber I

Role

alias

Name

Amaurosis Congenita of Leber Ii

Role

alias

Name

Amaurosis Congenita of Leber, Type 2

Role

alias

Name

Amaurosis Congenita of Leber, Type 5

Role

alias

Name

Amaurosis Congenita of Leber, Type 9

Role

alias

Name

Androgen Insensitivity, Complete

Role

alias

Name

Androgen Resistance Syndrome

Role

alias

Name

Aneurysm, Thoracic Aortic

Role

alias

Name

Anhidrotic Ectodermal Dysplasia

Role

alias

Name

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Role

alias

Name

Annuloaortic Ectasia

Role

alias

Name

Anophthalmia Waardenburg Syndrome

Role

alias

Name

Anophthalmia-syndactyly Syndrome

Role

alias

Name

Anophthalmos With Limb Anomalies

Role

alias

Name

Aortic Aneurysm, Familial Thoracic 1

Role

alias

Name

Aplasia Cutis Congenita, Nonsyndromic

Role

alias

Name

Armfield Syndrome

Role

alias

Name

Arthroophthalmopathy, Hereditary Progressive

Role

alias

Name

Asphyxiating Thoracic Dystrophy

Role

alias

Name

Asphyxiating Thoracic Dystrophy 3

Role

alias

Name

Asphyxiating Thoracic Dystrophy Of The Newborn

Role

alias

Name

Atriodigital Dysplasia Type 1

Role

alias

Name

Atrophia Bulborum Hereditaria

Role

alias

Name

Atypical Chédiak-Higashi Syndrome

Role

alias

Name

Autosomal Dominant Auditory Neuropathy 1

Role

alias

Name

Autosomal Dominant Craniometaphyseal Dysplasia

Role

alias

Name

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Role

alias

Name

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Role

alias

Name

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

Role

alias

Name

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

Role

alias

Name

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2

Role

alias

Name

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

Role

alias

Name

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Role

alias

Name

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 1

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 10

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 11

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 12

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 13

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 15

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 16

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 17

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 18

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 20

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 21

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 22

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 23

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 24

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 25

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 27

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 28

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 2A

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 2B

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 30

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 31

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 33

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 36

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 3A

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 3B

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 40

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 41

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 43

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 44

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 47

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 48

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 49

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 4A

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 4B

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 5

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 50

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 51

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 52

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 53

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 54

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 56

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 58

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 59

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 6

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 64

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 65

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 66

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 67

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 68

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 69

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 7

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 70

Role

alias

Name

Autosomal Dominant Nonsyndromic Deafness 9

Role

alias

Name

Autosomal Recessive Anhidrotic Ectodermal Dysplasia

Role

alias

Name

Autosomal Recessive Intellectual Disability Due To TRAPPC9 Deficiency

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2P

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2S

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U

Role

alias

Name

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y

Role

alias

Name

Autosomal Recessive Metaphyseal Chondrodysplasia

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 101

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 102

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 103

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 104

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 12

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 13

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 14

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 15

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 16

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 17

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 18A

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 18B

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 1A

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 1B

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 2

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 20

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 21

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 22

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 23

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 24

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 25

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 26

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 27

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 28

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 29

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 3

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 30

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 31

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 32

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 33

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 35

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 36

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 37

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 38

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 39

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 4

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 40

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 42

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 44

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 45

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 46

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 47

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 48

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 49

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 5

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 51

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 53

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 55

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 59

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 6

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 61

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 62

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 63

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 65

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 66

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 67

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 68

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 7

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 70

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 71

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 74

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 76

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 77

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 79

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 8

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 83

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 84A

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 84B

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 85

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 86

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 88

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 89

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 9

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 91

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 93

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 96

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 97

Role

alias

Name

Autosomal Recessive Nonsyndromic Deafness 98

Role

alias

Name

Autosomal Recessive Pericentral Pigmentary Retinopathy

Role

alias

Name

BANNAYAN-ZONANA SYNDROME

Role

alias

Name

BBS

Role

alias

Name

BBS10

Role

alias

Name

BBS11

Role

alias

Name

BBS12

Role

alias

Name

BBS13

Role

alias

Name

BBS16

Role

alias

Name

BBS17

Role

alias

Name

BBS18

Role

alias

Name

BBS19

Role

alias

Name

BBS3

Role

alias

Name

BBS5

Role

alias

Name

BBS6

Role

alias

Name

BBS7

Role

alias

Name

BBS8

Role

alias

Name

BBS9

Role

alias

Name

BDA1C

Role

alias

Name

BDA1D

Role

alias

Name

BDE

Role

alias

Name

BDE1

Role

alias

Name

BDPLT19

Role

alias

Name

BDPLT6

Role

alias

Name

BDSD

Role

alias

Name

BDSDO

Role

alias

Name

BECKER DISEASE

Role

alias

Name

BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION

Role

alias

Name

BETA-GALACTOSIDASE-1 DEFICIENCY

Role

alias

Name

BFLS

Role

alias

Name

Role

alias

Name

BLCPMG

Role

alias

Name

BLEEDING DISORDER, PLATELET-TYPE, 6

Role

alias

Name

BORJ

Role

alias

Name

BORJESON SYNDROME

Role

alias

Name

BOS

Role

alias

Name

BOWEN HUTTERITE SYNDROME, FORMERLY

Role

alias

Name

BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY

Role

alias

Name

BRACHYDACTYLY, TYPE E

Role

alias

Name

BROAD THUMB-HALLUX SYNDROME

Role

alias

Name

BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION

Role

alias

Name

BRRS

Role

alias

Name

BTHLM2

Role

alias

Name

BWCNS

Role

alias

Name

BWCR

Role

alias

Name

BWS

Role

alias

Name

BZS

Role

alias

Name

Baraitser-Brett-Piesowicz Syndrome

Role

alias

Name

Baraitser-Reardo

Role

alias

Name

Bardet-Biedl Syndrome 1

Role

alias

Name

Bardet-Biedl Syndrome 14

Role

alias

Name

Bardet-Biedl Syndrome 2

Role

alias

Name

Bardet-Biedl Syndrome 4

Role

alias

Name

Basal Laminar Drusen

Role

alias

Name

Bbs14

Role

alias

Name

Benign Meningeal Neoplasms

Role

alias

Name

Benign Neoplasm of Meninges, Unspecified

Role

alias

Name

Best Vitelliform Macular Dystrophy, Multifocal

Role

alias

Name

Bilateral Band-like Calcification With Polymicrogyria

Role

alias

Name

Bilateral Nerve Deafness

Role

alias

Name

Bilateral Sensorineural Deafness

Role

alias

Name

Bilateral Sensorineural Hearing Impairment

Role

alias

Name

Bilateral Sensorineural Hearing Loss

Role

alias

Name

Bleeding Disorder, Platelet-Type, 16

Role

alias

Name

Blindness, Color

Role

alias

Name

Blue Color Blindness

Role

alias

Name

Blue Cone Monochromacy

Role

alias

Name

Blue Yellow Color Blindness

Role

alias

Name

Blue-Yellow Dyschromatopsia

Role

alias

Name

Bowen Syndrome, Hutterite Type

Role

alias

Name

Brachydactyly Type A1D

Role

alias

Name

Brachydactyly Type A2

Role

alias

Name

Branchial Cleft Anomalies

Role

alias

Name

Branchial Cleft Cyst

Role

alias

Name

Branchial Cyst

Role

alias

Name

Branchial Cysts

Role

alias

Name

Branchiootorenal Dysplasia

Role

alias

Name

Burton Skeletal Dysplasia

Role

alias

Name

CAMOS

Role

alias

Name

CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES

Role

alias

Name

CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY

Role

alias

Name

CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY

Role

alias

Name

CATMANS

Role

alias

Name

CBD

Role

alias

Name

CBP

Role

alias

Name

CCMS

Role

alias

Name

CDCBM1

Role

alias

Name

CDCBM7

Role

alias

Name

CDFE SYNDROME

Role

alias

Name

CDFES

Role

alias

Name

CDSRR

Role

alias

Name

CED

Role

alias

Name

CED1

Role

alias

Name

CED2

Role

alias

Name

CED3

Role

alias

Name

CED4

Role

alias

Name

CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES

Role

alias

Name

CEREBELLO-CEREBRAL ATROPHY, PROGRESSIVE

Role

alias

Name

CEREBELLOOCULORENAL SYNDROME 1

Role

alias

Name

CEREBELLOOCULORENAL SYNDROME 2

Role

alias

Name

CEREBELLOPARENCHYMAL DISORDER IV

Role

alias

Name

CEREBRAL GIGANTISM

Role

alias

Name

CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME

Role

alias

Name

CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME

Role

alias

Name

CFC SYNDROME

Role

alias

Name

CFC1

Role

alias

Name

CFC2

Role

alias

Name

CFC3

Role

alias

Name

CFC4

Role

alias

Name

CFCS

Role

alias

Name

CHAR

Role

alias

Name

CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES

Role

alias

Name

CHARGE Association

Role

alias

Name

CHARGE-LIKE SYNDROME, X-LINKED

Role

alias

Name

CHARGE-like Syndrome

Role

alias

Name

CHH

Role

alias

Name

CHHV

Role

alias

Name

CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES

Role

alias

Name

CHONDRODYSTROPHIC MYOTONIA

Role

alias

Name

CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN

Role

alias

Name

CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB

Role

alias

Name

CHROMOSOME 5q35 DELETION SYNDROME

Role

alias

Name

CHS1, FORMERLY

Role

alias

Name

CIO

Role

alias

Name

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8

Role

alias

Name

CLOVE SYNDROME

Role

alias

Name

CLOVES SYNDROME

Role

alias

Name

CMD

Role

alias

Name

CMDD

Role

alias

Name

CMDJ

Role

alias

Name

COA

Role

alias

Name

COCHLEOSACCULAR DEGENERATION

Role

alias

Name

COD-MD SYNDROME

Role

alias

Name

COD4

Role

alias

Name

COH

Role

alias

Name

COH1

Role

alias

Name

COLORBLINDNESS, TOTAL

Role

alias

Name

CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED

Role

alias

Name

CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED

Role

alias

Name

CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES

Role

alias

Name

CONE-ROD DEGENERATION, X-LINKED

Role

alias

Name

CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA

Role

alias

Name

CONE-ROD DYSTROPHY, AIPL1-RELATED

Role

alias

Name

CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES

Role

alias

Name

CORD10

Role

alias

Name

CORD13

Role

alias

Name

CORD15

Role

alias

Name

CORD16

Role

alias

Name

CORD21

Role

alias

Name

CORS1

Role

alias

Name

CORS2

Role

alias

Name

CORTICAL HYPEROSTOSIS WITH SYNDACTYLY

Role

alias

Name

CPD IV

Role

alias

Name

CPD4

Role

alias

Name

CPHD1

Role

alias

Name

CPHD2

Role

alias

Name

CPHD4

Role

alias

Name

CPHD6

Role

alias

Name

CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE

Role

alias

Name

CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES

Role

alias

Name

CREE ENCEPHALITIS

Role

alias

Name

CURRARINO IDIOPATHIC OSTEOARTHROPATHY

Role

alias

Name

CWS3

Role

alias

Name

CWS5

Role

alias

Name

CWS6

Role

alias

Name

Camptodactyly-overgrowth-unusual Facies Syndrome

Role

alias

Name

Cardiomyopathy And Cataract

Role

alias

Name

Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism

Role

alias

Name

Catel-Hempel Syndrome

Role

alias

Name

Cdd

Role

alias

Name

Cenani-Lenz Syndactyly Syndrome

Role

alias

Name

Cerebellar Vermis Aplasia

Role

alias

Name

Cerebral Pachygyria

Role

alias

Name

Cerebrooculodentoauriculoskeletal Syndrome

Role

alias

Name

Chdthp

Role

alias

Name

Chondroectodermal Dysplasia

Role

alias

Name

Chromosome 11Q23 Deletion Syndrome

Role

alias

Name

Chromosome 15Q13.3 Deletion Syndrome

Role

alias

Name

Chromosome 15Q24 Deletion Syndrome

Role

alias

Name

Chromosome 16P11.2 Deletion Syndrome, 220Kb

Role

alias

Name

Chromosome 16P12.2-P11.2 Deletion Syndrome

Role

alias

Name

Chromosome 17P13.1 Deletion Syndrome

Role

alias

Name

Chromosome 18 Deletion Syndrome

Role

alias

Name

Chromosome 18Q Deletion Syndrome

Role

alias

Name

Chromosome 1Q21.1 Deletion Syndrome

Role

alias

Name

Chromosome 1Q41-Q42 Deletion Syndrome

Role

alias

Name

Chromosome 2P16.1-P15 Deletion Syndrome

Role

alias

Name

Chromosome 3Pter-P25 Deletion Syndrome

Role

alias

Name

Chromosome 8Q21.11 Deletion Syndrome

Role

alias

Name

Chromosome 9, Partial Monosomy 9P

Role

alias

Name

Classic Joubert Syndrome

Role

alias

Name

Classic Lissencephaly

Role

alias

Name

Cleft Hand Absent Tibia

Role

alias

Name

Cleft Hand And Absent Tibia

Role

alias

Name

Cleft Palate-coloboma-deafness Syndrome

Role

alias

Name

Clouston Syndrome

Role

alias

Name

Clss

Role

alias

Name

Clubbed Nail Pachydermoperiostosis

Role

alias

Name

Cmdr

Role

alias

Name

Coloboma-heart Defects-atresia Choanae-retardation Of Growth And Development-genitourinary Problems-ear Abnormalities Syndrome

Role

alias

Name

Color Vision Defects

Role

alias

Name

Colour Vision Deficiencies

Role

alias

Name

Combined Pituitary Hormone Deficiency

Role

alias

Name

Complete Achromatopsia

Role

alias

Name

Complex Cortical Dysplasia With Other Brain Malformations 1

Role

alias

Name

Complex Cortical Dysplasia With Other Brain Malformations 7

Role

alias

Name

Cone Rod Dystrophy-amelogenesis Imperfecta Syndrome

Role

alias

Name

Cone-Rod Dystrophy

Role

alias

Name

Cone-Rod Dystrophy 12

Role

alias

Name

Cone-Rod Dystrophy 3

Role

alias

Name

Cone-Rod Retinal Dystrophy

Role

alias

Name

Cone/Cone-Rod Dystrophy

Role

alias

Name

Congenital Absence of Skin

Role

alias

Name

Congenital Absence of Unspecified Limb(S)

Role

alias

Name

Congenital Heart Defects, Hamartomas of Tongue, And Polysyndactyly

Role

alias

Name

Congenital Hypogonadotropic Hypogonadism With Anosmia

Role

alias

Name

Congenital Malformation Syndromes Predominantly Involving Limbs

Role

alias

Name

Congenital Megacolon

Role

alias

Name

Congenital Muscular Dystrophy

Role

alias

Name

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Role

alias

Name

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Role

alias

Name

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Role

alias

Name

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Role

alias

Name

Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Role

alias

Name

Congenital Myopathy

Role

alias

Name

Congenital Partial Albinism On Face, Trunk, Or Limbs

Role

alias

Name

Congenital Partial Leucoderma

Role

alias

Name

Congenital Scalp Defects With Distal Limb Anomalies

Role

alias

Name

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Role

alias

Name

Cord12

Role

alias

Name

Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome

Role

alias

Name

Cortical Hyperostosis-syndactyly Syndrome

Role

alias

Name

Craniocerebellocardiac Dysplasia

Role

alias

Name

Craniodiaphyseal Dysplasia, Autosomal Dominant

Role

alias

Name

Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome

Role

alias

Name

Craniofacial Dysmorphism-coloboma-corpus Callosum Agenesis Syndrome

Role

alias

Name

Craniometaphyseal Dysplasia, Autosomal Recessive

Role

alias

Name

Craniosynostosis-midfacial Hypoplasia-foot Abnormalities Syndrome

Role

alias

Name

Currarino Disease

Role

alias

Name

Cutis Aplasia

Role

alias

Name

Cystic Medial Necrosis of The Aorta

Role

alias

Name

DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

Role

alias

Name

DBQD

Role

alias

Name

DBQD1

Role

alias

Name

DBQD2

Role

alias

Name

DBS/FOAR Syndrome

Role

alias

Name

DC SYNDROME

Role

alias

Name

DCB

Role

alias

Name

DEAFNESS, AUTOSOMAL DOMINANT 14

Role

alias

Name

DEAFNESS, AUTOSOMAL DOMINANT 38

Role

alias

Name

DEAFNESS, AUTOSOMAL DOMINANT 8

Role

alias

Name

DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT

Role

alias

Name

DEAFNESS, AUTOSOMAL RECESSIVE 11

Role

alias

Name

DEAFNESS, AUTOSOMAL RECESSIVE 72

Role

alias

Name

DEAFNESS, AUTOSOMAL RECESSIVE 84

Role

alias

Name

DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION

Role

alias

Name

DEAFNESS, AUTOSOMAL RECESSIVE 95

Role

alias

Name

DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES

Role

alias

Name

DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS

Role

alias

Name

DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED

Role

alias

Name

DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS

Role

alias

Name

DERMATOOSTEOPOIKILOSIS

Role

alias

Name

DESBUQUOIS DYSPLASIA, KIM VARIANT

Role

alias

Name

DEUTAN COLORBLINDNESS

Role

alias

Name

DFNA10

Role

alias

Name

DFNA11

Role

alias

Name

DFNA12

Role

alias

Name

DFNA13

Role

alias

Name

DFNA14

Role

alias

Name

DFNA15

Role

alias

Name

DFNA17

Role

alias

Name

DFNA20

Role

alias

Name

DFNA22

Role

alias

Name

DFNA23

Role

alias

Name

DFNA26

Role

alias

Name

DFNA28

Role

alias

Name

DFNA2A

Role

alias

Name

DFNA2B

Role

alias

Name

DFNA36

Role

alias

Name

DFNA38

Role

alias

Name

DFNA3B

Role

alias

Name

DFNA40

Role

alias

Name

DFNA44

Role

alias

Name

DFNA48

Role

alias

Name

DFNA4B

Role

alias

Name

DFNA50

Role

alias

Name

DFNA56

Role

alias

Name

DFNA6

Role

alias

Name

DFNA64

Role

alias

Name

DFNA65

Role

alias

Name

DFNA66

Role

alias

Name

DFNA67

Role

alias

Name

DFNA70

Role

alias

Name

DFNA8

Role

alias

Name

DFNA9

Role

alias

Name

DFNB101

Role

alias

Name

DFNB102

Role

alias

Name

DFNB103

Role

alias

Name

DFNB104

Role

alias

Name

DFNB11

Role

alias

Name

DFNB12

Role

alias

Name

DFNB15

Role

alias

Name

DFNB16

Role

alias

Name

DFNB18B

Role

alias

Name

DFNB1B

Role

alias

Name

DFNB2

Role

alias

Name

DFNB21

Role

alias

Name

DFNB22

Role

alias

Name

DFNB23

Role

alias

Name

DFNB24

Role

alias

Name

DFNB25

Role

alias

Name

DFNB28

Role

alias

Name

DFNB29

Role

alias

Name

DFNB3

Role

alias

Name

DFNB30

Role

alias

Name

DFNB31

Role

alias

Name

DFNB35

Role

alias

Name

DFNB36

Role

alias

Name

DFNB37

Role

alias

Name

DFNB4

Role

alias

Name

DFNB44

Role

alias

Name

DFNB48

Role

alias

Name

DFNB49

Role

alias

Name

DFNB53

Role

alias

Name

DFNB59

Role

alias

Name

DFNB6

Role

alias

Name

DFNB61

Role

alias

Name

DFNB63

Role

alias

Name

DFNB66

Role

alias

Name

DFNB67

Role

alias

Name

DFNB68

Role

alias

Name

DFNB7

Role

alias

Name

DFNB70

Role

alias

Name

DFNB72

Role

alias

Name

DFNB74

Role

alias

Name

DFNB76

Role

alias

Name

DFNB79

Role

alias

Name

DFNB84

Role

alias

Name

DFNB84A

Role

alias

Name

DFNB84B

Role

alias

Name

DFNB86

Role

alias

Name

DFNB88

Role

alias

Name

DFNB89

Role

alias

Name

DFNB9

Role

alias

Name

DFNB91

Role

alias

Name

DFNB93

Role

alias

Name

DFNB95

Role

alias

Name

DFNB98

Role

alias

Name

DHD

Role

alias

Name

DHRD

Role

alias

Name

DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA

Role

alias

Name

DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM

Role

alias

Name

DILATED VESTIBULAR AQUEDUCT

Role

alias

Name

DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED

Role

alias

Name

DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED

Role

alias

Name

Role

alias

Name

DM1

Role

alias

Name

DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS

Role

alias

Name

DOUBLE CORTEX SYNDROME

Role

alias

Name

DOYNE HONEYCOMB DEGENERATION OF RETINA

Role

alias

Name

DR SYNDROME

Role

alias

Name

DRRD

Role

alias

Name

DRRS

Role

alias

Name

DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS

Role

alias

Name

DVA

Role

alias

Name

DWARFISM OF SINDH

Role

alias

Name

DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY

Role

alias

Name

DYSPLASIA OLFACTOGENITALIS OF DE MORSIER

Role

alias

Name

DYSTROPHIA MYOTONICA

Role

alias

Name

DYSTROPHIA MYOTONICA 1

Role

alias

Name

De Morsier Syndrome

Role

alias

Name

Deafness, Autosomal Dominant 1

Role

alias

Name

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

Role

alias

Name

Deafness, Autosomal Dominant 25

Role

alias

Name

Deafness, Autosomal Dominant 3A

Role

alias

Name

Deafness, Autosomal Dominant 41

Role

alias

Name

Deafness, Autosomal Dominant 4A

Role

alias

Name

Deafness, Autosomal Dominant 5

Role

alias

Name

Deafness, Autosomal Recessive

Role

alias

Name

Deafness, Autosomal Recessive 105, Formerly

Role

alias

Name

Deafness, Autosomal Recessive 17

Role

alias

Name

Deafness, Autosomal Recessive 18A

Role

alias

Name

Deafness, Autosomal Recessive 1A

Role

alias

Name

Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm

Role

alias

Name

Deafness, Autosomal Recessive 39

Role

alias

Name

Deafness, Autosomal Recessive 4

Role

alias

Name

Deafness, Autosomal Recessive 42

Role

alias

Name

Deafness, Autosomal Recessive 77

Role

alias

Name

Deafness, Autosomal Recessive 8

Role

alias

Name

Deafness, Digenic, Gjb2-Gjb3

Role

alias

Name

Deafness, Digenic, Gjb2-Gjb6

Role

alias

Name

Deafness, X-Linked 1

Role

alias

Name

Deafness, X-Linked 2, Sensorineural Congenital

Role

alias

Name

Deafness-Intellectual Disability, Martin-Probst Type Syndrome

Role

alias

Name

Decreased Activity of Gonads

Role

alias

Name

Decreased Beta Galactosidase Activity

Role

alias

Name

Decreased Function of Male Gonad

Role

alias

Name

Defect, Color Vision

Role

alias

Name

Del(1)p(21.3)

Role

alias

Name

Del(11)(q23.3)

Role

alias

Name

Del(11)(qter)

Role

alias

Name

Del(12)(q14)

Role

alias

Name

Del(13)(q14)

Role

alias

Name

Del(14)(q12)

Role

alias

Name

Del(15)(q24)

Role

alias

Name

Del(16)(q24.3)

Role

alias

Name

Del(17)(q12)

Role

alias

Name

Del(17)(q23.1q23.2)

Role

alias

Name

Del(2)(p21)

Role

alias

Name

Del(20)(p12.3)

Role

alias

Name

Del(6)(q16)

Role

alias

Name

Del(6)(q25)

Role

alias

Name

Del(8)(p11.2)

Role

alias

Name

Del(8)(p23.1)

Role

alias

Name

Deletion 12q14

Role

alias

Name

Deletion 13q14

Role

alias

Name

Deletion 8q24.1

Role

alias

Name

Desbuquois Dysplasia

Role

alias

Name

Deuteranomoly

Role

alias

Name

Diabetes-hypogonadism-deafness-intellectual Disability Syndrome

Role

alias

Name

Diaphragmatic Hernia-abnormal Face-distal Limb Anomalies Syndrome

Role

alias

Name

Diaphragmatic Hernia-exomphalos-hypertelorism Syndrome

Role

alias

Name

Diaphyseal Aclasis

Role

alias

Name

Digital Clubbing, Isolated Congenital

Role

alias

Name

Disorder of Sex Development, 46,Xy

Role

alias

Name

Disorders of Amino-Acid Transport

Role

alias

Name

Disseminated Dermatofibrosis With Osteopoikilosis

Role

alias

Name

Distal 10Q Deletion Syndrome

Role

alias

Name

Distal 3p Deletion

Role

alias

Name

Distal Del(16)(p11.2)

Role

alias

Name

Distal Deletion 11q

Role

alias

Name

Distal Deletion 1q

Role

alias

Name

Distal Monosomy 11q

Role

alias

Name

Distal Monosomy 16p11.2

Role

alias

Name

Distal Myopathies

Role

alias

Name

Distal Myopathy

Role

alias

Name

Dominant Pericentral Pigmentary Retinopathy

Role

alias

Name

Duane Anomaly

Role

alias

Name

Duane Retraction Syndrome 1

Role

alias

Name

Duane Retraction Syndrome 2

Role

alias

Name

Duane Syndrome

Role

alias

Name

Dwarfism, Pituitary

Role

alias

Name

Dyschromatopsia With Red-Green Confusion

Role

alias

Name

Dyschromatopsia, Blue-Yellow

Role

alias

Name

Dysostosis Enc

Role

alias

Name

Dysplastic Gangliocytoma of The Cerebellum

Role

alias

Name

EA1

Role

alias

Name

EAM

Role

alias

Name

ECO

Role

alias

Name

ECTD10A

Role

alias

Name

ECTD10B

Role

alias

Name

ECTD11B

Role

alias

Name

ECTODERMAL DYSPLASIA, ANHIDROTIC

Role

alias

Name

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE

Role

alias

Name

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY

Role

alias

Name

ECTODERMAL DYSPLASIA, HYPOHIDROTIC

Role

alias

Name

ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT

Role

alias

Name

EDA

Role

alias

Name

EDA-ID

Role

alias

Name

EEC SYNDROME 3

Role

alias

Name

EEC3

Role

alias

Name

ELATTOPROTEUS SYNDROME

Role

alias

Name

EMG SYNDROME

Role

alias

Name

ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS

Role

alias

Name

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE

Role

alias

Name

EPISKOPI BLINDNESS

Role

alias

Name

EPISODIC ATAXIA WITH MYOKYMIA

Role

alias

Name

EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

Role

alias

Name

EXT2

Role

alias

Name

EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA

Role

alias

Name

Ectodermal Dysplasia (Anhidrotic)

Role

alias

Name

Ectodermal Dysplasia 1, Anhidrotic

Role

alias

Name

Ectodermal Dysplasia And Immunodeficiency 1

Role

alias

Name

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

Role

alias

Name

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3

Role

alias

Name

Ectrodactyly-Cleft Lip-Palate Syndrome

Role

alias

Name

Ectrodactyly-ectodermal Dysplasia-cleft Lip/palate Syndrome

Role

alias

Name

Emery-Dreifuss Muscular Dystrophy

Role

alias

Name

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Role

alias

Name

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

Role

alias

Name

Encephalofacial Angiomatosis

Role

alias

Name

Encephalotrigeminal Angiomatosis

Role

alias

Name

Enchondromatosis, Multiple, Ollier Type

Role

alias

Name

Endocrine-Cerebro-Osteodysplasia Syndrome

Role

alias

Name

Enlarged Colon Lacking Nerve Cells

Role

alias

Name

Epstein Syndrome

Role

alias

Name

Erdheim Cystic Medial Necrosis of Aorta

Role

alias

Name

Exercise-induced Delayed-onset Myotonia

Role

alias

Name

Exostoses, Multiple Hereditary

Role

alias

Name

Exostoses, Multiple, Type I

Role

alias

Name

FAA4

Role

alias

Name

FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES

Role

alias

Name

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

Role

alias

Name

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE

Role

alias

Name

FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD

Role

alias

Name

FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2

Role

alias

Name

FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

Role

alias

Name

FEINGOLD SYNDROME

Role

alias

Name

FERTILE EUNUCH SYNDROME

Role

alias

Name

FGLDS1

Role

alias

Name

FGLDS2

Role

alias

Name

FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS

Role

alias

Name

FINLAY-MARKS SYNDROME

Role

alias

Name

FLHS

Role

alias

Name

FMD

Role

alias

Name

FONG DISEASE

Role

alias

Name

FSH Dystrophy

Role

alias

Name

FSHD

Role

alias

Name

FSHD1

Role

alias

Name

FSHD1A

Role

alias

Name

Facio-oculo-acoustico-renal Syndrome

Role

alias

Name

Facioscapulohumeral Muscular Dystrophy 2

Role

alias

Name

Facioscapulohumeral Myopathy

Role

alias

Name

Familial Congenital Hypopituitarism

Role

alias

Name

Familial Incomplete Male Pseudohermaphroditism, Type 1

Role

alias

Name

Familial TAAD

Role

alias

Name

Fechtner Syndrome

Role

alias

Name

Fewer Or Absent Grooves In Brain

Role

alias

Name

Fleisher Syndrome

Role

alias

Name

Fluctuating Myotonia

Role

alias

Name

Fukuyama Congenital Muscular Dystrophy

Role

alias

Name

Fundus Flavimaculatus

Role

alias

Name

GAMOS

Role

alias

Name

GAMSTORP-WOHLFART SYNDROME

Role

alias

Name

GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM

Role

alias

Name

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1

Role

alias

Name

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

Role

alias

Name

GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY

Role

alias

Name

GLB1 DEFICIENCY

Role

alias

Name

GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT

Role

alias

Name

GOLABI-ITO-HALL SYNDROME

Role

alias

Name

GREEN COLORBLINDNESS

Role

alias

Name

GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT

Role

alias

Name

GTPTS

Role

alias

Name

Galloway Syndrome

Role

alias

Name

Galloway-Mowat Syndrome 2

Role

alias

Name

Gangliosidosis Gm1, Type 1

Role

alias

Name

Gangliosidosis, Gm1

Role

alias

Name

Glass Syndrome

Role

alias

Name

Gm1 Gangliosidosis

Role

alias

Name

Gm1 Gangliosidosis Type 1

Role

alias

Name

Gm1 Gangliosidosis Type 2

Role

alias

Name

Gm1 Gangliosidosis Type 3

Role

alias

Name

Gm1-Gangliosidosis, Type Ii

Role

alias

Name

Gm1-Gangliosidosis, Type Iii

Role

alias

Name

Goldberg-Shprintzen Syndrome

Role

alias

Name

Gonadal Dysgenesis, Male

Role

alias

Name

Gonadotropic Deficiency

Role

alias

Name

Green-Blind

Role

alias

Name

Green-Weak

Role

alias

Name

Griscelli Syndrome

Role

alias

Name

Griscelli Syndrome Type 2

Role

alias

Name

Growth Hormone Deficiency With Hypogammaglobulinemia

Role

alias

Name

HANHART DWARFISM

Role

alias

Name

HARD SYNDROME

Role

alias

Name

HCS

Role

alias

Name

HEART-HAND SYNDROME

Role

alias

Name

HED

Role

alias

Name

HED-ID

Role

alias

Name

HH1

Role

alias

Name

HH10

Role

alias

Name

HH11

Role

alias

Name

HH13

Role

alias

Name

HH14

Role

alias

Name

HH17

Role

alias

Name

HH18

Role

alias

Name

HH19

Role

alias

Name

HH2

Role

alias

Name

HH20

Role

alias

Name

HH21

Role

alias

Name

HH22

Role

alias

Name

HH23

Role

alias

Name

HH3

Role

alias

Name

HH4

Role

alias

Name

HH5

Role

alias

Name

HH6

Role

alias

Name

HH7

Role

alias

Name

HH8

Role

alias

Name

HH9

Role

alias

Name

HHA

Role

alias

Name

HHS

Role

alias

Name

HHT5

Role

alias

Name

HOLOPROSENCEPHALY-AGNATHIA

Role

alias

Name

HOS

Role

alias

Name

HOS1

Role

alias

Name

HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA

Role

alias

Name

HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA

Role

alias

Name

HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME

Role

alias

Name

HYPERPHOSPHATASEMIA TARDA

Role

alias

Name

HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME

Role

alias

Name

HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA

Role

alias

Name

HYPOTONIA, OBESITY, AND PROMINENT INCISORS

Role

alias

Name

Hall-Hittner Syndrome

Role

alias

Name

Hamartomatous Intestinal Polyposis

Role

alias

Name

Hartnup Disorder

Role

alias

Name

Hauptmann-Thannhauser Muscular Dystrophy

Role

alias

Name

Hearing Loss, Sensorineural, Bilateral

Role

alias

Name

Heart-hand Syndrome Type 1

Role

alias

Name

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Role

alias

Name

Hemi 3 Syndrome

Role

alias

Name

Hemicorporal Hypertrophy

Role

alias

Name

Hemorrhagic Telangiectasia, Hereditary

Role

alias

Name

Hereditary Haemorrhagic Telangiectasia

Role

alias

Name

Hht2

Role

alias

Name

Hirschsprung Megacolon

Role

alias

Name

Hirschsprung'S Disease

Role

alias

Name

Holmes-Schepens Syndrome

Role

alias

Name

Hydrancephaly

Role

alias

Name

Hypergonadotrophic Hypogonadism

Role

alias

Name

Hypergonadotropic Hypogonadism

Role

alias

Name

Hyperossification of Skull

Role

alias

Name

Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

Role

alias

Name

Hypogonadism, Hypogonadotropic

Role

alias

Name

Hypogonadism, Male

Role

alias

Name

Hypogonadotrophic Hypogonadism

Role

alias

Name

Hypogonadotropic Hypogonadism 12 With Or Without Anosmia

Role

alias

Name

Hypogonadotropic Hypogonadism 23 With Or Without Anosmia

Role

alias

Name

Hypohidrotic Ectodermal Dysplasia

Role

alias

Name

IGHD IB

Role

alias

Name

IGHD II

Role

alias

Name

IGHD1B

Role

alias

Name

IGHD2

Role

alias

Name

IHH

Role

alias

Name

ILS

Role

alias

Name

INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME

Role

alias

Name

ISAACS-MERTENS SYNDROME

Role

alias

Name

Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia

Role

alias

Name

Ifap Syndrome With Or Without Bresheck Syndrome

Role

alias

Name

Imperforate Anus With Hand, Foot And Ear Anomalies

Role

alias

Name

Incomplete Achromatopsia

Role

alias

Name

Increased Skull Ossification

Role

alias

Name

Index Finger Anomaly-Pierre Robin Syndrome

Role

alias

Name

Intellectual Disability-epilepsy-endocrine Disorders Syndrome

Role

alias

Name

Isolated Congenital Gonadotropin Deficiency

Role

alias

Name

Isolated Growth Hormone Deficiency

Role

alias

Name

Isolated Growth Hormone Deficiency Type Ia

Role

alias

Name

Isolated Growth Hormone Deficiency Type Ib

Role

alias

Name

Isolated Growth Hormone Deficiency Type Ii

Role

alias

Name

Isolated Growth Hormone Deficiency Type Iii

Role

alias

Name

Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia

Role

alias

Name

Isolated Hemihypertrophy

Role

alias

Name

Isolated Hypogonadotropic Hypogonadism

Role

alias

Name

JATD

Role

alias

Name

JBS

Role

alias

Name

JBTS

Role

alias

Name

JBTS1

Role

alias

Name

JBTS14

Role

alias

Name

JBTS16

Role

alias

Name

JBTS19

Role

alias

Name

JBTS2

Role

alias

Name

JBTS21

Role

alias

Name

JBTS24

Role

alias

Name

JBTS25

Role

alias

Name

JBTS3

Role

alias

Name

JBTS6

Role

alias

Name

JBTS7

Role

alias

Name

JOUBERT-BOLTSHAUSER SYNDROME

Role

alias

Name

JWS

Role

alias

Name

Jeune Asphyxiating Thoracic Dystrophy

Role

alias

Name

Johanson Blizzard Syndrome

Role

alias

Name

Joubert Syndrome 8

Role

alias

Name

Joubert Syndrome Type A

Role

alias

Name

Juvenile Nephronophthisis

Role

alias

Name

KAL1

Role

alias

Name

KAL2

Role

alias

Name

KALLMANN SYNDROME 2

Role

alias

Name

KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY

Role

alias

Name

KMS

Role

alias

Name

KTLS

Role

alias

Name

Kennedy'S Disease

Role

alias

Name

Keratoderma With Woolly Hair Type I

Role

alias

Name

Keratosis Palmoplantaris With Arrythmogenic

Role

alias

Name

Klein-Waardenburg Syndrome

Role

alias

Name

Klippel-Trenaunay Syndrome

Role

alias

Name

Konigsmark Syndrome

Role

alias

Name

LAING DISTAL MYOPATHY

Role

alias

Name

LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

Role

alias

Name

LCA11

Role

alias

Name

LCA13

Role

alias

Name

LCA14

Role

alias

Name

LCA15

Role

alias

Name

LCA16

Role

alias

Name

LCA17

Role

alias

Name

LCA18

Role

alias

Name

LCA3

Role

alias

Name

LCA4

Role

alias

Name

LCA5

Role

alias

Name

LCA7

Role

alias

Name

LCA8

Role

alias

Name

LEVIN SYNDROME I

Role

alias

Name

LGMD1C

Role

alias

Name

LGMD1D, FORMERLY

Role

alias

Name

LGMD1E

Role

alias

Name

LGMD2N

Role

alias

Name

LGMD2O

Role

alias

Name

LGMD2P

Role

alias

Name

LGMD2T

Role

alias

Name

LGMD2U

Role

alias

Name

LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA

Role

alias

Name

LIS1

Role

alias

Name

LIS3

Role

alias

Name

LIS4

Role

alias

Name

LIS5

Role

alias

Name

LISSENCEPHALY 4, WITH MICROCEPHALY

Role

alias

Name

LISSENCEPHALY SEQUENCE, ISOLATED

Role

alias

Name

LISSENCEPHALY, CLASSIC

Role

alias

Name

LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA

Role

alias

Name

LISX1

Role

alias

Name

LISX2

Role

alias

Name

LNMS

Role

alias

Name

LSS

Role

alias

Name

Landouzy-Dejerine Myopathy

Role

alias

Name

Late-Adult Onset Retinitis Pigmentosa

Role

alias

Name

Laurin Sandrow Syndrome

Role

alias

Name

Lca12

Role

alias

Name

Lca6

Role

alias

Name

Ldd

Role

alias

Name

Lds1

Role

alias

Name

Leber Congenital Amaurosis 1

Role

alias

Name

Leber Congenital Amaurosis 10

Role

alias

Name

Leber Congenital Amaurosis 12

Role

alias

Name

Leber Congenital Amaurosis 2

Role

alias

Name

Leber Congenital Amaurosis 6

Role

alias

Name

Leber Congenital Amaurosis 9

Role

alias

Name

Leptomeninges Sarcoma

Role

alias

Name

Lgmd1B

Role

alias

Name

Lgmd2L

Role

alias

Name

Lgmdd3

Role

alias

Name

Lgmdr3

Role

alias

Name

Limb Girdle Muscular Dystrophy

Role

alias

Name

Limb, Scalp And Skull Defects

Role

alias

Name

Limb-Girdle Muscular Dystrophy

Role

alias

Name

Limb-Girdle Muscular Dystrophy, Type 1B

Role

alias

Name

Limb-Girdle Muscular Dystrophy, Type 1G

Role

alias

Name

Limb-Girdle Muscular Dystrophy, Type 2B

Role

alias

Name

Limb-Girdle Muscular Dystrophy, Type 2C

Role

alias

Name

Lissencephaly Due To 17p13.3 Deletion

Role

alias

Name

Lissencephaly, Type I

Role

alias

Name

Loeys-Dietz Syndrome 1

Role

alias

Name

Loeys-Dietz Syndrome 2

Role

alias

Name

Low Gonadotropins (Secondary Hypogonadism)

Role

alias

Name

Lubs Syndrome

Role

alias

Name

Lujan Syndrome

Role

alias

Name

Lymphoplasmacyte-Rich Meningioma

Role

alias

Name

MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA

Role

alias

Name

MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA

Role

alias

Name

MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS

Role

alias

Name

MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS

Role

alias

Name

MADB

Role

alias

Name

MAL DE NAXOS

Role

alias

Name

MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY

Role

alias

Name

MCCRP1

Role

alias

Name

MCCRP3

Role

alias

Name

MD1

Role

alias

Name

MDDGA1

Role

alias

Name

MDDGA11

Role

alias

Name

MDDGA2

Role

alias

Name

MDDGA3

Role

alias

Name

MDDGA6

Role

alias

Name

MDDGC14

Role

alias

Name

MDDGC2

Role

alias

Name

MDDGC3

Role

alias

Name

MDDGC7

Role

alias

Name

MDDGC9

Role

alias

Name

MEG-PMG-MEGACC SYNDROME

Role

alias

Name

MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT

Role

alias

Name

MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME

Role

alias

Name

MELNICK-NEEDLES OSTEODYSPLASTY

Role

alias

Name

MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM

Role

alias

Name

MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS

Role

alias

Name

MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME

Role

alias

Name

MENTAL RETARDATION, X-LINKED 55

Role

alias

Name

MENTAL RETARDATION, X-LINKED, RENPENNING TYPE

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SHASHI TYPE

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC 3

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC 30

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC 8

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE

Role

alias

Name

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE

Role

alias

Name

MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

Role

alias

Name

MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA

Role

alias

Name

METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL

Role

alias

Name

MHA

Role

alias

Name

MICPCH

Role

alias

Name

MICPCH SYNDROME

Role

alias

Name

MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE

Role

alias

Name

MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME

Role

alias

Name

MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME

Role

alias

Name

MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME

Role

alias

Name

MICROGNATHIA DIGITAL SYNDROME

Role

alias

Name

MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION

Role

alias

Name

MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR

Role

alias

Name

MIP

Role

alias

Name

MIRROR HANDS AND FEET WITH NASAL DEFECTS

Role

alias

Name

MIRROR-IMAGE POLYDACTYLY

Role

alias

Name

MIYOSHI MYOPATHY 3

Role

alias

Name

MLA

Role

alias

Name

MLVT

Role

alias

Name

MMD3

Role

alias

Name

MMT SYNDROME

Role

alias

Name

MNS

Role

alias

Name

MODED

Role

alias

Name

MORQUIO SYNDROME B

Role

alias

Name

MPD1

Role

alias

Name

MPPH

Role

alias

Name

MPPH Syndrome

Role

alias

Name

MPPH1

Role

alias

Name

MPPH2

Role

alias

Name

MPPH3

Role

alias

Name

MPS IVB

Role

alias

Name

MPS4B

Role

alias

Name

MRX55

Role

alias

Name

MRXS11

Role

alias

Name

MRXS14

Role

alias

Name

MRXS3

Role

alias

Name

MRXS30

Role

alias

Name

MRXS8

Role

alias

Name

MRXSBFL

Role

alias

Name

MRXSCH

Role

alias

Name

MRXSN

Role

alias

Name

MRXSNA

Role

alias

Name

MRXSR

Role

alias

Name

MSBD Syndrome

Role

alias

Name

MTDPS12B

Role

alias

Name

MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT

Role

alias

Name

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1

Role

alias

Name

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T

Role

alias

Name

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U

Role

alias

Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED

Role

alias

Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED

Role

alias

Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED

Role

alias

Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED

Role

alias

Name

MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA

Role

alias

Name

MYOKYMIA WITH PERIODIC ATAXIA

Role

alias

Name

MYOKYMIA, MYOTONIA, AND MUSCLE WASTING

Role

alias

Name

MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT

Role

alias

Name

MYOPATHY, DISTAL, SWEDISH

Role

alias

Name

MYOPATHY, LATE DISTAL HEREDITARY

Role

alias

Name

MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE

Role

alias

Name

MYOTONIA CONGENITA, ATYPICAL

Role

alias

Name

MYOTONIA, GENERALIZED

Role

alias

Name

MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES

Role

alias

Name

Macrogyria

Role

alias

Name

Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss

Role

alias

Name

Macular Dystrophy With Flecks Type 1

Role

alias

Name

Macular Dystrophy, Vitelliform, 2

Role

alias

Name

Male Hypogonadism

Role

alias

Name

Male Pseudohermaphroditism Due To 5-alpha-reductase 2 Deficiency

Role

alias

Name

Male Pseudohermaphroditism Due To Deficiency of Testicular 17,20-Desmolase

Role

alias

Name

Marfan'S Syndrome

Role

alias

Name

Mds

Role

alias

Name

Medullary Cystic Kidney

Role

alias

Name

Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Role

alias

Name

Meninges Sarcoma

Role

alias

Name

Meninges, Unspecified

Role

alias

Name

Meningioma, Microcystic

Role

alias

Name

Meningioma, Secretory

Role

alias

Name

Meningotheliomatous Meningioma

Role

alias

Name

Mental Retardation X-Linked Syndromic 11

Role

alias

Name

Mental Retardation, X-Linked, Syndromic 5

Role

alias

Name

Mental Retardation, X-Linked, Syndromic, Jarid1C-Related

Role

alias

Name

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Role

alias

Name

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Role

alias

Name

Mental Retardation, X-Linked, With Brachydactyly And Macroglossia

Role

alias

Name

Mental Retardation, X-Linked, With Short Stature, Small Testes, Muscle Wasting, And Tremor

Role

alias

Name

Metaphyseal Chondrodysplasia, McKusick Type

Role

alias

Name

Meyer-Schwickerath Syndrome

Role

alias

Name

Microcephaly And Chorioretinopathy 1

Role

alias

Name

Microcephaly And Chorioretinopathy 3

Role

alias

Name

Microcephaly-hiatus Hernia-nephrotic Syndrome

Role

alias

Name

Microcephaly-intracranial Calcification-intellectual Disability Syndrome

Role

alias

Name

Miller-Dieker Lissencephaly Syndrome

Role

alias

Name

Mirror Hands And Feets-nasal Defects Syndrome

Role

alias

Name

Mirror Image Duplication of Digits

Role

alias

Name

Mirror Image Polydactyly

Role

alias

Name

Mitochondrial Dna Depletion Syndrome 12A

Role

alias

Name

Mitochondrial Dna Depletion Syndrome 12B

Role

alias

Name

Monochromacy

Role

alias

Name

Monosomy 11qter

Role

alias

Name

Monosomy 12q14

Role

alias

Name

Monosomy 14q12

Role

alias

Name

Monosomy 15q24

Role

alias

Name

Monosomy 16q24.3

Role

alias

Name

Monosomy 17p13.3

Role

alias

Name

Monosomy 17q12

Role

alias

Name

Monosomy 17q23.1q23.2

Role

alias

Name

Monosomy 1p21.3

Role

alias

Name

Monosomy 1qter

Role

alias

Name

Monosomy 20p12.3

Role

alias

Name

Monosomy 2p21

Role

alias

Name

Monosomy 3pter

Role

alias

Name

Monosomy 6q16

Role

alias

Name

Monosomy 6q25

Role

alias

Name

Monosomy 8p11.2

Role

alias

Name

Monosomy 8p23.1

Role

alias

Name

Monosomy 8q24.1

Role

alias

Name

Mps Iv A

Role

alias

Name

Mucopolysaccharidosis Iva

Role

alias

Name

Mucopolysaccharidosis, Type Iva

Role

alias

Name

Multiple Congenital Exostoses

Role

alias

Name

Multiple Enchondromatosis

Role

alias

Name

Multiple Enchondromatosis, Maffucci Type

Role

alias

Name

Multiple Exostoses

Role

alias

Name

Multiple Pituitary Hormone Deficiencies, Genetic Forms

Role

alias

Name

Muscular Dystrophies

Role

alias

Name

Muscular Dystrophy, Congenital

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Type 2A

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Type 2E

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Type 2F

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Type 2L

Role

alias

Name

Muscular Dystrophy, Limb-Girdle, Type 2S

Role

alias

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1

Role

alias

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4

Role

alias

Name

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5

Role

alias

Name

Myh-9 Related Disease

Role

alias

Name

Myh9-Related Disorders

Role

alias

Name

Myhre-Riley-Smith Syndrome

Role

alias

Name

Myofibrillar Myopathy 1

Role

alias

Name

Myofibrillar Myopathy 3

Role

alias

Name

Myopathy, Congenital

Role

alias

Name

Myopathy, Myofibrillar, 1

Role

alias

Name

Myopathy, Myofibrillar, Myotilin-Related

Role

alias

Name

Myositis, Eosinophilic

Role

alias

Name

Myotilinopathy

Role

alias

Name

Myotonia-painful Contractions Syndrome

Role

alias

Name

Myotonic Chondrodystrophy

Role

alias

Name

Myotonic Disease

Role

alias

Name

Myotonic Dystrophy 2

Role

alias

Name

Myotonic Dystrophy Type 1

Role

alias

Name

Myotonic Dystrophy Type 2

Role

alias

Name

Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies

Role

alias

Name

Mzsds

Role

alias

Name

NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS

Role

alias

Name

Role

alias

Name

NEPHROSIS-MICROCEPHALY SYNDROME

Role

alias

Name

NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME

Role

alias

Name

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2

Role

alias

Name

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3

Role

alias

Name

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4

Role

alias

Name

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6

Role

alias

Name

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9

Role

alias

Name

NIHH

Role

alias

Name

NMAN

Role

alias

Name

NPHP14

Role

alias

Name

NPS

Role

alias

Name

NPS1

Role

alias

Name

NSDAN

Role

alias

Name

NSRAN

Role

alias

Name

NSRD2

Role

alias

Name

NSRD3

Role

alias

Name

NSRD4

Role

alias

Name

NSRD6

Role

alias

Name

NSRD9

Role

alias

Name

NXD

Role

alias

Name

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Role

alias

Name

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Role

alias

Name

Norrie-Warburg Disease

Role

alias

Name

OAS

Role

alias

Name

OCA6

Role

alias

Name

OCACS

Role

alias

Name

OCULODENTOOSSEOUS DYSPLASIA

Role

alias

Name

OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE

Role

alias

Name

ODD SYNDROME

Role

alias

Name

ODDD

Role

alias

Name

ODDD Syndrome

Role

alias

Name

ODDD, AUTOSOMAL RECESSIVE

Role

alias

Name

ODED

Role

alias

Name

ODED SYNDROME

Role

alias

Name

ODOD

Role

alias

Name

ODOD, AUTOSOMAL RECESSIVE

Role

alias

Name

OFC8

Role

alias

Name

ONYCHOOSTEODYSPLASIA

Role

alias

Name

OPHTHALMOACROMELIC SYNDROME

Role

alias

Name

OPMD

Role

alias

Name

OPSMD

Role

alias

Name

OROFACIAL CLEFT 8

Role

alias

Name

OSTEODYSPLASTY OF MELNICK AND NEEDLES

Role

alias

Name

OSTEOPATHIA CONDENSANS DISSEMINATA

Role

alias

Name

OSTEOPOIKILOSIS WITH MELORHEOSTOSIS

Role

alias

Name

Ocular Albinism With Sensorineural Deafness

Role

alias

Name

Oculocutaneous Albinism

Role

alias

Name

Oculocutaneous Albinism Type Ia

Role

alias

Name

Oculocutaneous Albinism Type Ii

Role

alias

Name

Oculocutaneous Albinism, Tyrosinase-Negative

Role

alias

Name

Olfacto-genital Pathological Sequence

Role

alias

Name

Ollier Disease

Role

alias

Name

Orofaciodigital Syndrome, Shashi Type

Role

alias

Name

Osler-Rendu-Weber Disease

Role

alias

Name

Osmed, Heterozygous

Role

alias

Name

Osteochondrodysplasia

Role

alias

Name

Osteochondrodysplasia, Unspecified

Role

alias

Name

Osteopoikilosis

Role

alias

Name

Osteopoikilosis-short Stature-intellectual Disability Syndrome

Role

alias

Name

Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified

Role

alias

Name

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Role

alias

Name

PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE

Role

alias

Name

PAIS

Role

alias

Name

PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE

Role

alias

Name

PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR

Role

alias

Name

PARALYSIS PERIODICA PARAMYOTONICA

Role

alias

Name

PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY

Role

alias

Name

PASQUALINI SYNDROME

Role

alias

Name

PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS

Role

alias

Name

PCCA

Role

alias

Name

PCH2

Role

alias

Name

PCH2A

Role

alias

Name

PCH2B

Role

alias

Name

PCH2C

Role

alias

Name

PCH2D

Role

alias

Name

PCH9

Role

alias

Name

PDP

Role

alias

Name

PDP, AUTOSOMAL RECESSIVE

Role

alias

Name

PEPPER SYNDROME

Role

alias

Name

PHO, AUTOSOMAL RECESSIVE

Role

alias

Name

PHOAR1

Role

alias

Name

PHOAR2

Role

alias

Name

PHPX

Role

alias

Name

PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY

Role

alias

Name

PINGELAPESE BLINDNESS

Role

alias

Name

PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT

Role

alias

Name

PITUITARY DWARFISM III

Role

alias

Name

PITUITARY DWARFISM IV, FORMERLY

Role

alias

Name

PITUITARY HORMONE DEFICIENCY, COMBINED, WITH OR WITHOUT CEREBELLAR DEFECTS

Role

alias

Name

PJS

Role

alias

Name

PKND

Role

alias

Name

PMC

Role

alias

Name

PMGYSA

Role

alias

Name

POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC

Role

alias

Name

POLYPOSIS, HAMARTOMATOUS INTESTINAL

Role

alias

Name

PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY

Role

alias

Name

PPSH

Role

alias

Name

PSACH

Role

alias

Name

PSEUDOACHONDROPLASTIC DYSPLASIA

Role

alias

Name

PSEUDOTOXOPLASMOSIS SYNDROME

Role

alias

Name

PTHSL1

Role

alias

Name

PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES

Role

alias

Name

PYCD

Role

alias

Name

Painful Congenital Myotonia

Role

alias

Name

Painful Myotonia

Role

alias

Name

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Role

alias

Name

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Role

alias

Name

Panhypopituitarism X-Linked

Role

alias

Name

Paramyotonia Congenita

Role

alias

Name

Partial 11Q Monosomy Syndrome

Role

alias

Name

Partial Absent Skin Pigmentation

Role

alias

Name

Partial Albinism

Role

alias

Name

Partial Gigantism-nevi-hemihypertrophy-macrocephaly Syndrome

Role

alias

Name

Patterned Macular Dystrophy

Role

alias

Name

Pch8

Role

alias

Name

Peho-Like Syndrome

Role

alias

Name

Perlman Syndrome

Role

alias

Name

Pettigrew Syndrome

Role

alias

Name

Pgs

Role

alias

Name

Phocomelia, Unspecified Limb(S)

Role

alias

Name

Piebald Trait

Role

alias

Name

Pierre Robin Syndrome-hyperphalangy-clinodactyly Syndrome

Role

alias

Name

Pigment Anomaly-ectrodactyly-hypodontia Syndrome

Role

alias

Name

Pigmented Macular Degeneration

Role

alias

Name

Pituitary Dwarfism 1

Role

alias

Name

Platelet-Type Bleeding Disorder 16

Role

alias

Name

Platelet-Type Bleeding Disorder 19

Role

alias

Name

Polyps And Spots Syndrome

Role

alias

Name

Pontocerebellar Hypoplasia Type 2D

Role

alias

Name

Pontocerebellar Hypoplasia Type 7

Role

alias

Name

Pontocerebellar Hypoplasia Type 8

Role

alias

Name

Pontocerebellar Hypoplasia Type 9

Role

alias

Name

Prader-Willi-like Syndrome Due To Deletion 6q16

Role

alias

Name

Primary Hypertrophic Osteoarthropathy

Role

alias

Name

Primary Thrombocytopenia

Role

alias

Name

Progressive Cone Degeneration

Role

alias

Name

Propping Zerres Syndrome

Role

alias

Name

Proximal 11p Deletion Syndrome

Role

alias

Name

Proximal Del(16)(p11.2)

Role

alias

Name

Proximal Monosomy 16p11.2

Role

alias

Name

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Role

alias

Name

Pseudomyotonia

Role

alias

Name

Ptosis of Eyelids With Diastasis Recti And Hip Dysplasia

Role

alias

Name

Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related

Role

alias

Name

Pulmonic Stenosis-brachytelephalangism-calcification Of Cartilages Syndrome

Role

alias

Name

Pure Joubert Syndrome

Role

alias

Name

Pyknodysostosis

Role

alias

Name

RCD3A

Role

alias

Name

RCD3B

Role

alias

Name

RCD4

Role

alias

Name

REAR SYNDROME

Role

alias

Name

RED COLORBLINDNESS

Role

alias

Name

RENS1

Role

alias

Name

RETINITIS PIGMENTOSA 15

Role

alias

Name

RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED

Role

alias

Name

RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED

Role

alias

Name

RETINITIS PIGMENTOSA, RHODOPSIN-RELATED

Role

alias

Name

RETINITIS PUNCTATA ALBESCENS

Role

alias

Name

RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT

Role

alias

Name

RHS

Role

alias

Name

RIB GAP DEFECTS WITH MICROGNATHIA

Role

alias

Name

RILEY-SMITH SYNDROME

Role

alias

Name

RIPPLING MUSCLE DISEASE 2

Role

alias

Name

RMCH1, FORMERLY

Role

alias

Name

RMCH2

Role

alias

Name

RMD

Role

alias

Name

RMD2

Role

alias

Name

RMSS

Role

alias

Name

ROD MONOCHROMACY 1, FORMERLY

Role

alias

Name

ROD MONOCHROMACY 2

Role

alias

Name

ROD MONOCHROMATISM 1, FORMERLY

Role

alias

Name

ROD MONOCHROMATISM 2

Role

alias

Name

RP1

Role

alias

Name

RP10

Role

alias

Name

RP11

Role

alias

Name

RP13

Role

alias

Name

RP14

Role

alias

Name

RP15

Role

alias

Name

RP17

Role

alias

Name

RP18

Role

alias

Name

RP19

Role

alias

Name

RP20

Role

alias

Name

RP25

Role

alias

Name

RP26

Role

alias

Name

RP27

Role

alias

Name

RP28

Role

alias

Name

RP3

Role

alias

Name

RP30

Role

alias

Name

RP31

Role

alias

Name

RP35

Role

alias

Name

RP36

Role

alias

Name

RP4

Role

alias

Name

RP42

Role

alias

Name

RP43

Role

alias

Name

RP44

Role

alias

Name

RP45

Role

alias

Name

RP46

Role

alias

Name

RP47

Role

alias

Name

RP48

Role

alias

Name

RP49

Role

alias

Name

RP51

Role

alias

Name

RP53

Role

alias

Name

RP54

Role

alias

Name

RP55

Role

alias

Name

RP56

Role

alias

Name

RP57

Role

alias

Name

RP58

Role

alias

Name

RP59

Role

alias

Name

RP60

Role

alias

Name

RP61

Role

alias

Name

RP62

Role

alias

Name

RP64

Role

alias

Name

RP65

Role

alias

Name

RP66

Role

alias

Name

RP67

Role

alias

Name

RP68

Role

alias

Name

RP69

Role

alias

Name

RP7

Role

alias

Name

RP70

Role

alias

Name

RP71

Role

alias

Name

RP72

Role

alias

Name

RP73

Role

alias

Name

RP74

Role

alias

Name

RP9

Role

alias

Name

RSTS1

Role

alias

Name

RSTS2

Role

alias

Name

RTSC1

Role

alias

Name

RTSC2

Role

alias

Name

RUBINSTEIN SYNDROME

Role

alias

Name

RUSAT2

Role

alias

Name

RUVALCABA-MYHRE-SMITH SYNDROME

Role

alias

Name

Red Color Blindness

Role

alias

Name

Red Green Color Blindness

Role

alias

Name

Red-Blind

Role

alias

Name

Red-Green Dyschromatopsia

Role

alias

Name

Red-Weak

Role

alias

Name

Reginato-Schiapachasse Syndrome

Role

alias

Name

Renal Dysplasia And Retinal Aplasia

Role

alias

Name

Renal-ear-anal-radial Syndrome

Role

alias

Name

Renpenning Syndrome

Role

alias

Name

Retinal Degeneration, Autosomal Recessive, Prominin-Related

Role

alias

Name

Retinal Dystrophy, Early-Onset Severe

Role

alias

Name

Retinitis Pigmentosa 12

Role

alias

Name

Retinitis Pigmentosa 2

Role

alias

Name

Retinitis Pigmentosa 22

Role

alias

Name

Retinitis Pigmentosa 23

Role

alias

Name

Retinitis Pigmentosa 24

Role

alias

Name

Retinitis Pigmentosa 29

Role

alias

Name

Retinitis Pigmentosa 32

Role

alias

Name

Retinitis Pigmentosa 33

Role

alias

Name

Retinitis Pigmentosa 34

Role

alias

Name

Retinitis Pigmentosa 37

Role

alias

Name

Retinitis Pigmentosa 38

Role

alias

Name

Retinitis Pigmentosa 39

Role

alias

Name

Retinitis Pigmentosa 40

Role

alias

Name

Retinitis Pigmentosa 41

Role

alias

Name

Retinitis Pigmentosa 50

Role

alias

Name

Retinitis Pigmentosa 6

Role

alias

Name

Retinitis Pigmentosa Y-Linked

Role

alias

Name

Retinitis Pigmentosa, Concentric

Role

alias

Name

Retinitis Pigmentosa-Deafness Syndrome

Role

alias

Name

Retinotapetal Degeneration

Role

alias

Name

Rippling Muscle Disease, 1

Role

alias

Name

Ritscher-Schinzel Syndrome

Role

alias

Name

Rod-Cone Dystrophy, Childhood-Onset

Role

alias

Name

Rp2

Role

alias

Name

Rp29

Role

alias

Name

Rudiger Syndrome

Role

alias

Name

Rusat

Role

alias

Name

S-Cone Monochromacy

Role

alias

Name

SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION

Role

alias

Name

SANDROW SYNDROME

Role

alias

Name

SBH

Role

alias

Name

SBS

Role

alias

Name

SC5D DEFICIENCY

Role

alias

Name

SCAPULOPERONEAL MYOPATHY, FHL1-RELATED

Role

alias

Name

SCAR5, FORMERLY

Role

alias

Name

SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME

Role

alias

Name

SCHWARTZ-JAMPEL-ABERFELD SYNDROME

Role

alias

Name

SCLH

Role

alias

Name

SCRA1

Role

alias

Name

SDAM

Role

alias

Name

SEBASTIAN PLATELET SYNDROME

Role

alias

Name

SEDAGHATIAN CHONDRODYSPLASIA

Role

alias

Name

SEN SYNDROME

Role

alias

Name

SENS

Role

alias

Name

SEX REVERSAL, XY, CBX2-RELATED

Role

alias

Name

SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE

Role

alias

Name

SEX-REVERSING LOCUS ON X, FORMERLY

Role

alias

Name

SHASHI X-LINKED MENTAL RETARDATION SYNDROME

Role

alias

Name

SHEP4

Role

alias

Name

SHFLD Syndrome

Role

alias

Name

SHORT RIB-POLYDACTYLY SYNDROME, TYPE V

Role

alias

Name

SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI

Role

alias

Name

SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA

Role

alias

Name

SHS

Role

alias

Name

SJA SYNDROME

Role

alias

Name

SJS

Role

alias

Name

SJS1

Role

alias

Name

SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN

Role

alias

Name

SLSN4

Role

alias

Name

SLSN5

Role

alias

Name

SLSN6

Role

alias

Name

SLSN7

Role

alias

Name

SLSN8

Role

alias

Name

SMD, KOZLOWSKI TYPE

Role

alias

Name

SMDK

Role

alias

Name

SMDS

Role

alias

Name

SMRXS

Role

alias

Name

SNEL

Role

alias

Name

SODIUM CHANNEL MUSCLE DISEASE

Role

alias

Name

SOS

Role

alias

Name

SOST

Role

alias

Name

SOST1

Role

alias

Name

SOST2

Role

alias

Name

SOTOS1

Role

alias

Name

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY

Role

alias

Name

SPM

Role

alias

Name

SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC

Role

alias

Name

SRPS5

Role

alias

Name

SRPS6

Role

alias

Name

SRTD10

Role

alias

Name

SRTD11

Role

alias

Name

SRTD13

Role

alias

Name

SRTD14

Role

alias

Name

SRTD4

Role

alias

Name

SRTD5

Role

alias

Name

SRTD7

Role

alias

Name

SRTD8

Role

alias

Name

SRVX, FORMERLY

Role

alias

Name

SRXY1

Role

alias

Name

SRXY3

Role

alias

Name

SRXY5

Role

alias

Name

SRXY6

Role

alias

Name

SRXY9

Role

alias

Name

ST. HELENA DYSPLASIA

Role

alias

Name

STICKLER SYNDROME, ATYPICAL

Role

alias

Name

STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR

Role

alias

Name

STL5

Role

alias

Name

SUBCORTICAL LAMINAR HETEROTOPIA

Role

alias

Name

SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED

Role

alias

Name

SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME

Role

alias

Name

SWS

Role

alias

Name

Scalp Defect, Congenital

Role

alias

Name

Scalp Ear Nipple Syndrome

Role

alias

Name

Scapulohumeral Muscular Dystrophy

Role

alias

Name

Schinzel Acrocallosal Syndrome

Role

alias

Name

Schwartz-Jampel Syndrome 1

Role

alias

Name

Schwartz-Jampel Syndrome Type 1

Role

alias

Name

Sclerosis of Bones of Skull

Role

alias

Name

Sclerosis of Skull

Role

alias

Name

Secondary Hypertrophic Osteoarthropathy

Role

alias

Name

Sengers Syndrome

Role

alias

Name

Sensenbrenner Syndrome

Role

alias

Name

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Role

alias

Name

Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type

Role

alias

Name

Short Index Fingers And Second Toes

Role

alias

Name

Short Penis

Role

alias

Name

Short Rib Syndrome

Role

alias

Name

Short Rib-Polydactyly Syndrome, Type Iii

Role

alias

Name

Short Rib-polydactyly Syndrome Type 3

Role

alias

Name

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Role

alias

Name

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Role

alias

Name

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Role

alias

Name

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Role

alias

Name

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Role

alias

Name

Skeletal Dysplasia

Role

alias

Name

Small Penis

Role

alias

Name

Snyder Robinson Syndrome

Role

alias

Name

Sost-Related Sclerosing Bone Dysplasia

Role

alias

Name

Sotos Syndrome 2

Role

alias

Name

Spinal And Bulbar Muscular Atrophy

Role

alias

Name

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

Role

alias

Name

Split Hand/foot Malformation With Long Bone Deficiency

Role

alias

Name

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Role

alias

Name

Split-Hand/Foot Malformation With Long Bone Deficiency 1

Role

alias

Name

Split-hand/foot Malformation Associated With Aplasia Of Long Bones

Role

alias

Name

Spondyloepiphyseal Dysplasia Tarda

Role

alias

Name

Spondylometaphyseal Dysplasia, Corner Fracture Type

Role

alias

Name

Spondylometaphyseal Dysplasia, Sutcliffe Type

Role

alias

Name

Sponge Kidney, Medullary

Role

alias

Name

Srs

Role

alias

Name

Stargardt Disease 1

Role

alias

Name

Steinert Disease

Role

alias

Name

Steroid 5-alpha-reductase Deficiency

Role

alias

Name

Sterol C5-desaturase Deficiency

Role

alias

Name

Stickler Syndrome

Role

alias

Name

Stickler Syndrome, Beaded Vitreous Type

Role

alias

Name

Stickler Syndrome, Type 2

Role

alias

Name

Stickler Syndrome, Type I

Role

alias

Name

Stromme Syndrome

Role

alias

Name

Sturge-Weber-Dimitri Syndrome

Role

alias

Name

Sturge-Weber-Krabbe Angiomatosis

Role

alias

Name

Sturge-Weber-Krabbe Syndrome

Role

alias

Name

Sympodia

Role

alias

Name

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

Role

alias

Name

Syndrome, Miller-Dieker

Role

alias

Name

Syndrome, Smith-Magenis

Role

alias

Name

Syndrome, Sotos'

Role

alias

Name

Syndromic X-Linked Intellectual Disability 12

Role

alias

Name

Syndromic X-Linked Intellectual Disability 14

Role

alias

Name

Syndromic X-Linked Intellectual Disability 5

Role

alias

Name

Syndromic X-Linked Intellectual Disability Cabezas Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Najm Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Nascimento Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Raymond Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Shashi Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Shrimpton Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Siderius Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Snyder Type

Role

alias

Name

Syndromic X-Linked Intellectual Disability Turner Type

Role

alias

Name

Syngnathia

Role

alias

Name

TACHD

Role

alias

Name

TAR

Role

alias

Name

TAR Syndrome

Role

alias

Name

TARDIVE TIBIAL MUSCULAR DYSTROPHY

Role

alias

Name

TBS

Role

alias

Name

TDFX, FORMERLY

Role

alias

Name

TEMTYS

Role

alias

Name

TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY

Role

alias

Name

TETAMS

Role

alias

Name

TETRAMELIC MIRROR-IMAGE POLYDACTYLY

Role

alias

Name

TH-SHFM

Role

alias

Name

THD

Role

alias

Name

THOMSEN DISEASE

Role

alias

Name

TMD

Role

alias

Name

TMIP

Role

alias

Name

TOTAL COLORBLINDNESS WITH MYOPIA

Role

alias

Name

TOURAINE-SOLENTE-GOLE SYNDROME

Role

alias

Name

Tapetoretinal Degeneration

Role

alias

Name

Tdd

Role

alias

Name

Telangiectasia, Hereditary Hemorrhagic

Role

alias

Name

Telangiectasia, Hereditary Hemorrhagic, Type 2

Role

alias

Name

Telomeric Deletion 11q

Role

alias

Name

Telomeric Deletion 17p

Role

alias

Name

Telomeric Deletion 1q

Role

alias

Name

Telomeric Monosomy 3p

Role

alias

Name

Temtamy-Shalash Syndrome

Role

alias

Name

Tetraamelia Syndrome 1

Role

alias

Name

Thoracic Aortic Aneurysm

Role

alias

Name

Thrombocytopenia, Paris-Trousseau Type

Role

alias

Name

Tibi

Role

alias

Name

Tibial Hemimelia With Split Hand/foot Malformation

Role

alias

Name

Total Colonic Aganglionosis

Role

alias

Name

Total Colorblindness

Role

alias

Name

Trichorhinophalangeal Syndrome Type 2

Role

alias

Name

Trichorhinophalangeal Syndrome Type Ii

Role

alias

Name

Trichorhinophalangeal Syndrome, Type Ii

Role

alias

Name

Tritanomaly

Role

alias

Name

Tritanopia

Role

alias

Name

Turner-Kieser Syndrome

Role

alias

Name

Type 1 Lissencephaly

Role

alias

Name

Type A2 Brachydactyly

Role

alias

Name

Type E Brachydactyly

Role

alias

Name

Type I Lissencephaly

Role

alias

Name

UDD MYOPATHY

Role

alias

Name

USH1

Role

alias

Name

USH1C

Role

alias

Name

USH1D

Role

alias

Name

USH1F

Role

alias

Name

USH1G

Role

alias

Name

USH1J

Role

alias

Name

USH2A

Role

alias

Name

USH2B, FORMERLY

Role

alias

Name

USH2C

Role

alias

Name

USH3B

Role

alias

Name

USHER SYNDROME, TYPE I, ACADIAN VARIETY

Role

alias

Name

USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC

Role

alias

Name

Usher Syndrome Type 1C

Role

alias

Name

Usher Syndrome Type 1D

Role

alias

Name

Usher Syndrome Type 1E

Role

alias

Name

Usher Syndrome Type 1F

Role

alias

Name

Usher Syndrome Type 1G

Role

alias

Name

Usher Syndrome Type 1H

Role

alias

Name

Usher Syndrome Type 1J

Role

alias

Name

Usher Syndrome Type 1K

Role

alias

Name

Usher Syndrome Type 2A

Role

alias

Name

Usher Syndrome Type 2C

Role

alias

Name

Usher Syndrome Type 2D

Role

alias

Name

Usher Syndrome Type 3A

Role

alias

Name

Usher Syndrome Type 3B

Role

alias

Name

Usher Syndrome, Type Ib

Role

alias

Name

Usher Syndrome, Type Iid

Role

alias

Name

Usher Syndrome, Type Iiia

Role

alias

Name

Usher Syndromes

Role

alias

Name

VACTERL-H

Role

alias

Name

VBCH

Role

alias

Name

VBCH2

Role

alias

Name

VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS

Role

alias

Name

VMD4

Role

alias

Name

VMD5

Role

alias

Name

VOLENDAM NEURODEGENERATIVE DISEASE

Role

alias

Name

Vacterl Association

Role

alias

Name

Vitelliform Macular Dystrophy, Adult-Onset

Role

alias

Name

Vitelliform Macular Dystrophy, Atypical

Role

alias

Name

Vitelliform Macular Dystrophy, Juvenile-Onset

Role

alias

Name

Vitelliform Macular Lesions

Role

alias

Name

WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C

Role

alias

Name

WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE

Role

alias

Name

WAARDENBURG SYNDROME, TYPE IVB

Role

alias

Name

WAARDENBURG SYNDROME, TYPE IVC

Role

alias

Name

WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED

Role

alias

Name

WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED

Role

alias

Name

WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED

Role

alias

Name

WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED

Role

alias

Name

WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED

Role

alias

Name

WBS

Role

alias

Name

WDM

Role

alias

Name

WEAVER-SMITH SYNDROME

Role

alias

Name

WHIRLER, MOUSE, HOMOLOG OF

Role

alias

Name

WIEDEMANN-BECKWITH SYNDROME

Role

alias

Name

WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES

Role

alias

Name

WS4B

Role

alias

Name

WS4C

Role

alias

Name

WSS

Role

alias

Name

WVS

Role

alias

Name

Waardenburg Syndrome Type 2D

Role

alias

Name

Waardenburg Syndrome Type 2E

Role

alias

Name

Waardenburg Syndrome Type 3

Role

alias

Name

Waardenburg Syndrome Type 4B

Role

alias

Name

Waardenburg Syndrome, Type 2D

Role

alias

Name

Waardenburg Syndrome, Type 2E

Role

alias

Name

Waardenburg Syndrome, Type 3

Role

alias

Name

Waardenburg'S Syndrome

Role

alias

Name

Walker-Warburg Syndrome

Role

alias

Name

Widened Vestibular Aqueduct

Role

alias

Name

Wildervanck Syndrome

Role

alias

Name

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Role

alias

Name

Winkelman Bethge Pfeiffer Syndrome

Role

alias

Name

Worth'S Syndrome

Role

alias

Name

X-Linked Emery-Dreifuss Muscular Dystrophy 1

Role

alias

Name

X-Linked Mental Retardation Snyder - Robinson Type

Role

alias

Name

X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

Role

alias

Name

X-Linked Nonsyndromic Deafness

Role

alias

Name

X-linked Angelman-like Syndrome

Role

alias

Name

X-linked Dominant Chondrodysplasia-hydrocephaly-microphthalmia Syndrome

Role

alias

Name

X-linked Intellectual Disability, South African Type

Role

alias

Name

X-linked Intellectual Disability-craniofacial Dysmorphism-epilepsy-ophthalmoplegia-cerebellar Atrophy Syndrome

Role

alias

Name

X-linked Intellectual Disability-microcephaly-pontocerebellar Hypoplasia Syndrome

Role

alias

Name

X-linked Lissencephaly Type 1

Role

alias

Name

X-linked Lissencephaly With Ambiguous Genitalia

Role

alias

Name

X-linked Lissencephaly-corpus Callosum Agenesis-genital Anomalies Syndrome

Role

alias

Name

XHM-ED

Role

alias

Name

XLAG

Role

alias

Name

XLAG (X-linked Lissencephaly With Abnormal Genitalia) Syndrome

Role

alias

Name

XLIS

Role

alias

Name

XLISG

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0000026HP:0000037HP:0000044HP:0000054HP:0000090HP:0000135HP:0000510HP:0000547HP:0000548HP:0000551HP:0000552HP:0000608HP:0000642HP:0000815HP:0000839HP:0000871HP:0000968HP:0001022HP:0001057HP:0001302HP:0001339HP:0002251HP:0002324HP:0002335HP:0002652HP:0002654HP:0002655HP:0002762HP:0002858HP:0003560HP:0003741HP:0004330HP:0005701HP:0005863HP:0006785HP:0006818HP:0007227HP:0007443HP:0007476HP:0007529HP:0007544HP:0007607HP:0007677HP:0007803HP:0007939HP:0008020HP:0008166HP:0008619HP:0008659HP:0008668HP:0008970HP:0009054HP:0009372HP:0009796HP:0009827HP:0009829HP:0009921HP:0010305HP:0010497HP:0010689HP:0010739HP:0011286HP:0011387HP:0011520HP:0011521HP:0011522HP:0012727HP:0030635HP:0030642HP:0031882HP:0040075HP:0100009HP:0100010HP:0100842HP:0200018HP:0200146HP:0500009

Herb

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

Me Sh

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

Omim

1023701032851034701058301058351062601074801076001083001126001133001136001136201136501137501141001151501175501176501195501199001209701228601230001231501249001266001267001294001294901295001306501329001337001337011357501361401368801372001429001461101479501488201502301534801537001542301547001551001583501590501601201605001608001609001612001642001642801643001660001667001671001683001691001728001731001752001764501769201771701800201801001801041801051808491812701813501822301822901842521842551848401853001873001878001909001923501933001935001940722012502026502031002032002040002041002069202099002111802121122123502127202127802133002139802144502145002148002163602165502169002170802170852183002183302183402184002202102202902206002217502224482243002249002255002257502283002298502305002306002306502334202345002366702391002410802411002436052438002442002451502458002472002482002502202502502504602512602512702512902513002514502530002530102532802536002536012537002538002541102553002557002558002578502579202584802591002605652623002624002626002627002635202646002650502658002669002669202670002680002686502695002733952740002769002769012769022769042769502774702775903000183000293000673000683000733000853002153002433002633002913003543004243004723004863004913005343006763006953007063007073007493007993008603008813009633009903010063019003023803029053037003038003039003040303041003043403045003051003072003082053087003093503095003095203095833103003106003120003123003126003132003134003146004000445000046600001600059600060600101600105600110600132600138600145600151600316600334600348600373600376600416600652600791600852600965600971600974600994601067601071601072601214601287601316601317601369601386601414601419601543601544601718601868601869601954602083602092602459602668602772602875603010603387603511603622603629603720603786603964604116604168604232604286604292604356604393604454604537604717604841605192605231605249605428605432605472605583605822606068606072606170606346606705606943606996607039607080607084607101607155607197607323607330607432607453607624607636607778607801607821607841607921608022608091608099608133608161608194608224608265608355608380608390608423608553608565608612608629608641608653608807608890608940609006609129609192609200609227609254609308609439609441609460609508609533609646609706609823609923610024610031610042610153610154610168610181610189610212610220610265610282610283610329610333610356610359610419610478610599610612610628610685610688610713610896611022611131611263611307611383611451611560611584611588611603611755611788612095612109612285612291612313612370612389612390612431612474612572612576612643612644612645612651612657612702612716127126127816129186129436129526129656130386130746130796130806130916130936131126131506131546131576131586131946132656132666132856133076133196133416133556133916134286134536134646135756135816135826136106136156136176136606136846137126137186137236137316137506137566137586137626137676137696137806137946138016138096138106138116138186138196138266138276138296138356138376138436138616138626138656139166139306139836139866140196140356140396140916140996141526141806141816141866142196142796142846143056143266143766143786144246144416144576144646144656145006145046145696146146146176147536148146148376148386148396148406148416148426148446148586148616148696148976148996149346149416149446149456149616149696156150106150726151066151086151096151816151916152336152666152676152696152706152716152786152796152806152976153526153566153606154186154296154346154366155036155066155406155426155656156296156306156336156366157256157776157806158096158376158466159226159376159386159746159816159826159836159846159856159866159876159886159896159906159916159926159936159946159956159966160286160306160426160446160526160676161456161516161526161666161766163006163076163356163406163576163946164256164626164696164716165026165156165176165446165466165626165896166546166976167056167076167386167816168616849616968616969617023617041617072617088617102617121617168617169617184617304617406617466617507617622617729617730617731618160

Umls

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

Icd10

D32D32.9D69.4E23.0E34.5E34.50E34.52E70.3E70.32E70.329E72.0E75.19E76.211G31.8G71.0G71.1G71.12G71.19H35.5H35.52H50.8H53.5H90.3I78.0K59.3K59.39L62.0M85.2M85.8M89.4Q04.3Q04.4Q04.8Q18.8Q43.1Q56.1Q61.5Q73.0Q73.1Q73.8Q77.2Q77.6Q77.8Q78.4Q78.6Q78.8Q78.9Q82.4Q84.8Q85.8Q87.2Q87.3Q87.4Q87.40Q87.5Q87.8Q87.89Q93.5

Med Dra

10000029100004541000841510008724100105391001379910014642100191651001946310019883100286551003366210034764100389141004226510043461100477161004906610049644100504691005063810051452100516861005190610052181100523121005366510054842100567101005765310059117100593871006276610062804100629431006343110063691100640631006408710064387100660171006602210067159100673801006785710068361100687831006959610069760100706671007113510071719

Sym Map

SMDE00013SMDE00014SMDE00028SMDE00033SMDE00039SMDE00040SMDE00055SMDE00061SMDE00062SMDE00078SMDE00084SMDE00090SMDE00101SMDE00102SMDE00133SMDE00141SMDE00144SMDE00156SMDE00159SMDE00162SMDE00170SMDE00179SMDE00184SMDE00187SMDE00195SMDE00199SMDE00203SMDE00205SMDE00206SMDE00211SMDE00215SMDE00219SMDE00220SMDE00224SMDE00233SMDE00237SMDE00243SMDE00245SMDE00260SMDE00261SMDE00265SMDE00271SMDE00272SMDE00279SMDE00287SMDE00288SMDE00290SMDE00303SMDE00313SMDE00314SMDE00319SMDE00321SMDE00323SMDE00325SMDE00329SMDE00332SMDE00335SMDE00345SMDE00349SMDE00350SMDE00359SMDE00360SMDE00365SMDE00369SMDE00370SMDE00382SMDE00391SMDE00393SMDE00398SMDE00401SMDE00411SMDE00424SMDE00434SMDE00454SMDE00456SMDE00459SMDE00475SMDE00481SMDE00489SMDE00495SMDE00496SMDE00497SMDE00499SMDE00505SMDE00511SMDE00517SMDE00521SMDE00528SMDE00535SMDE00537SMDE00543SMDE00555SMDE00558SMDE00573SMDE00579SMDE00584SMDE00590SMDE00599SMDE00601SMDE00606SMDE00614SMDE00625SMDE00629SMDE00631SMDE00638SMDE00645SMDE00647SMDE00653SMDE00657SMDE00666SMDE00669SMDE00674SMDE00675SMDE00688SMDE00692SMDE00696SMDE00709SMDE00726SMDE00731SMDE00734SMDE00743SMDE00751SMDE00754SMDE00761SMDE00767SMDE00783SMDE00785SMDE00789SMDE00798SMDE00818SMDE00821SMDE00822SMDE00829SMDE00834SMDE00844SMDE00853SMDE00858SMDE00859SMDE00865SMDE00876SMDE00879SMDE00884SMDE00889SMDE00898SMDE00906SMDE00907SMDE00915SMDE00916SMDE00922SMDE00925SMDE00926SMDE00928SMDE00938SMDE00950SMDE00963SMDE00966SMDE00969SMDE00975SMDE00979SMDE00982SMDE00992SMDE00993SMDE01003SMDE01004SMDE01006SMDE01012SMDE01023SMDE01024SMDE01025SMDE01042SMDE01051SMDE01064SMDE01067SMDE01070SMDE01077SMDE01087SMDE01094SMDE01097SMDE01117SMDE01119SMDE01132SMDE01151SMDE01155SMDE01162SMDE01176SMDE01189SMDE01190SMDE01195SMDE01196SMDE01202SMDE01220SMDE01228SMDE01230SMDE01239SMDE01254SMDE01258SMDE01272SMDE01277SMDE01287SMDE01294SMDE01300SMDE01314SMDE01328SMDE01336SMDE01340SMDE01344SMDE01346SMDE01356SMDE01367SMDE01369SMDE01370SMDE01372SMDE01373SMDE01392SMDE01399SMDE01403SMDE01411SMDE01419SMDE01428SMDE01435SMDE01448SMDE01451SMDE01471SMDE01472SMDE01485SMDE01486SMDE01510SMDE01514SMDE01517SMDE01522SMDE01524SMDE01528SMDE01552SMDE01556SMDE01561SMDE01566SMDE01591SMDE01608SMDE01609SMDE01610SMDE01611SMDE01628SMDE01632SMDE01635SMDE01640SMDE01644SMDE01645SMDE01648SMDE01676SMDE01682SMDE01699SMDE01704SMDE01727SMDE01736SMDE01737SMDE01752SMDE01764SMDE01769SMDE01774SMDE01776SMDE01779SMDE01787SMDE01795SMDE01796SMDE01805SMDE01807SMDE01813SMDE01821SMDE01829SMDE01840SMDE01843SMDE01867SMDE01875SMDE01877SMDE01881SMDE01895SMDE01915SMDE01917SMDE01927SMDE01930SMDE01941SMDE01951SMDE01954SMDE01966SMDE01992SMDE01993SMDE02003SMDE02006SMDE02008SMDE02023SMDE02026SMDE02029SMDE02039SMDE02047SMDE02052SMDE02053SMDE02056SMDE02057SMDE02064SMDE02069SMDE02081SMDE02082SMDE02086SMDE02090SMDE02095SMDE02099SMDE02106SMDE02108SMDE02111SMDE02122SMDE02123SMDE02124SMDE02128SMDE02130SMDE02146SMDE02161SMDE02167SMDE02169SMDE02176SMDE02194SMDE02212SMDE02213SMDE02217SMDE02220SMDE02238SMDE02243SMDE02247SMDE02251SMDE02257SMDE02265SMDE02271SMDE02272SMDE02278SMDE02291SMDE02292SMDE02294SMDE02301SMDE02317SMDE02319SMDE02331SMDE02356SMDE02381SMDE02389SMDE02392SMDE02393SMDE02401SMDE02409SMDE02415SMDE02419SMDE02421SMDE02422SMDE02428SMDE02446SMDE02462SMDE02468SMDE02476SMDE02477SMDE02485SMDE02495SMDE02503SMDE02516SMDE02518SMDE02530SMDE02539SMDE02540SMDE02541SMDE02567SMDE02574SMDE02580SMDE02583SMDE02588SMDE02597SMDE02600SMDE02601SMDE02605SMDE02612SMDE02615SMDE02621SMDE02622SMDE02630SMDE02631SMDE02632SMDE02633SMDE02639SMDE02650SMDE02652SMDE02656SMDE02658SMDE02668SMDE02673SMDE02675SMDE02682SMDE02689SMDE02700SMDE02708SMDE02713SMDE02716SMDE02726SMDE02731SMDE02749SMDE02750SMDE02757SMDE02767SMDE02785SMDE02793SMDE02795SMDE02805SMDE02816SMDE02821SMDE02827SMDE02841SMDE02855SMDE02860SMDE02863SMDE02869SMDE02873SMDE02880SMDE02888SMDE02889SMDE02896SMDE02900SMDE02903SMDE02912SMDE02913SMDE02915SMDE02916SMDE02930SMDE02932SMDE02935SMDE02943SMDE02948SMDE02949SMDE02960SMDE02966SMDE02977SMDE02978SMDE02981SMDE02988SMDE02991SMDE03014SMDE03018SMDE03031SMDE03036SMDE03046SMDE03053SMDE03061SMDE03063SMDE03074SMDE03079SMDE03090SMDE03101SMDE03137SMDE03153SMDE03154SMDE03158SMDE03159SMDE03176SMDE03186SMDE03187SMDE03190SMDE03191SMDE03194SMDE03202SMDE03222SMDE03232SMDE03233SMDE03239SMDE03246SMDE03247SMDE03248SMDE03256SMDE03261SMDE03265SMDE03268SMDE03280SMDE03281SMDE03287SMDE03301SMDE03303SMDE03312SMDE03327SMDE03342SMDE03355SMDE03357SMDE03359SMDE03364SMDE03365SMDE03368SMDE03370SMDE03403SMDE03421SMDE03422SMDE03423SMDE03428SMDE03435SMDE03437SMDE03441SMDE03446SMDE03447SMDE03450SMDE03455SMDE03465SMDE03468SMDE03472SMDE03476SMDE03482SMDE03485SMDE03486SMDE03490SMDE03492SMDE03498SMDE03499SMDE03501SMDE03502SMDE03505SMDE03515SMDE03519SMDE03527SMDE03534SMDE03538SMDE03549SMDE03551SMDE03556SMDE03561SMDE03562SMDE03564SMDE03582SMDE03587SMDE03593SMDE03597SMDE03605SMDE03622SMDE03635SMDE03641SMDE03648SMDE03653SMDE03659SMDE03670SMDE03671SMDE03686SMDE03706SMDE03708SMDE03710SMDE03737SMDE03738SMDE03748SMDE03750SMDE03757SMDE03764SMDE03768SMDE03777SMDE03792SMDE03819SMDE03825SMDE03829SMDE0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Do Class

DOID:0014667DOID:0080015DOID:14566DOID:150DOID:225DOID:630DOID:7

Dis Ge Net

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Orphanet

10011071071109110110611141200122912341243127127012751276129713001306130813381340136913763413783113813871388139313941394661409081409521425145414581493149715131515151715221525154015521555158716160616171620163634163690163693163937163966166100166119167168558168563171829175177717821783331811871187218731878187918961897193199318201203620442059206520672098211621172128214321482172662204932204972228222922372255228384228402230823116923117823118323139323152318233237723782383292402422473248250825098425101925105625106625107125151025182611442611902611972612261222261250261265261279261295261330261426352639264200269270271027122717272273274627962836285028692879288428929384329394829629693027304230713103315231563157320532063213301332033293416342173447346435253035272335664363636737009737094337337738839240432435938436174452460594662747447547848431486524938250250945515202252055531545885960030600406036066106146344263446646476496565285666296663769087771289726744750753758577637729877301774776790947917910779431794327943379434794357947679477794788008198218278347385185164851668516785194851988520185202852778527885279852848528785293852948532885335857868188878928938948958968979015390154903079030890490653906549069590797913879219327193314933159331693317933289333393383933849338793388933969340994063940649406595494959968969972972979749789889599099000994997349973599736

Umls Sty

T019T033T046T047T049T191

Hpo Class

HP:0000119HP:0000152HP:0000478HP:0000598HP:0000707HP:0000818HP:0000924HP:0001507HP:0001574HP:0001626HP:0001939HP:0002664HP:0003011HP:0025031HP:0040064

Me Sh Class

C04C05C06C07C08C09C10C11C12C13C14C15C16C17C18C19C20C23C26F01F03

Etcm Disease

12q14 Microdeletion Syndrome1p21.3 Microdeletion Syndrome3mc Syndrome46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy46,xy Partial Gonadal Dysgenesis46,xy Sex Reversal 146,xy Sex Reversal 346,xy Sex Reversal 446,xy Sex Reversal 546,xy Sex Reversal 646,xy Sex Reversal 9Abruzzo-Erickson SyndromeAchromatopsiaAchromatopsia 2Achromatopsia 3Achromatopsia 7Acrocallosal SyndromeAcrocapitofemoral DysplasiaAcrofacial Dysostosis, Cincinnati TypeAcromesomelic Dysplasia, Hunter-Thompson TypeAcromesomelic Dysplasia, Maroteaux TypeAcromicric DysplasiaAdams-Oliver SyndromeAdams-Oliver Syndrome 1Adams-Oliver Syndrome 2Adams-Oliver Syndrome 3Adams-Oliver Syndrome 4Adams-Oliver Syndrome 5Adams-Oliver Syndrome 6Adult SyndromeAgnathia-Otocephaly ComplexAicardi-Goutieres SyndromeAicardi-Goutieres Syndrome 1Aicardi-Goutieres Syndrome 2Aicardi-Goutieres Syndrome 3Aicardi-Goutieres Syndrome 4Aicardi-Goutieres Syndrome 6Aicardi-Goutieres Syndrome 7Albinism, Oculocutaneous, Type ViAllan-Herndon-Dudley SyndromeAlopecia-Intellectual Disability SyndromeAlopecia-Mental Retardation Syndrome 1Alopecia-Mental Retardation Syndrome 2Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis SyndromeAndrogen Insensitivity SyndromeAndrogen Insensitivity, PartialAngel-Shaped Phalangoepiphyseal DysplasiaAngelman SyndromeAortic Aneurysm, Familial Thoracic 10Aortic Aneurysm, Familial Thoracic 4Aortic Aneurysm, Familial Thoracic 6Aortic Aneurysm, Familial Thoracic 7Aortic Aneurysm, Familial Thoracic 8Aortic Aneurysm, Familial Thoracic 9Auditory Neuropathy, Autosomal Dominant, 1Autosomal Recessive Chorioretinopathy-Microcephaly SyndromeAutosomal Recessive Stickler SyndromeBand HeterotopiaBardet-Biedl SyndromeBardet-Biedl Syndrome 10Bardet-Biedl Syndrome 11Bardet-Biedl Syndrome 12Bardet-Biedl Syndrome 13Bardet-Biedl Syndrome 15Bardet-Biedl Syndrome 16Bardet-Biedl Syndrome 17Bardet-Biedl Syndrome 18Bardet-Biedl Syndrome 19Bardet-Biedl Syndrome 21Bardet-Biedl Syndrome 3Bardet-Biedl Syndrome 5Bardet-Biedl Syndrome 6Bardet-Biedl Syndrome 7Bardet-Biedl Syndrome 8Bardet-Biedl Syndrome 9Bartsocas-Papas SyndromeBeckwith-Wiedemann SyndromeBethlem Myopathy 2Bleeding Disorder, Platelet-Type, 19Bohring-Opitz SyndromeBorjeson-Forssman-Lehmann SyndromeBowen-Conradi SyndromeBrachydactyly, Type A1Brachydactyly, Type A1, CBrachydactyly, Type A1, DBrachydactyly, Type A2Brachydactyly, Type B2Brachydactyly, Type E1Brachydactyly-Syndactyly SyndromeBrain Malformations with or Without Urinary Tract DefectsBranchiootorenal SyndromeBranchiootorenal Syndrome 1Branchiootorenal Syndrome 2Buschke-Ollendorff SyndromeC SyndromeCardiofaciocutaneous Syndrome 1Cardiofaciocutaneous Syndrome 2Cardiofaciocutaneous Syndrome 3Cardiofaciocutaneous Syndrome 4Cartilage-Hair HypoplasiaCatel-Manzke SyndromeCerebrocostomandibular SyndromeChar SyndromeCharge SyndromeChediak-Higashi SyndromeChondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and MicrophthalmiaChromosome 13q14 Deletion SyndromeChromosome 16p11.2 Deletion Syndrome, 220-KbChromosome 1q21.1 Deletion Syndrome, 1.35-MbChromosome 6pter-P24 Deletion SyndromeCoach SyndromeCodas SyndromeCohen SyndromeColorblindness, Partial, Deutan SeriesColorblindness, Partial, Protan SeriesCombined Pituitary Hormone Deficiencies, Genetic FormsCone Dystrophy 4Cone-Rod Dystrophy 10Cone-Rod Dystrophy 13Cone-Rod Dystrophy 15Cone-Rod Dystrophy 16Cone-Rod Dystrophy 2Cone-Rod Dystrophy 21Congenital Cataracts, Facial Dysmorphism, and NeuropathyCongenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal NeviCorpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and MicrognathiaCorpus Callosum, Partial Agenesis of, X-LinkedCortical Dysplasia, Complex, with Other Brain Malformations 1Cortical Dysplasia, Complex, with Other Brain Malformations 7Costello SyndromeCousin SyndromeCowden SyndromeCowden Syndrome 1Cowden Syndrome 5Cowden Syndrome 6Craniodiaphyseal DysplasiaCranioectodermal Dysplasia 1Cranioectodermal Dysplasia 2Cranioectodermal Dysplasia 3Cranioectodermal Dysplasia 4Craniometaphyseal Dysplasia, Autosomal DominantCurrarino SyndromeDeafness, Autosomal Dominant 10Deafness, Autosomal Dominant 11Deafness, Autosomal Dominant 12Deafness, Autosomal Dominant 13Deafness, Autosomal Dominant 15Deafness, Autosomal Dominant 16Deafness, Autosomal Dominant 17Deafness, Autosomal Dominant 20Deafness, Autosomal Dominant 22Deafness, Autosomal Dominant 23Deafness, Autosomal Dominant 27Deafness, Autosomal Dominant 28Deafness, Autosomal Dominant 2aDeafness, Autosomal Dominant 2bDeafness, Autosomal Dominant 36Deafness, Autosomal Dominant 3bDeafness, Autosomal Dominant 40Deafness, Autosomal Dominant 44Deafness, Autosomal Dominant 48Deafness, Autosomal Dominant 4bDeafness, Autosomal Dominant 50Deafness, Autosomal Dominant 56Deafness, Autosomal Dominant 6Deafness, Autosomal Dominant 64Deafness, Autosomal Dominant 65Deafness, Autosomal Dominant 66Deafness, Autosomal Dominant 67Deafness, Autosomal Dominant 68Deafness, Autosomal Dominant 69Deafness, Autosomal Dominant 70Deafness, Autosomal Dominant 9Deafness, Autosomal Recessive 101Deafness, Autosomal Recessive 102Deafness, Autosomal Recessive 103Deafness, Autosomal Recessive 104Deafness, Autosomal Recessive 12Deafness, Autosomal Recessive 15Deafness, Autosomal Recessive 16Deafness, Autosomal Recessive 18bDeafness, Autosomal Recessive 1bDeafness, Autosomal Recessive 2Deafness, Autosomal Recessive 21Deafness, Autosomal Recessive 22Deafness, Autosomal Recessive 23Deafness, Autosomal Recessive 24Deafness, Autosomal Recessive 25Deafness, Autosomal Recessive 26Deafness, Autosomal Recessive 28Deafness, Autosomal Recessive 29Deafness, Autosomal Recessive 3Deafness, Autosomal Recessive 30Deafness, Autosomal Recessive 31Deafness, Autosomal Recessive 35Deafness, Autosomal Recessive 36, with or Without Vestibular InvolvementDeafness, Autosomal Recessive 37Deafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductDeafness, Autosomal Recessive 44Deafness, Autosomal Recessive 48Deafness, Autosomal Recessive 49Deafness, Autosomal Recessive 53Deafness, Autosomal Recessive 59Deafness, Autosomal Recessive 6Deafness, Autosomal Recessive 61Deafness, Autosomal Recessive 63Deafness, Autosomal Recessive 66Deafness, Autosomal Recessive 67Deafness, Autosomal Recessive 68Deafness, Autosomal Recessive 7Deafness, Autosomal Recessive 70Deafness, Autosomal Recessive 74Deafness, Autosomal Recessive 76Deafness, Autosomal Recessive 79Deafness, Autosomal Recessive 84aDeafness, Autosomal Recessive 84bDeafness, Autosomal Recessive 86Deafness, Autosomal Recessive 88Deafness, Autosomal Recessive 89Deafness, Autosomal Recessive 9Deafness, Autosomal Recessive 91Deafness, Autosomal Recessive 93Deafness, Autosomal Recessive 97Deafness, Autosomal Recessive 98Deafness-Infertility SyndromeDesbuquois Dysplasia 1Desbuquois Dysplasia 2DiaphanospondylodysostosisDoyne Honeycomb Retinal DystrophyDuane Retraction SyndromeDuane Retraction Syndrome 3 with or Without DeafnessDuane-Radial Ray SyndromeDysosteosclerosisDysspondyloenchondromatosisEctodermal DysplasiaEctodermal Dysplasia 1, Hypohidrotic, X-LinkedEctodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal DominantEctodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal RecessiveEctodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal RecessiveEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3Ellis-Van Creveld SyndromeEndocrine-CerebroosteodysplasiaEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior DisordersEpisodic Ataxia, Type 1Exostoses, Multiple, Type IiFacioscapulohumeral Muscular Dystrophy 1Feingold Syndrome 1Feingold Syndrome 2Floating-Harbor SyndromeFryns SyndromeFundus AlbipunctatusGalloway-Mowat SyndromeGalloway-Mowat Syndrome 1Galloway-Mowat Syndrome 3Galloway-Mowat Syndrome 4Galloway-Mowat Syndrome 5Gapo SyndromeGenitopatellar SyndromeGm1-Gangliosidosis, Type IGrange SyndromeGriscelli Syndrome, Type 1Griscelli Syndrome, Type 2Griscelli Syndrome, Type 3Hartsfield SyndromeHeart Defects, Congenital, and Other Congenital AnomaliesHemimeliaHereditary Hemorrhagic TelangiectasiaHolt-Oram SyndromeHydranencephalyHypertrophic Osteoarthropathy, Primary, Autosomal DominantHypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2Hypogonadotropic Hypogonadism 1 with or Without AnosmiaHypogonadotropic Hypogonadism 10 with or Without AnosmiaHypogonadotropic Hypogonadism 11 with or Without AnosmiaHypogonadotropic Hypogonadism 13 with or Without AnosmiaHypogonadotropic Hypogonadism 14 with or Without AnosmiaHypogonadotropic Hypogonadism 16 with or Without AnosmiaHypogonadotropic Hypogonadism 17 with or Without AnosmiaHypogonadotropic Hypogonadism 18 with or Without AnosmiaHypogonadotropic Hypogonadism 19 with or Without AnosmiaHypogonadotropic Hypogonadism 2 with or Without AnosmiaHypogonadotropic Hypogonadism 20 with or Without AnosmiaHypogonadotropic Hypogonadism 21 with or Without AnosmiaHypogonadotropic Hypogonadism 22 with or Without AnosmiaHypogonadotropic Hypogonadism 23 Without AnosmiaHypogonadotropic Hypogonadism 3 with or Without AnosmiaHypogonadotropic Hypogonadism 4 with or Without AnosmiaHypogonadotropic Hypogonadism 5 with or Without AnosmiaHypogonadotropic Hypogonadism 6 with or Without AnosmiaHypogonadotropic Hypogonadism 7 with or Without AnosmiaHypogonadotropic Hypogonadism 8 with or Without AnosmiaHypogonadotropic Hypogonadism 9 with or Without AnosmiaHypotonia-Cystinuria SyndromeIchthyosis, Spastic Quadriplegia, and Mental RetardationIntellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism SyndromeIsolated Growth Hormone Deficiency, Type IbIsolated Growth Hormone Deficiency, Type IiIsolated Growth Hormone Deficiency, Type VJackson-Weiss SyndromeJacobsen SyndromeJalili SyndromeJohanson-Blizzard SyndromeJoubert Syndrome 1Joubert Syndrome 14Joubert Syndrome 15Joubert Syndrome 16Joubert Syndrome 2Joubert Syndrome 21Joubert Syndrome 24Joubert Syndrome 25Joubert Syndrome 28Joubert Syndrome 3Joubert Syndrome 30Joubert Syndrome 6Joubert Syndrome 7Joubert Syndrome 9Kallmann SyndromeKeutel SyndromeKlippel-Trenaunay-Weber SyndromeLathosterolosisLaurence-Moon SyndromeLaurin-Sandrow SyndromeLeber Congenital AmaurosisLeber Congenital Amaurosis 11Leber Congenital Amaurosis 13Leber Congenital Amaurosis 14Leber Congenital Amaurosis 15Leber Congenital Amaurosis 16Leber Congenital Amaurosis 17Leber Congenital Amaurosis 3Leber Congenital Amaurosis 4Leber Congenital Amaurosis 5Leber Congenital Amaurosis 7Leber Congenital Amaurosis 8Lissencephaly 1Lissencephaly 3Lissencephaly 4Lissencephaly 5Lissencephaly, X-Linked, 1Lissencephaly, X-Linked, 2Loeys-Dietz SyndromeLujan-Fryns SyndromeMacrothrombocytopenia, Autosomal Dominant, Tubb1-RelatedMacular Dystrophy, Vitelliform, 1Macular Dystrophy, Vitelliform, 3Macular Dystrophy, Vitelliform, 4Macular Dystrophy, Vitelliform, 5Mandibuloacral Dysplasia with Type B LipodystrophyMandibuloacral Dysplasia with Type a LipodystrophyMarfan SyndromeMartsolf SyndromeMckusick-Kaufman SyndromeMedullary Sponge KidneyMegalencephaly-Capillary Malformation-Polymicrogyria SyndromeMegalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3Melnick-Needles SyndromeMelorheostosis with OsteopoikilosisMental Retardation and Microcephaly with Pontine and Cerebellar HypoplasiaMental Retardation, Autosomal Dominant 22Mental Retardation, X-Linked, Syndromic, Cabezas TypeMental Retardation, X-Linked, Syndromic, Christianson TypeMental Retardation, X-Linked, Syndromic, Claes-Jensen TypeMental Retardation, X-Linked, Syndromic, Nascimento TypeMental Retardation, X-Linked, Syndromic, Raymond TypeMental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial AppearanceMetaphyseal Dysplasia Without HypotrichosisMetatropic DysplasiaMicrocephaly and Chorioretinopathy, Autosomal Recessive, 1Microcephaly and Chorioretinopathy, Autosomal Recessive, 3Microphthalmia with Limb AnomaliesMidface Hypoplasia, Hearing Impairment, Elliptocytosis, and NephrocalcinosisMonosomy 9q22.3Mucopolysaccharidosis, Type IvbMultiple Epiphyseal DysplasiaMuscle Eye Brain DiseaseMuscular Dystrophy, Becker TypeMuscular Dystrophy, Limb-Girdle, Autosomal Dominant 1Muscular Dystrophy, ScapulohumeralMyopathy, Myofibrillar, 3

Tcmbank Disease

10021004710071013410136101571017110194102211041810519105610627106301067110691107161072510741074210794108171090410914109191094109571098111113111481116311182112101121811329113631138114861149711595115981171171211783117871186111864118801192111951195611987120331206112095120961213012139121841220012243122471228612356123741243912451124751252712591264512671267112687127361280912899129261295012964129751299713040131313141317132491329313348133881346613469134831351135213520135311353213552135851364113645137711381413829139031394113972140140131403414041405114094140961411114129142211430614338143721439414416144451444714457144781454214564145681458914624146414680147211479514798148081482914831487714882148941491149391502815031150841511115152151661517215176152015207152215340153811542115426154501556615726157551575615775158681588215931594715962159971614316161618816194163031636616406164201643164481644916519165241652516552165581665166901669916718167216725167271674116755168021691016929169451696416990169971701703817047170721708817091171061713817206172361727917291173111734517356173791738917402174271747175171754817579175831758717617664176661766717685177101774117762177881779317858178641793517966179717998180461819718218225182301825118277183518358184151841918437184551846418476184841855018557185661862186491866018707187281874518759187921887018881189171899419007190401910019152191771920192161923019272192919357193951941919451946319471948219496195051957719590195931959919601960319649197331974019751197821981519865198741989119903199701999420033200342009020162201712022420242202932033520364203932040620422045520557205702058920620604206242067120684206892071020732207632076720798208762094209992100221030210552106211221141211932122121292133521343214142143421446214821504215812159821603216042161821697217202173021778217792178121810218532186218872190221947219592196722008220162210221702217322181221822223122245222502227022330223522452248225282256722580226832269822701227102271822739227582276522852228542285522860228682287322897229522998230172302423032230472305623069231052315723173231812320232352325223280233002330323342340023418234512351235442356323625236262367323742390423949239522399023998240392404424118241324162241702418724193241942421242102421124238243092434124388243902439124425244322443424484245512455524603246682467424683247424740248052483624994249972504225099251742518325210252122523725269252925314253222534725405254192564325679256942571525813258292587725896259082598825990260032603726051260612613826210262312626726331263342634126400264352645226482265282653226554266092661426623266282662926645266482666626692671826752677726780267972686026863268852692326930269542696227019270312704227138271442714827192719727200272512731027341273902739127393274582747027473274982752427558276092762327635276412764327682774927816278482787027972279932799428022804428045280462804728082281292816828182282152826328281282972832628400284112848128493285202858628624286302865228761287662880228805288082883028869288842889628915289812900290372904229067291129134291752919429238292702933129334293812946629562296122962129626297342983298482992230000300130012300383009830141301463015830180301963022530244302633028730293303173032730381304030408304293047130473305293055830597306043063430663066530673307093080308123086308613090030902309223093530936309573098730993310083109531105311273115331165312443124931281313273133631341313973144031473147831528316033172631732317363174631778318213186431892319323199932040320733208232093321321273214832173321913219632208322432240322593227832304325243253325732853372340835203527358359936203622363036436943697372038173826382939223931394939724062408541364160431443743744394443144564474525454045554607462746284661468947214751477847948374840490949194935494649665019511552495257527952815343534454054195456546754795493549655655571565457595799584558785895928593759460026023606460966107611861436286629362996366382640064236437646865106546610662366346657669267156718673167426785680168436875689468976906690969196959697169796994702770407097709971037227727572977354736473747427752761376267650771777527779788378937896796579757992801880358052806280658070809880998117821482258246825832483808403854985978661870687798806880888989289528996900390229065917923592849379939894319468950595349570958596009615964496519720980498339839987499379976

Itcmdb Generated

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Disease 12q14 Microdeletion Syndrome Details pageDisease 1p21.3 Microdeletion Syndrome Details pageDisease 3mc Syndrome Details pageDisease 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs Details pageDisease 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy Details pageDisease 46,xy Partial Gonadal Dysgenesis Details pageDisease 46,xy Sex Reversal 1 Details pageDisease 46,xy Sex Reversal 3 Details pageDisease 46,xy Sex Reversal 4 Details pageDisease 46,xy Sex Reversal 5 Details pageDisease 46,xy Sex Reversal 6 Details pageDisease 46,xy Sex Reversal 9 Details pageDisease Abruzzo-Erickson Syndrome Details pageDisease Achromatopsia 2 Details pageDisease Achromatopsia 3 Details pageDisease Achromatopsia 7 Details pageDisease Achromatopsia Details pageDisease Acrocallosal Syndrome Details pageDisease Acrocapitofemoral Dysplasia Details pageDisease Acrofacial Dysostosis, Cincinnati Type Details pageDisease Acromesomelic Dysplasia, Hunter-Thompson Type Details pageDisease Acromesomelic Dysplasia, Maroteaux Type Details pageDisease Acromicric Dysplasia Details pageDisease Adams-Oliver Syndrome 1 Details pageDisease Adams-Oliver Syndrome 2 Details pageDisease Adams-Oliver Syndrome 3 Details pageDisease Adams-Oliver Syndrome 4 Details pageDisease Adams-Oliver Syndrome 5 Details pageDisease Adams-Oliver Syndrome 6 Details pageDisease Adams-Oliver Syndrome Details pageDisease Adult Syndrome Details pageDisease Agnathia-Otocephaly Complex Details pageDisease Aicardi-Goutieres Syndrome 1 Details pageDisease Aicardi-Goutieres Syndrome 2 Details pageDisease Aicardi-Goutieres Syndrome 3 Details pageDisease Aicardi-Goutieres Syndrome 4 Details pageDisease Aicardi-Goutieres Syndrome 6 Details pageDisease Aicardi-Goutieres Syndrome 7 Details pageDisease Aicardi-Goutieres Syndrome Details pageDisease Albinism, Oculocutaneous, Type Vi Details pageDisease Allan-Herndon-Dudley Syndrome Details pageDisease Alopecia-Intellectual Disability Syndrome Details pageDisease Alopecia-Mental Retardation Syndrome 1 Details pageDisease Alopecia-Mental Retardation Syndrome 2 Details pageDisease Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Details pageDisease Androgen Insensitivity Syndrome Details pageDisease Androgen Insensitivity, Partial Details pageDisease Angel-Shaped Phalangoepiphyseal Dysplasia Details pageDisease Angelman Syndrome Details pageDisease Aortic Aneurysm, Familial Thoracic 10 Details pageDisease Aortic Aneurysm, Familial Thoracic 4 Details pageDisease Aortic Aneurysm, Familial Thoracic 6 Details pageDisease Aortic Aneurysm, Familial Thoracic 7 Details pageDisease Aortic Aneurysm, Familial Thoracic 8 Details pageDisease Aortic Aneurysm, Familial Thoracic 9 Details pageDisease Auditory Neuropathy, Autosomal Dominant, 1 Details pageDisease Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Details pageDisease Autosomal Recessive Stickler Syndrome Details pageDisease Band Heterotopia Details pageDisease Bardet-Biedl Syndrome 10 Details pageDisease Bardet-Biedl Syndrome 11 Details pageDisease Bardet-Biedl Syndrome 12 Details pageDisease Bardet-Biedl Syndrome 13 Details pageDisease Bardet-Biedl Syndrome 15 Details pageDisease Bardet-Biedl Syndrome 16 Details pageDisease Bardet-Biedl Syndrome 17 Details pageDisease Bardet-Biedl Syndrome 18 Details pageDisease Bardet-Biedl Syndrome 19 Details pageDisease Bardet-Biedl Syndrome 21 Details pageDisease Bardet-Biedl Syndrome 3 Details pageDisease Bardet-Biedl Syndrome 5 Details pageDisease Bardet-Biedl Syndrome 6 Details pageDisease Bardet-Biedl Syndrome 7 Details pageDisease Bardet-Biedl Syndrome 8 Details pageDisease Bardet-Biedl Syndrome 9 Details pageDisease Bardet-Biedl Syndrome Details pageDisease Bartsocas-Papas Syndrome Details pageDisease Beckwith-Wiedemann Syndrome Details pageDisease Bethlem Myopathy 2 Details pageDisease Bleeding Disorder, Platelet-Type, 19 Details pageDisease Bohring-Opitz Syndrome Details pageDisease Borjeson-Forssman-Lehmann Syndrome Details pageDisease Bowen-Conradi Syndrome Details pageDisease Brachydactyly, Type A1 Details pageDisease Brachydactyly, Type A1, C Details pageDisease Brachydactyly, Type A1, D Details pageDisease Brachydactyly, Type A2 Details pageDisease Brachydactyly, Type B2 Details pageDisease Brachydactyly, Type E1 Details pageDisease Brachydactyly-Syndactyly Syndrome Details pageDisease Brain Malformations with or Without Urinary Tract Defects Details pageDisease Branchiootorenal Syndrome 1 Details pageDisease Branchiootorenal Syndrome 2 Details pageDisease Branchiootorenal Syndrome Details pageDisease Buschke-Ollendorff Syndrome Details pageDisease C Syndrome Details pageDisease Cardiofaciocutaneous Syndrome 1 Details pageDisease Cardiofaciocutaneous Syndrome 2 Details pageDisease Cardiofaciocutaneous Syndrome 3 Details pageDisease Cardiofaciocutaneous Syndrome 4 Details pageDisease Cartilage-Hair Hypoplasia Details pageDisease Catel-Manzke Syndrome Details pageDisease Cerebrocostomandibular Syndrome Details pageDisease Char Syndrome Details pageDisease Charge Syndrome Details pageDisease Chediak-Higashi Syndrome Details pageDisease Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia Details pageDisease Chromosome 13q14 Deletion Syndrome Details pageDisease Chromosome 16p11.2 Deletion Syndrome, 220-Kb Details pageDisease Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Details pageDisease Chromosome 6pter-P24 Deletion Syndrome Details pageDisease Coach Syndrome Details pageDisease Codas Syndrome Details pageDisease Cohen Syndrome Details pageDisease Colorblindness, Partial, Deutan Series Details pageDisease Colorblindness, Partial, Protan Series Details pageDisease Combined Pituitary Hormone Deficiencies, Genetic Forms Details pageDisease Cone Dystrophy 4 Details pageDisease Cone-Rod Dystrophy 10 Details pageDisease Cone-Rod Dystrophy 13 Details pageDisease Cone-Rod Dystrophy 15 Details pageDisease Cone-Rod Dystrophy 16 Details pageDisease Cone-Rod Dystrophy 2 Details pageDisease Cone-Rod Dystrophy 21 Details pageDisease Congenital Cataracts, Facial Dysmorphism, and Neuropathy Details pageDisease Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Details pageDisease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Details pageDisease Corpus Callosum, Partial Agenesis of, X-Linked Details pageDisease Cortical Dysplasia, Complex, with Other Brain Malformations 1 Details pageDisease Cortical Dysplasia, Complex, with Other Brain Malformations 7 Details pageDisease Costello Syndrome Details pageDisease Cousin Syndrome Details pageDisease Cowden Syndrome 1 Details pageDisease Cowden Syndrome 5 Details pageDisease Cowden Syndrome 6 Details pageDisease Cowden Syndrome Details pageDisease Craniodiaphyseal Dysplasia Details pageDisease Cranioectodermal Dysplasia 1 Details pageDisease Cranioectodermal Dysplasia 2 Details pageDisease Cranioectodermal Dysplasia 3 Details pageDisease Cranioectodermal Dysplasia 4 Details pageDisease Craniometaphyseal Dysplasia, Autosomal Dominant Details pageDisease Currarino Syndrome Details pageDisease Deafness, Autosomal Dominant 10 Details pageDisease Deafness, Autosomal Dominant 11 Details pageDisease Deafness, Autosomal Dominant 12 Details pageDisease Deafness, Autosomal Dominant 13 Details pageDisease Deafness, Autosomal Dominant 15 Details pageDisease Deafness, Autosomal Dominant 16 Details pageDisease Deafness, Autosomal Dominant 17 Details pageDisease Deafness, Autosomal Dominant 20 Details pageDisease Deafness, Autosomal Dominant 22 Details pageDisease Deafness, Autosomal Dominant 23 Details pageDisease Deafness, Autosomal Dominant 27 Details pageDisease Deafness, Autosomal Dominant 28 Details pageDisease Deafness, Autosomal Dominant 2a Details pageDisease Deafness, Autosomal Dominant 2b Details pageDisease Deafness, Autosomal Dominant 36 Details pageDisease Deafness, Autosomal Dominant 3b Details pageDisease Deafness, Autosomal Dominant 40 Details pageDisease Deafness, Autosomal Dominant 44 Details pageDisease Deafness, Autosomal Dominant 48 Details pageDisease Deafness, Autosomal Dominant 4b Details pageDisease Deafness, Autosomal Dominant 50 Details pageDisease Deafness, Autosomal Dominant 56 Details pageDisease Deafness, Autosomal Dominant 6 Details pageDisease Deafness, Autosomal Dominant 64 Details pageDisease Deafness, Autosomal Dominant 65 Details pageDisease Deafness, Autosomal Dominant 66 Details pageDisease Deafness, Autosomal Dominant 67 Details pageDisease Deafness, Autosomal Dominant 68 Details pageDisease Deafness, Autosomal Dominant 69 Details pageDisease Deafness, Autosomal Dominant 70 Details pageDisease Deafness, Autosomal Dominant 9 Details pageDisease Deafness, Autosomal Recessive 101 Details pageDisease Deafness, Autosomal Recessive 102 Details pageDisease Deafness, Autosomal Recessive 103 Details pageDisease Deafness, Autosomal Recessive 104 Details pageDisease Deafness, Autosomal Recessive 12 Details pageDisease Deafness, Autosomal Recessive 15 Details pageDisease Deafness, Autosomal Recessive 16 Details pageDisease Deafness, Autosomal Recessive 18b Details pageDisease Deafness, Autosomal Recessive 1b Details pageDisease Deafness, Autosomal Recessive 2 Details pageDisease Deafness, Autosomal Recessive 21 Details pageDisease Deafness, Autosomal Recessive 22 Details pageDisease Deafness, Autosomal Recessive 23 Details pageDisease Deafness, Autosomal Recessive 24 Details pageDisease Deafness, Autosomal Recessive 25 Details pageDisease Deafness, Autosomal Recessive 26 Details pageDisease Deafness, Autosomal Recessive 28 Details pageDisease Deafness, Autosomal Recessive 29 Details pageDisease Deafness, Autosomal Recessive 3 Details pageDisease Deafness, Autosomal Recessive 30 Details pageDisease Deafness, Autosomal Recessive 31 Details pageDisease Deafness, Autosomal Recessive 35 Details pageDisease Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement Details pageDisease Deafness, Autosomal Recessive 37 Details pageDisease Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct Details pageDisease Deafness, Autosomal Recessive 44 Details pageDisease Deafness, Autosomal Recessive 48 Details pageDisease Deafness, Autosomal Recessive 49 Details pageDisease Deafness, Autosomal Recessive 53 Details pageDisease Deafness, Autosomal Recessive 59 Details pageDisease Deafness, Autosomal Recessive 6 Details pageDisease Deafness, Autosomal Recessive 61 Details pageDisease Deafness, Autosomal Recessive 63 Details pageDisease Deafness, Autosomal Recessive 66 Details pageDisease Deafness, Autosomal Recessive 67 Details pageDisease Deafness, Autosomal Recessive 68 Details pageDisease Deafness, Autosomal Recessive 7 Details pageDisease Deafness, Autosomal Recessive 70 Details pageDisease Deafness, Autosomal Recessive 74 Details pageDisease Deafness, Autosomal Recessive 76 Details pageDisease Deafness, Autosomal Recessive 79 Details pageDisease Deafness, Autosomal Recessive 84a Details pageDisease Deafness, Autosomal Recessive 84b Details pageDisease Deafness, Autosomal Recessive 86 Details pageDisease Deafness, Autosomal Recessive 88 Details pageDisease Deafness, Autosomal Recessive 89 Details pageDisease Deafness, Autosomal Recessive 9 Details pageDisease Deafness, Autosomal Recessive 91 Details pageDisease Deafness, Autosomal Recessive 93 Details pageDisease Deafness, Autosomal Recessive 97 Details pageDisease Deafness, Autosomal Recessive 98 Details pageDisease Deafness-Infertility Syndrome Details pageDisease Desbuquois Dysplasia 1 Details pageDisease Desbuquois Dysplasia 2 Details pageDisease Diaphanospondylodysostosis Details pageDisease Doyne Honeycomb Retinal Dystrophy Details pageDisease Duane Retraction Syndrome 3 with or Without Deafness Details pageDisease Duane Retraction Syndrome Details pageDisease Duane-Radial Ray Syndrome Details pageDisease Dysosteosclerosis Details pageDisease Dysspondyloenchondromatosis Details pageDisease Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Details pageDisease Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant Details pageDisease Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Details pageDisease Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Details pageDisease Ectodermal Dysplasia Details pageDisease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 Details pageDisease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 Details pageDisease Ellis-Van Creveld Syndrome Details pageDisease Endocrine-Cerebroosteodysplasia Details pageDisease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Details pageDisease Episodic Ataxia, Type 1 Details pageDisease Exostoses, Multiple, Type Ii Details pageDisease Facioscapulohumeral Muscular Dystrophy 1 Details pageDisease Feingold Syndrome 1 Details pageDisease Feingold Syndrome 2 Details pageDisease Floating-Harbor Syndrome Details pageDisease Fryns Syndrome Details pageDisease Fundus Albipunctatus Details pageDisease Galloway-Mowat Syndrome 1 Details pageDisease Galloway-Mowat Syndrome 3 Details pageDisease Galloway-Mowat Syndrome 4 Details pageDisease Galloway-Mowat Syndrome 5 Details pageDisease Galloway-Mowat Syndrome Details pageDisease Gapo Syndrome Details pageDisease Genitopatellar Syndrome Details pageDisease Gm1-Gangliosidosis, Type I Details pageDisease Grange Syndrome Details pageDisease Griscelli Syndrome, Type 1 Details pageDisease Griscelli Syndrome, Type 2 Details pageDisease Griscelli Syndrome, Type 3 Details pageDisease Hartsfield Syndrome Details pageDisease Heart Defects, Congenital, and Other Congenital Anomalies Details pageDisease Hemimelia Details pageDisease Hereditary Hemorrhagic Telangiectasia Details pageDisease Holt-Oram Syndrome Details pageDisease Hydranencephaly Details pageDisease Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant Details pageDisease Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Details pageDisease Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Details pageDisease Hypogonadotropic Hypogonadism 1 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 10 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 11 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 13 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 14 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 16 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 17 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 18 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 19 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 2 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 20 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 21 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 22 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 23 Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 3 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 4 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 5 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 6 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 7 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 8 with or Without Anosmia Details pageDisease Hypogonadotropic Hypogonadism 9 with or Without Anosmia Details pageDisease Hypotonia-Cystinuria Syndrome Details pageDisease Ichthyosis, Spastic Quadriplegia, and Mental Retardation Details pageDisease Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome Details pageDisease Isolated Growth Hormone Deficiency, Type Ib Details pageDisease Isolated Growth Hormone Deficiency, Type Ii Details pageDisease Isolated Growth Hormone Deficiency, Type V Details pageDisease Jackson-Weiss Syndrome Details pageDisease Jacobsen Syndrome Details pageDisease Jalili Syndrome Details pageDisease Johanson-Blizzard Syndrome Details pageDisease Joubert Syndrome 1 Details pageDisease Joubert Syndrome 14 Details pageDisease Joubert Syndrome 15 Details pageDisease Joubert Syndrome 16 Details pageDisease Joubert Syndrome 2 Details pageDisease Joubert Syndrome 21 Details pageDisease Joubert Syndrome 24 Details pageDisease Joubert Syndrome 25 Details pageDisease Joubert Syndrome 28 Details pageDisease Joubert Syndrome 3 Details pageDisease Joubert Syndrome 30 Details pageDisease Joubert Syndrome 6 Details pageDisease Joubert Syndrome 7 Details pageDisease Joubert Syndrome 9 Details pageDisease Kallmann Syndrome Details pageDisease Keutel Syndrome Details pageDisease Klippel-Trenaunay-Weber Syndrome Details pageDisease Lathosterolosis Details pageDisease Laurence-Moon Syndrome Details pageDisease Laurin-Sandrow Syndrome Details pageDisease Leber Congenital Amaurosis 11 Details pageDisease Leber Congenital Amaurosis 13 Details pageDisease Leber Congenital Amaurosis 14 Details pageDisease Leber Congenital Amaurosis 15 Details pageDisease Leber Congenital Amaurosis 16 Details pageDisease Leber Congenital Amaurosis 17 Details pageDisease Leber Congenital Amaurosis 3 Details pageDisease Leber Congenital Amaurosis 4 Details pageDisease Leber Congenital Amaurosis 5 Details pageDisease Leber Congenital Amaurosis 7 Details pageDisease Leber Congenital Amaurosis 8 Details pageDisease Leber Congenital Amaurosis Details pageDisease Lissencephaly 1 Details pageDisease Lissencephaly 3 Details pageDisease Lissencephaly 4 Details pageDisease Lissencephaly 5 Details pageDisease Lissencephaly, X-Linked, 1 Details pageDisease Lissencephaly, X-Linked, 2 Details pageDisease Loeys-Dietz Syndrome Details pageDisease Lujan-Fryns Syndrome Details pageDisease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related Details pageDisease Macular Dystrophy, Vitelliform, 1 Details pageDisease Macular Dystrophy, Vitelliform, 3 Details pageDisease Macular Dystrophy, Vitelliform, 4 Details pageDisease Macular Dystrophy, Vitelliform, 5 Details pageDisease Mandibuloacral Dysplasia with Type B Lipodystrophy Details pageDisease Mandibuloacral Dysplasia with Type a Lipodystrophy Details pageDisease Marfan Syndrome Details pageDisease Martsolf Syndrome Details pageDisease Mckusick-Kaufman Syndrome Details pageDisease Medullary Sponge Kidney Details pageDisease Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Details pageDisease Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Details pageDisease Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Details pageDisease Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Details pageDisease Melnick-Needles Syndrome Details pageDisease Melorheostosis with Osteopoikilosis Details pageDisease Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Details pageDisease Mental Retardation, Autosomal Dominant 22 Details pageDisease Mental Retardation, X-Linked, Syndromic, Cabezas Type Details pageDisease Mental Retardation, X-Linked, Syndromic, Christianson Type Details pageDisease Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Details pageDisease Mental Retardation, X-Linked, Syndromic, Nascimento Type Details pageDisease Mental Retardation, X-Linked, Syndromic, Raymond Type Details pageDisease Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance Details pageDisease Metaphyseal Dysplasia Without Hypotrichosis Details pageDisease Metatropic Dysplasia Details pageDisease Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 Details pageDisease Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 Details pageDisease Microphthalmia with Limb Anomalies Details pageDisease Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis Details pageDisease Monosomy 9q22.3 Details pageDisease Mucopolysaccharidosis, Type Ivb Details pageDisease Multiple Epiphyseal Dysplasia Details pageDisease Muscle Eye Brain Disease Details pageDisease Muscular Dystrophy, Becker Type Details pageDisease Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Details pageDisease Muscular Dystrophy, Scapulohumeral Details pageDisease Myopathy, Myofibrillar, 3 Details page

Do Class Name

disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; physical disorderdisease of anatomical entity; syndromedisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromegenetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disordergenetic disease; disease of anatomical entity; syndrome; physical disordergenetic disease; disease of mental healthgenetic disease; syndromephysical disordersyndrome

Disease Type

diseasegroupphenotype

Hpo Class Name

Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of limbsAbnormality of limbs; Abnormality of the musculatureAbnormality of limbs; Abnormality of the skeletal systemAbnormality of metabolism/homeostasisAbnormality of the cardiovascular systemAbnormality of the digestive system; Abnormality of the nervous systemAbnormality of the earAbnormality of the endocrine system; Abnormality of the nervous systemAbnormality of the endocrine system; Abnormality of the nervous system; Growth abnormalityAbnormality of the eyeAbnormality of the genitourinary systemAbnormality of the genitourinary system; Abnormality of the endocrine systemAbnormality of the integumentAbnormality of the musculatureAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the eyeAbnormality of the nervous system; NeoplasmAbnormality of the skeletal systemNeoplasm; Abnormality of the skeletal system

Link Disease Id

1117.01131.01608.02468.03435.03561.0370.0411.04296.0511.0573.0789.0818.0865.0

Do Disease Class

disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; physical disorderdisease of anatomical entity; genetic disease; physical disorder; syndromedisease of anatomical entity; genetic disease; syndromedisease of anatomical entity; physical disorderdisease of anatomical entity; syndromedisease of mental health; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolismphysical disorderphysical disorder; disease of mental health; genetic disease; syndrome; disease of anatomical entitysyndromesyndrome; genetic disease

Hpo Disease Class

Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of limbsAbnormality of metabolism/homeostasisAbnormality of the cardiovascular systemAbnormality of the earAbnormality of the endocrine system; Abnormality of the genitourinary systemAbnormality of the eyeAbnormality of the eye; Abnormality of the nervous systemAbnormality of the genitourinary systemAbnormality of the integumentAbnormality of the musculatureAbnormality of the musculature; Abnormality of limbsAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the digestive systemAbnormality of the nervous system; Abnormality of the endocrine systemAbnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbsAbnormality of the skeletal system; NeoplasmGrowth abnormality; Abnormality of the nervous system; Abnormality of the endocrine systemNeoplasm; Abnormality of the nervous system

Umls Disease Type

Cell or Molecular DysfunctionCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFindingNeoplastic ProcessPathologic Function

Basic Information

Disease Name

12q14 Microdeletion Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

1p21.3 Microdeletion Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

3mc Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Respiratory diseases

Disease Name

46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases

Disease Name

46,xy Partial Gonadal Dysgenesis

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 5

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 6

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

46,xy Sex Reversal 9

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

Abruzzo-Erickson Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases

Disease Name

Achromatopsia

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Achromatopsia 2

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Achromatopsia 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Achromatopsia 7

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Acrocallosal Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Mental diseases;Neuronal diseases

Disease Name

Acrocapitofemoral Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Acrofacial Dysostosis, Cincinnati Type

Global Category

Genetic diseases

Anatomical Category

Bone diseases

Disease Name

Acromesomelic Dysplasia, Hunter-Thompson Type

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Acromesomelic Dysplasia, Maroteaux Type

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Acromicric Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Adams-Oliver Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 5

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adams-Oliver Syndrome 6

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Adult Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Agnathia-Otocephaly Complex

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Neuronal diseases;Oral diseases

Disease Name

Aicardi-Goutieres Syndrome

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 2

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 4

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 6

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Aicardi-Goutieres Syndrome 7

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Neuronal diseases

Disease Name

Albinism, Oculocutaneous, Type Vi

Global Category

Cancer diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases;Skin diseases

Disease Name

Allan-Herndon-Dudley Syndrome

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases

Disease Name

Alopecia-Intellectual Disability Syndrome

Global Category

Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases;Skin diseases

Disease Name

Alopecia-Mental Retardation Syndrome 1

Global Category

Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Alopecia-Mental Retardation Syndrome 2

Global Category

Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Blood diseases;Mental diseases;Neuronal diseases

Disease Name

Androgen Insensitivity Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

Androgen Insensitivity, Partial

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

Angel-Shaped Phalangoepiphyseal Dysplasia

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Angelman Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 10

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 4

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 6

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 7

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 8

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Aortic Aneurysm, Familial Thoracic 9

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases

Disease Name

Auditory Neuropathy, Autosomal Dominant, 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Neuronal diseases

Disease Name

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Autosomal Recessive Stickler Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Eye diseases

Disease Name

Band Heterotopia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Bardet-Biedl Syndrome

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 10

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 11

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 12

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 13

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 15

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 16

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 17

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 18

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 19

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 21

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 5

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 6

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 7

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 8

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bardet-Biedl Syndrome 9

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Bartsocas-Papas Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Oral diseases;Reproductive diseases;Skin diseases

Disease Name

Beckwith-Wiedemann Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Nephrological diseases

Disease Name

Bethlem Myopathy 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Muscle diseases;Neuronal diseases;Skin diseases

Disease Name

Bleeding Disorder, Platelet-Type, 19

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Immune diseases;Smell/Taste diseases

Disease Name

Bohring-Opitz Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Borjeson-Forssman-Lehmann Syndrome

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Ear diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Bowen-Conradi Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Smell/Taste diseases

Disease Name

Brachydactyly, Type A1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly, Type A1, C

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly, Type A1, D

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly, Type A2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly, Type B2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly, Type E1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brachydactyly-Syndactyly Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Brain Malformations with or Without Urinary Tract Defects

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Nephrological diseases;Neuronal diseases

Disease Name

Branchiootorenal Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Nephrological diseases

Disease Name

Branchiootorenal Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Nephrological diseases

Disease Name

Branchiootorenal Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Nephrological diseases

Disease Name

Buschke-Ollendorff Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Skin diseases

Disease Name

C Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

Cardiofaciocutaneous Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Neuronal diseases;Skin diseases

Disease Name

Cardiofaciocutaneous Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Neuronal diseases;Skin diseases

Disease Name

Cardiofaciocutaneous Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Neuronal diseases;Skin diseases

Disease Name

Cardiofaciocutaneous Syndrome 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Neuronal diseases;Skin diseases

Disease Name

Cartilage-Hair Hypoplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Eye diseases;Skin diseases

Disease Name

Catel-Manzke Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases;Oral diseases

Disease Name

Cerebrocostomandibular Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Mental diseases;Neuronal diseases

Disease Name

Char Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Respiratory diseases;Smell/Taste diseases

Disease Name

Charge Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases

Disease Name

Chediak-Higashi Syndrome

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases;Neuronal diseases;Skin diseases

Disease Name

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

Chromosome 13q14 Deletion Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases

Disease Name

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Nephrological diseases

Disease Name

Chromosome 6pter-P24 Deletion Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Coach Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Neuronal diseases

Disease Name

Codas Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Eye diseases;Smell/Taste diseases

Disease Name

Cohen Syndrome

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Endocrine diseases;Eye diseases;Neuronal diseases;Oral diseases

Disease Name

Colorblindness, Partial, Deutan Series

Global Category

Genetic diseases

Anatomical Category

Eye diseases

Disease Name

Colorblindness, Partial, Protan Series

Global Category

Genetic diseases

Anatomical Category

Eye diseases

Disease Name

Combined Pituitary Hormone Deficiencies, Genetic Forms

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

Cone Dystrophy 4

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 10

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 13

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 15

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 16

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 2

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Cone-Rod Dystrophy 21

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Global Category

Fetal diseases;Genetic diseases;Infectious diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Neuronal diseases;Oral diseases

Disease Name

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Skin diseases

Disease Name

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Corpus Callosum, Partial Agenesis of, X-Linked

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Cortical Dysplasia, Complex, with Other Brain Malformations 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Cortical Dysplasia, Complex, with Other Brain Malformations 7

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Costello Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Neuronal diseases;Skin diseases

Disease Name

Cousin Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Cowden Syndrome

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases;Reproductive diseases;Skin diseases

Disease Name

Cowden Syndrome 1

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases;Reproductive diseases;Skin diseases

Disease Name

Cowden Syndrome 5

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases;Reproductive diseases;Skin diseases

Disease Name

Cowden Syndrome 6

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases;Reproductive diseases;Skin diseases

Disease Name

Craniodiaphyseal Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Cranioectodermal Dysplasia 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Respiratory diseases;Skin diseases

Disease Name

Cranioectodermal Dysplasia 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Respiratory diseases;Skin diseases

Disease Name

Cranioectodermal Dysplasia 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Respiratory diseases;Skin diseases

Disease Name

Cranioectodermal Dysplasia 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Respiratory diseases;Skin diseases

Disease Name

Craniometaphyseal Dysplasia, Autosomal Dominant

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases;Oral diseases

Disease Name

Currarino Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Reproductive diseases

Disease Name

Deafness, Autosomal Dominant 10

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 11

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 12

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 13

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 15

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 16

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 17

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 20

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 22

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 23

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 27

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 28

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 2a

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 2b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 36

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 3b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 40

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 44

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 48

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 4b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 50

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 56

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 6

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 64

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 65

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 66

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 67

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 68

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 69

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 70

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Dominant 9

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 101

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 102

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 103

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 104

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 12

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 15

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 16

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 18b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 1b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 21

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 22

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 23

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 24

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 25

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 26

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 28

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 29

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 30

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 31

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 35

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement

Global Category

Genetic diseases

Anatomical Category

Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 37

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 44

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 48

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 49

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 53

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 59

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 6

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 61

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 63

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 66

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 67

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 68

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 7

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 70

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 74

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 76

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 79

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 84a

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 84b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 86

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 88

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 89

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 9

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 91

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 93

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 97

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness, Autosomal Recessive 98

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Cardiovascular diseases;Ear diseases;Neuronal diseases

Disease Name

Deafness-Infertility Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Ear diseases;Reproductive diseases

Disease Name

Desbuquois Dysplasia 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases

Disease Name

Desbuquois Dysplasia 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases

Disease Name

Diaphanospondylodysostosis

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Doyne Honeycomb Retinal Dystrophy

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Duane Retraction Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Duane Retraction Syndrome 3 with or Without Deafness

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Eye diseases;Neuronal diseases

Disease Name

Duane-Radial Ray Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Eye diseases;Nephrological diseases

Disease Name

Dysosteosclerosis

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Dysspondyloenchondromatosis

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Ectodermal Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Oral diseases;Skin diseases

Disease Name

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Skin diseases

Disease Name

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Nephrological diseases;Skin diseases

Disease Name

Ellis-Van Creveld Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Nephrological diseases;Oral diseases;Respiratory diseases;Skin diseases

Disease Name

Endocrine-Cerebroosteodysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Gastrointestinal Diseases

Disease Name

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Episodic Ataxia, Type 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Eye diseases;Neuronal diseases

Disease Name

Exostoses, Multiple, Type Ii

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Facioscapulohumeral Muscular Dystrophy 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Muscle diseases;Neuronal diseases

Disease Name

Feingold Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Feingold Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Floating-Harbor Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Neuronal diseases;Smell/Taste diseases

Disease Name

Fryns Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Fundus Albipunctatus

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Galloway-Mowat Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

Galloway-Mowat Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

Galloway-Mowat Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

Galloway-Mowat Syndrome 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

Galloway-Mowat Syndrome 5

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Name

Gapo Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases;Oral diseases;Skin diseases

Disease Name

Genitopatellar Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

Gm1-Gangliosidosis, Type I

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Liver diseases;Neuronal diseases

Disease Name

Grange Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Nephrological diseases

Disease Name

Griscelli Syndrome, Type 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Griscelli Syndrome, Type 2

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Griscelli Syndrome, Type 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases

Disease Name

Hartsfield Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

Heart Defects, Congenital, and Other Congenital Anomalies

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases

Disease Name

Hemimelia

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Hereditary Hemorrhagic Telangiectasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Neuronal diseases;Skin diseases

Disease Name

Holt-Oram Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases

Disease Name

Hydranencephaly

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Ear diseases;Eye diseases;Neuronal diseases

Disease Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Skin diseases

Disease Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Skin diseases

Disease Name

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Skin diseases

Disease Name

Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 23 Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 3 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 4 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Reproductive diseases;Smell/Taste diseases

Disease Name

Hypotonia-Cystinuria Syndrome

Global Category

Fetal diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Nephrological diseases

Disease Name

Ichthyosis, Spastic Quadriplegia, and Mental Retardation

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases;Skin diseases

Disease Name

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Global Category

Fetal diseases;Metabolic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases

Disease Name

Isolated Growth Hormone Deficiency, Type Ib

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Endocrine diseases;Immune diseases

Disease Name

Isolated Growth Hormone Deficiency, Type Ii

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases

Disease Name

Isolated Growth Hormone Deficiency, Type V

Global Category

Genetic diseases

Anatomical Category

Bone diseases;Endocrine diseases

Disease Name

Jackson-Weiss Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Jacobsen Syndrome

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases

Disease Name

Jalili Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Oral diseases

Disease Name

Johanson-Blizzard Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Neuronal diseases;Skin diseases

Disease Name

Joubert Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 14

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 15

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 16

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 21

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 24

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 25

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 28

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 30

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 6

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 7

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Joubert Syndrome 9

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases

Disease Name

Kallmann Syndrome

Global Category

Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Name

Keutel Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Neuronal diseases

Disease Name

Klippel-Trenaunay-Weber Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Skin diseases

Disease Name

Lathosterolosis

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Liver diseases;Mental diseases;Neuronal diseases

Disease Name

Laurence-Moon Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Reproductive diseases

Disease Name

Laurin-Sandrow Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Leber Congenital Amaurosis

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 11

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 13

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 14

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 15

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 16

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 17

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 4

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 5

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 7

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Leber Congenital Amaurosis 8

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Neuronal diseases

Disease Name

Lissencephaly 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Muscle diseases;Neuronal diseases;Respiratory diseases

Disease Name

Lissencephaly 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Muscle diseases;Neuronal diseases;Respiratory diseases

Disease Name

Lissencephaly 4

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Muscle diseases;Neuronal diseases;Respiratory diseases

Disease Name

Lissencephaly 5

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Muscle diseases;Neuronal diseases;Respiratory diseases

Disease Name

Lissencephaly, X-Linked, 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Mental diseases;Neuronal diseases;Reproductive diseases

Disease Name

Lissencephaly, X-Linked, 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Mental diseases;Neuronal diseases;Reproductive diseases

Disease Name

Loeys-Dietz Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases;Immune diseases

Disease Name

Lujan-Fryns Syndrome

Global Category

Genetic diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Blood diseases

Disease Name

Macular Dystrophy, Vitelliform, 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Macular Dystrophy, Vitelliform, 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Macular Dystrophy, Vitelliform, 4

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Macular Dystrophy, Vitelliform, 5

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Mandibuloacral Dysplasia with Type B Lipodystrophy

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Mandibuloacral Dysplasia with Type a Lipodystrophy

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Endocrine diseases;Eye diseases;Oral diseases;Skin diseases

Disease Name

Marfan Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Eye diseases

Disease Name

Martsolf Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Reproductive diseases

Disease Name

Mckusick-Kaufman Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Gastrointestinal Diseases

Disease Name

Medullary Sponge Kidney

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Nephrological diseases

Disease Name

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Skin diseases

Disease Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Melnick-Needles Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Eye diseases;Neuronal diseases;Oral diseases

Disease Name

Melorheostosis with Osteopoikilosis

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Name

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, Autosomal Dominant 22

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Cardiovascular diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Neuronal diseases;Skin diseases

Disease Name

Mental Retardation, X-Linked, Syndromic, Cabezas Type

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, X-Linked, Syndromic, Christianson Type

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, X-Linked, Syndromic, Nascimento Type

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, X-Linked, Syndromic, Raymond Type

Global Category

Genetic diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Mental diseases;Neuronal diseases

Disease Name

Metaphyseal Dysplasia Without Hypotrichosis

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Immune diseases

Disease Name

Metatropic Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Respiratory diseases

Disease Name

Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Eye diseases

Disease Name

Microphthalmia with Limb Anomalies

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases

Disease Name

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis

Global Category

Genetic diseases

Anatomical Category

Nephrological diseases

Disease Name

Monosomy 9q22.3

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Eye diseases

Disease Name

Mucopolysaccharidosis, Type Ivb

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases

Disease Name

Multiple Epiphyseal Dysplasia

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases

Disease Name

Muscle Eye Brain Disease

Global Category

Fetal diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Neuronal diseases

Disease Name

Muscular Dystrophy, Becker Type

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Muscle diseases;Neuronal diseases

Disease Name

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Muscle diseases;Neuronal diseases

Disease Name

Muscular Dystrophy, Scapulohumeral

Anatomical Category

Muscle diseases

Disease Name

Myopathy, Myofibrillar, 3

Global Category

Cancer diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Muscle diseases;Neuronal diseases

Disease Definition

120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less seve12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellec16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impai1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding di3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterize46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in inco46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genita46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from a6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnoADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as wellALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma (see this term), hypospadias, mixed conductive-sensorineural hearing loss, short sAcetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of conAcro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renAcrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, seAcromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related tAicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dAllan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. TheAlpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regressionAlport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. Alstr？m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnAnophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal aAplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and eAttenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immuAutosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormAutosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forBNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the preseBannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankylBest vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelBlomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethalitBlue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L)Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporBorjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearaBrachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascuBrachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shoBrachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalangesBrachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd tBranchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalCHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; CharactCSP2006:congenital genetic disease characterized by tonic spasm and rigidity of certain muscles when a voluntary movement is attempted; also known as Thomsen's disease.Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seCantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, cuCartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprisinCaudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (shorCerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal aChristianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizClouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophCone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness anCongenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituiCongenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical couCorpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurologicalCostello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive faciCowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the bCranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), ceCranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, aCraniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, thatCranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis anCraniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and meCurrarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) orCutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis (see this term), characterized by a variable degree of craDeafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and faciaDeletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalitiesDevelopmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from differentDistal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characteriDistal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prDistal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and postDonnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and varDuane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is cDysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading tEEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental aEnchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the loFacioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far.Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in additioGAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestationsGalloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephalyGoldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning dGorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragiliHPO2016_07_04:A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [HPO:probinson]HPO2016_07_04:A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [HPO:probinson]HPO2016_07_04:Absence (aplasia) of the sacrum. [HPO:probinson]HPO2016_07_04:Blue and green cones only; no functional red cones. [DDD:gblack]|HPO2016_07_04:A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [HPO:probinson]HPO2016_07_04:Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [HPO:probinson]HPO2016_07_04:In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [HPO:probinson]Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, aspHirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in thHolt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormoneIntellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide foreIntellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, trueInterstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also obserIsolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonJABL99:A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects.JABL99:A syndrome characterized by a smiling or happy facial expression (hence the adjective "geleophysic" from Greek gelios, laughing + physis, nature), short stature, brachydactyly, and dysostosis multiplex-like changes in the hands and feet. Infiltration of heart valves and liver with mucopolysaccharide-like substance has been demonstrated in some patients. Mild developmental delay is associated in some cases, but speech retardation may be attributed to hearing problems. Psychomotor retardation is an occasional feature.JABL99:A syndrome marked by marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia) associated with mental retardation.JABL99:A syndrome of craniofacial anomalies (macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears), and atrioventricular septal defect. One sister in the original report had Dandy-Walker malformation (absent or hypoplastic cerebellar vermis, hydrocephalus, and posterior fossa continuing with the fourth ventricle). Additional anomalies include colobomas, hypertelorism, hand abnormalities, and mental retardation.JABL99:A syndrome of microcephaly, chorioretinopathy, and mental retardation suggesting toxoplasmosis. A similar association exists in the chorioretinal dysplasia-microcephaly-mental retardation syndrome which is transmitted as an autosomal dominant trait.JABL99:Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly.JABL99:An association of lissencephaly, Walker-Warburg and cerebro-oculo-muscular syndromes, and pathological changes in the brain.JABL99:Defects of ectoderm-derived structures (sparse, slow-growing, fine and hyperpigmented hair, and tooth abnormalities) in association with bone anomalies (craniofacial abnormalities, thoracic and spinal deformities, digital defects, osteopenia, and delayed ossification). Mental development appeared to be normal in earlier reports but psychomotor retardation was observed in later cases.JABL99:Ectrodactyly of the hands and feet (lobster claw anomaly), nasolacrimal duct obstruction, cleft lip and palate, and urogenital abnormalities are the cardinal features. Mental retardation, conductive hearing loss, and abnormalities of the ears and face are occasionally associated. The phenotype overlaps in parts that of the ectrodactyly-mandibulo-facial dysostosis syndrome.JABL99:Mental deficiency, gonadal hypofunction, short stature, "old looking" face, cataracts, and other defects.JABL99:Mental retardation with genital anomalies and cardiomyopathy.JABL99:Mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities. The phenotype varies and not all features are present in individual cases. Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia).JABL99:Partial deletion of the short arm of chromosome 9 with mental retardation, craniofacial anomalies, abnormal dermatoglyphics, short and webbed neck, heart murmurs, square nails, and other defects.JABL99:Progressive myopia beginning in late childhood, vitreoretinal degeneration, retinal detachment causing blindness, cataracts, hearing loss, cleft palate, and spondyloepiphyseal dysplasia. The craniofacial features range from essentially normal face to dish facies with micrognathia, depressed bridge of the nose, long philtrum, and prominent eyes. Patients with Stickler syndrome often have the feature of Robin syndrome (brachygnathia, cleft palate, glossoptosis, and backward and upward displacement of the larynx). Some cases have mental retardation. The clinical manifestations are variable and may differ from one patient to another. Stickler syndrome shares many characteristics with the Marshall, Wagner, and Walden syndromes and is sometimes designated as the Marshall-Stickler, Wagner-Stickler, or Walden syndrome. The radiographic characteristics of the Stickler syndrome during infancy resembles those of the Weisssenbacher-Zweimuller syndrome.JABL99:Psychomotor retardation, short stature, microcephaly, eye defects, and small testes are the principal manifestations.|JABL99:Mental retardation with growth deficiency, craniofacial deformities, heart defects, and dry and brittle hair. This and X-linked mental retardation 1 are considered similar but separate entities.|JABL99:Mental retardation syndrome with microcephaly, brachycephaly, spastic diplegia, small testes, and possibly intra-uterine growth retardation.|JABL99:A mental retardation syndrome with short stature, high pitched voice, high forehead, and receding hairline.Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynosJacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect oJohanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growJoubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia,Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JSJoubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal anJoubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, aKeutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial featuLathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmentLaurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar aLeber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severLhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may afLoeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming aLéri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).MSH2017_2016_08_12:A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.|HPO2016_07_04:A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. [HPO:probinson]|CSP2006:form of dwarfism due to deficient release of growth hormone which may result from dysfunction of the hypothalamus or anterior pituitary gland.MSH2017_2016_08_12:A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)MSH2017_2016_08_12:A syndrome consisting of Duane's syndrome, radial ray anomaly, and frequently, HEARING LOSS, SENSORINEURAL.MSH2017_2016_08_12:An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.|HPO2016_07_04:A bulging, weakened area in the wall of the thoracic aorta. [HPO:probinson]MSH2017_2016_08_12:Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.MSH2017_2016_08_12:Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.MSH2017_2016_08_12:Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)MSH2017_2016_08_12:Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN).Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or lessMcKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (mosMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in sixMelorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reporteMetatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in pMicrophthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactylyMonosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to acceleMultiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weaknessNCI2016_02D:A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.|MSH2017_2016_08_12:Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.NCI2016_02D:A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower.|JABL99:A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.NCI2016_02D:A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.|MSH2017_2016_08_12:Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|CSP2006:diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including luteinizing hormone, follicle stimulating hormone, somatotropin; and corticotropin); may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.NCI2016_02D:A congenital defect characterized by the absence or hypoplasia of one or more extremities.|MSH2017_2016_08_12:Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.NCI2016_02D:A congenital epithelial cyst that develops due to failure of obliteration of the second branchial cleft during embryonic development. It appears as a lump on the side of the neck.|MSH2017_2016_08_12:A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)|HPO2016_07_04:A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. [HPO:sdoelken]NCI2016_02D:A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.|MSH2017_2016_08_12:Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).|HPO2016_07_04:A decreased functionality of the gonad. [HPO:curators]|CSP2006:condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development.NCI2016_02D:A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.|MSH2017_2016_08_12:A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.NCI2016_02D:A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness, hypertrophy, pain, and cramping.|MSH2017_2016_08_12:Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.NCI2016_02D:A genetic disorder associated with a mutation in the AR gene, resulting in partial resistance to androgenic hormones.|MSH2017_2016_08_12:A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE.NCI2016_02D:A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.|HPO2016_07_04:A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. [HPO:probinson]NCI2016_02D:A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.|MSH2017_2016_08_12:A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)|JABL99:A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, or puppet-- hence the synonym "happy puppet syndrome." Other disorders include a peculiar facial expression, mental retardation, movement disorders, microbrachycephaly, and various neurological disorders.|CSP2006:autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed faces, and seizures.NCI2016_02D:A group of genetic degenerative muscle disorders affecting the muscles of the lower arms, hands, lower legs, and feet.|MSH2017_2016_08_12:A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.NCI2016_02D:A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands.|MSH2017_2016_08_12:A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.|HPO2016_07_04:Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [HPO:probinson]NCI2016_02D:A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.|MSH2017_2016_08_12:A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.|MEDLINEPLUS_20151021:Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke|HPO2016_07_04:The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. [HPO:probinson, Neuromics:vstraub]|CSP2006:general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles.|CHV2011_02:an inherited disease where skeletal muscles are progressively weakened and wasted.|CHV2011_02:an inherited disease where skeletal muscles are progressively weakened and wasted.|CHV2011_02:an inherited disease where skeletal muscles are progressively weakened and wasted.|CHV2011_02:an inherited disease where skeletal muscles are progressively weakened and wasted.NCI2016_02D:A meningioma that affects the cerebral sulcus.NCI2016_02D:A meningioma that affects the falx cerebri.NCI2016_02D:A meningioma that affects the olfactory sulcus.NCI2016_02D:A meningioma that affects the ventricles of the brain.NCI2016_02D:A meningioma that arises within the cranial cavity.NCI2016_02D:A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.NCI2016_02D:A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.|MSH2017_2016_08_12:An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)|HPO2016_07_04:Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. [HPO:sdoelken]NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the COL11A1 gene. It is characterized by an abnormal ocular vitreous architecture (beaded vitreous phenotype). Other signs and symptoms include retinal detachment, joint hypermobility, hearing loss, and midline clefting.NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the MYNC oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia.|JABL99:Microcephaly, type A brachydactyly, short stature, duodenal atresia, patent ductus arteriosus, hallux valgus, restricted finger and elbow movement, and syndactyly of the toes. Learning disability occurs in about one-third of the affected infants. Dysplasia of diaphyseal ossification centers is the cause of digital anomalies.NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.NCI2016_02D:A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.|MSH2017_2016_08_12:An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.NCI2016_02D:A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man.|MSH2017_2016_08_12:A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.|CSP2006:form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections; in many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.NCI2016_02D:A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.|MSH2017_2016_08_12:Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.|JABL99:A lissencephaly syndrome characterized by smoothness of the surface of the brain (lissencephaly type II), agyria, thickening of the cortex, and other brain abnormalities in association with severe mental retardation, eye defects, genitourinary abnormalities, hydronephrosis, and other defects with or without encephalocele (written plus or minus E). Many characteristics of this syndrome overlap those of the cerebro-oculo-cerebral syndrome.NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure.|JABL99:Congenital polychondrodystrophy in which narrow and rigid thoracic cage results in asphyxia, ranging in severity from mild cases with minimal respiratory symptoms to fatal asphyxiation. Skeletal dysplasia is not limited to the thoracic structures and may also involve other organs. The affected infants exhibit short-limb dwarfism, ribs, small thoracic cage, and irregular epiphyses and metaphyses. A variety of other abnormalities may be occur, including intestinal malabsorption, renal and hepatic changes, eye abnormalities, hydrocephalus, and infrequent mental retardation. Some cases exhibit ectodermal dysplasia manifestations, such as sparse hair, faulty dentition, and hypoplastic skin over the hands. The syndrome represents a spectrum of disorders with a wide variability in clinical and radiological manifestations.NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.NCI2016_02D:A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.|MSH2017_2016_08_12:Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)|JABL99:Chondrodysplasia of long bones affecting mainly the distal ends of extremities and resulting in short-limb dwarfism, hexadactyly of the fingers and less frequently the toes; ectodermal dysplasia with nail and hair abnormalities, and congenital heart defects. Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and Dandy-Walker syndrome (absence of cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). Some patients are retarded. The largest pedigree was observed in Old Order Amish in Lancaster County, Pennsylvania and some cases were reported in Australian Aborigines.NCI2016_02D:A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine.NCI2016_02D:A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.|MSH2017_2016_08_12:A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)|HPO2016_07_04:A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. [HPO:probinson]NCI2016_02D:A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short ribs, the latter resulting in inability of the lungs to expand. The newborn dies shortly after birth.|MSH2017_2016_08_12:A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.NCI2016_02D:A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.NCI2016_02D:A rare disorder of unknown etiology characterized by hypertrophy of the bones of the distal extremities, periostosis of the tubular bones, digital clubbing, and skin changes including coarse facial features, acne, and hyperhydrosis.|MSH2017_2016_08_12:A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists.NCI2016_02D:A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. It may be of early onset, autosomal dominant inherited and caused by mutations in the BEST1 gene (BEST disease) or late onset, caused by mutations in the PRPH2 gene.|MSH2017_2016_08_12:Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.NCI2016_02D:A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the structures originating from the ectoderm.|MSH2017_2016_08_12:An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.NCI2016_02D:A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads.|MSH2017_2016_08_12:Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.|JABL99:Increased birth weight with excessive growth during the first four years of life, macrocephaly, characteristic facial features, nonprogressive cerebral disorder and mental retardation.NCI2016_02D:A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is associated with short stature, hypotonia, mental retardation, and hand, foot, skull and facial abnormalities.|JABL99:Deletion of the long arm of chromosome 18 with a phenotype that may vary considerably, depending on the type of deletion and location of the breakpoint. The syndrome is marked mainly by mental retardation, midface hypoplasia, deeply set eyes, carp mouth, mild obesity, ataxia, hypotonia, malformed ears, and hyperactive and aggressive behavior. Neoplastic diseases may occur.NCI2016_02D:A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.|MSH2017_2016_08_12:A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).|JABL99:A syndrome of broad thumbs and halluces, typical dysmorphic facies, delayed mental and physical development, pulmonary stenosis, large foramen magnum, vertebral and sternal deformities, dermatoglyphic changes, and other anomalies.NCI2016_02D:A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.|JABL99:A congenital anomaly/mental retardation syndrome marked by heart defects, characteristic facies, ectodermal abnormalities, and growth failure. CFC and Noonan syndromes are sometimes considered the same entityNCI2016_02D:A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. Cardiac, renal and genital abnormalities may also be seen. Clinical course is variable. In the most severe cases, this syndrome is incompatible with life.|JABL99:Symmetrical phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym SC-pseudothalidomide syndrome), flexion contractures of the joints, facial anomalies, micrognathia, scanty blond hair, cloudy corneae, delayed growth, and occasional mental retardation. SC phocomelia and Roberts syndrome are considered by some as the same entity termed Roberts-SC phocomelia syndrome. The syndrome was first observed in a family with surname beginning with S and another with surname beginning with C.|JABL99:A syndrome of symmetric phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym Roberts pseudothalidomide syndrome), craniofacial abnormalities, growth retardation, and mental deficiency with various degrees of severity. Roberts and SC phocomelia syndromes are considered by some the same entity termed Roberts-SC phocomelia syndrome.NCI2016_02D:A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.|MSH2017_2016_08_12:Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.|HPO2016_07_04:Progressive rod photoreceptor dysfunction and loss that leads to night blindness and loss of peripheral visual field, either as the prevailing problem or occurring at least as severely as cone dysfunction. Occurs most often as retinitis pigmentosa (Hereditary degeneration and atrophy of the retina). [HPO:probinson, pmid:20212494]|CSP2006:group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the visual field.NCI2016_02D:A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1.|JABL99:A syndrome with a wide clinical spectrum, consisting of chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency.NCI2016_02D:A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.|JABL99:A developmental defect of the brain caused by incomplete neuronal migration and characterized by smoothness of the surface of the brain (lissencephaly) occurring in association with absence of the sulci and gyri (agyria) and thickening of the cerebral cortex with four rather than six layers (pachygyria), microcephaly, characteristic facial appearance, retarded growth and mental development, neurological complications, and multiple abnormalities of the brain, kidneys, heart, gastrointestinal tract, and other organs. Lissencephaly, once considered as synonymous with Walker-Warburg syndrome and Norman-Roberts syndrome, is now recognized as a component of several other syndromes. Type I (the classical form) is a component of Miller-Dieker and Norman-Roberts syndromes, also occurring as a separate entity; Type II the Walker-Warburg and muscle-eye-brain syndrome, also occurring in the Neu-Laxova syndrome.NCI2016_02D:A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg.|MSH2017_2016_08_12:A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.|JABL99:Hemihypertrophy of the soft and bone tissue, hemangiomata, and varicose veins form the basic triad of this syndrome. Unilateral lesions of the legs with cutaneous and subcutaneous hemangiomas, varicosities, phlebectasis and occasional arteriovenous fistulae were emphasized in earlier reports, but later findings indicate involvement of many other parts of the body. Vascular anomalies may be present at birth or may appear in infancy. Occasional associated abnormalities may include lymphangiomatous anomalies, limb deformities, cutis marmorata, micro- or macrocephaly, eye diseases, and craniofacial deformities. Most patients have normal mentality, except when vascular lesions invade the cerebral tissue. In the absence of arteriovenous fistulae, the syndrome is often referred to as Weber syndrome or Parkes Weber syndrome. Klippel-Trenaunay-Weber syndrome is associated in some cases with Sturge-Weber angiomatosis.NCI2016_02D:A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.|MSH2017_2016_08_12:Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.|CSP2006:rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development of the neural crest (neurocristopathy); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.NCI2016_02D:A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.|MSH2017_2016_08_12:Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.|MEDLINEPLUS_20151021:Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision. There are three types of Usher syndrome: <ul> <li>People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually start by age 10 and lead to blindness.</li> <li>People with type II have moderate to severe hearing loss and normal balance. Vision problems start in the early teens and get worse more slowly than in type I.</li> <li>People with type III are born with normal hearing and near-normal balance but develop vision problems and then hearing loss.</li> </ul> There is no cure. Tools such as <a href='https://www.nlm.nih.gov/medlineplus/hearingaids.html'>hearing aids</a> or <a href='https://www.nlm.nih.gov/medlineplus/cochlearimplants.html'>cochlear implants</a> can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help. NIH: National Institute on Deafness and Other Communication Disorders|JABL99:A hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait.|CSP2006:hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked.NCI2016_02D:A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.|MSH2017_2016_08_12:An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.NCI2016_02D:A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.|MSH2017_2016_08_12:A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.|HPO2016_07_04:Underdevelopment of the optic nerve and absence of the septum pellucidum. [HPO:sdoelken]NCI2016_02D:An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis.NCI2016_02D:An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.|MSH2017_2016_08_12:A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.|JABL99:A syndrome, sometimes considered as three separate entities (Kalmann syndromes 1, 2, and 3), characterized mainly by reduced hypothalamic function and reduced pituitary gonadotropic activity and deficiency of gonadotropin-releasing hormone with resulting hypogonadism and absent or reduced sense of smell due to agenesis of the olfactory bulbs. Associated anomalies include cleft palate, neurosensory hearing loss, congenital heart defect, intestinal malrotation, renal agenesis, hypertension, mental retardation, color blindness, and other defects. Most abnormalities occur in types 1 and 2; type 3 is marked mainly by hypogonadotropic hypogonadism, anosmia, and craniofacial abnormalities.|CSP2006:anosmia due to failure of the olfactory lobes to develop, with secondary hypogonadism due to gonadotropic hormone deficiency.NCI2016_02D:An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.|MSH2017_2016_08_12:A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.NCI2016_02D:An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.|MSH2017_2016_08_12:An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)NCI2016_02D:An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity.NCI2016_02D:An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene. It is characterized by muscle stiffness, which is increased by exposure to cold but does not change to flaccid paralysis with intense cooling.NCI2016_02D:An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.|MSH2017_2016_08_12:A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)NCI2016_02D:An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dygenesis, due to mutation(s) in the WNT4 gene.NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.NCI2016_02D:An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia.|MSH2017_2016_08_12:Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.|MSH2017_2016_08_12:An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)|JABL99:A ganglioside storage disorder due to beta-galactosidase (EC 3.2.1.23) deficiency and abnormal accumulation of GM1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium due. The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, Hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in Hurler syndrome (mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. Severe cerebral degeneration follows with death in the first two years of life usually due to bronchopneumonia. The affected infants are often blind, deaf, and quadriplegic.|CSP2006:form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity.NCI2016_02D:An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.|MSH2017_2016_08_12:Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.NCI2016_02D:An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.|MSH2017_2016_08_12:Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.|CSP2006:autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy; cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur; congenital myotonic dystrophy is a severe form of this disorder.NCI2016_02D:An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.NCI2016_02D:Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones.NCI2016_02D:Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.|HPO2016_07_04:Degeneration of the macula lutea. [HPO:probinson]|CSP2006:deterioration of the macula lutea in the retina; may be inherited, drug induced, or due to aging; leads to a severe loss of central vision while peripheral vision is retained.|CHV2011_02:deterioration of the eye part called macula lutea of the retina|CHV2011_02:deterioration of the eye part called macula lutea of the retina|CHV2011_02:deterioration of the eye part called macula lutea of the retina|CHV2011_02:deterioration of the eye part called macula lutea of the retinaNCI2016_02D:Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in the neonatal period, which can be alleviated by channel blockers.NCI2016_02D:Myotonic dystrophy that is present at birth.NCI2016_02D:The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.|MSH2017_2016_08_12:Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS.NCI2016_CDISC_1602D:Absence or extreme underdevelopment of the lower jaw, producing closeness of the ears below the face. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck.NCI2016_NCI-GLOSS_1602D:A rare, congenital disorder that affects the brain, skin, and eyes. Abnormal blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering) of the brain. This abnormal growth causes red or purple skin discoloration (sometimes called a port wine stain), usually on one side of the face, and can also cause seizures, learning disabilities, and glaucoma.|NCI2016_02D:A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits.|MSH2017_2016_08_12:A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.|JABL99:A group of neurocutaneous disorders manifested by facial and leptomeningeal angiomas, ipsilateral gyriform calcifications of the cerebral cortex, seizures, development delay, hemiplegia, emotional and behavioral problems, and glaucoma and other ocular disorders. Nevus flammeus on the side of the face ipsilateral to angiomatosis sometimes extends to neck, chest, and back. Angiomatosis may occasionally involve the choroid plexus, thyroid, pituitary gland, lungs, gastrointestinal organs, pancreas, ovaries, and thymus. Correlation between the distribution of the nevus and the course of the trigeminal nerve is responsible for naming the syndrome "trigemino-encephalo-angiomatosis," but later findings found the relationship to be fortuitous. The syndrome frequently occurs in incomplete forms, presenting different combinations of symptoms.NCI2016_NCI-GLOSS_1602D:A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor.|NCI2016_02D:A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.|MSH2017_2016_08_12:A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.|JABL99:Enlarged tongue, omphalocele and other umbilical abnormalities, cytomegaly of the adrenal cortex, hyperplasia of gonadal interstitial cells, renal hyperplasia with medullary dysplasia, pancreatic hyperplasia, visceromegaly, and hypoglycemia with various neoplastic diseases and other disorders.NCI2016_NCI-GLOSS_1602D:An inherited disorder marked by the formation of many noncancerous growths called hamartomas. These growths occur in the skin, breast, thyroid, colon, intestines, and inside of the mouth. Patients with Cowden syndrome are at increased risk of certain types of cancer, including breast and thyroid.|NCI2016_02D:An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum.|MSH2017_2016_08_12:A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.NCI2016_NICHD_1602D:A brain malformation characterized by smooth folds and grooves in the brain.|NCI2016_02D:A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.|MSH2017_2016_08_12:A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.|HPO2016_07_04:A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [HPO:curators]NCI2016_NICHD_1602D:A complex group of bone and cartilage disorders that result in abnormalities in the size and shape of the trunk, extremities, and/or skull.|NCI2016_02D:A term referring to disorders characterized by abnormalities in the development of bones and cartilage.|MSH2017_2016_08_12:Abnormal development of cartilage and bone.|HPO2016_07_04:A general term describing features characterized by abnormal development of bones and connective tissues. [HPO:probinson]NCI2016_NICHD_1602D:A congenital renal disorder characterized by dilatation and dysplasia of the medullary and papillary portions of the collecting ducts, usually resulting in the formation of medullary cysts and nephrocalcinosis.|NCI2016_02D:A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones.|MSH2017_2016_08_12:A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.NCI2016_NICHD_1602D:A developmental brain abnormality characterized by abnormal migration of neurons during cortical development.|NCI2016_02D:A developmental brain abnormality characterized by atypical migration of neurons during cortical development.NCI2016_NICHD_1602D:A disorder characterized by the malformation of the legs into a single lower limb.|NCI2016_CDISC_1602D:Any of several degrees of side-to-side fusion of lower extremities and concomitant midline reduction of the pelvis. Soft tissues and long bones, lower paw (feet), and viscera of the pelvis tend to be reduced or absent; anus and external genitalia are often absent. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A disorder characterized by the malformation of the legs into a single lower limb.|HPO2016_07_04:A developmental defect in which the legs are fused together. [HPO:probinson]NCI2016_NICHD_1602D:A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure.|NCI2016_02D:An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.|MSH2017_2016_08_12:An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)NCI2016_NICHD_1602D:A usually benign tumor that develops in the meninges.|NCI2016_NCI-GLOSS_1602D:A type of slow-growing tumor that forms in the meninges (thin layers of tissue that cover and protect the brain and spinal cord). Meningiomas usually occur in adults.|NCI2016_CDISC_1602D:A neoplasm of the meninges, for which the status of malignancy has not been determined.|NCI2016_02D:A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)|MSH2017_2016_08_12:A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)|HPO2016_07_04:The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. [HPO:probinson]|CSP2006:relatively common neoplasm of the central nervous system that arises from arachnoidal cells; the majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur; they have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and spinal canal.|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cord|CHV2011_02:tumor of the membranes that cover and protect the brain and spinal cordNCI2016_NICHD_1602D:An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.|NCI2016_02D:An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.|JABL99:A syndrome in which 2 or more of the following abnormalities occur in most patients: Anorectal malformations (imperforate, stenotic, or anteriorly situated anus), hand deformities (polydactyly, broad, bifid, or triphalangeal thumbs), and external ear abnormalities (microtia, "satyr" or "lop" ear, and preuricular tags or pits), and sensorineural deafness. Intellectual deficit related to hearing disorders or occurring independently may be associated. Urinary tract abnormalities are present in some patients.NCI2016_NICHD_1602D:An autosomal-dominant genetic syndrome caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, pectus excavatum, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.|NCI2016_02D:A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.|MSH2017_2016_08_12:An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.|MEDLINEPLUS_20151021:Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases|CSP2006:disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait.|CHV2011_02:A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.|CHV2011_02:A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.|CHV2011_02:A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.|CHV2011_02:A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.NCI2016_NICHD_1602D:An inherited familial cancer syndrome associated with germ line mutations of the VHL tumor suppressor gene, which is characterized by development of hemangioblastomas of the central nervous system and retina clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors.|NCI2016_NCI-GLOSS_1602D:A rare inherited disorder in which blood vessels grow abnormally in the eyes, brain, spinal cord, adrenal glands, or other parts of the body. People with von Hippel-Lindau syndrome have a higher risk of developing some types of cancer.|NCI2016_02D:An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004|MSH2017_2016_08_12:An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.|MEDLINEPLUS_20151021:Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tumors. They may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. NIH: National Institute of Neurological Disorders and Stroke|CSP2006:autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction.NCI2016_NICHD_1602D:Insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction.|NCI2016_02D:Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.(NICHD)|HPO2016_07_04:Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). [HPO:curators]|HPO2016_07_04:A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). [DDD:spark]NCI2016_NICHD_1602D:Insufficient production of the anterior pituitary hormones.|NCI2016_02D:Insufficient production of all the anterior pituitary hormones.|HPO2016_07_04:A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). [HPO:probinson, pmid:12466332]Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nysNaxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplaNijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications sNorrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hOculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart diseaOculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystaOculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerveOculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves atOculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transpareOculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.PSY2004:A genetic disorder with onset in infancy that is characterized by supravalvular aortic stenosis, mental retardation, elfin facies, and hypercalcemia.|NCI2016_NICHD_1602D:A syndrome due to multiple gene deletions, which is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities, and infantile hypercalcemia.|NCI2016_02D:A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.|MSH2017_2016_08_12:A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.|JABL99:A multiple congenital anomaly/mental retardation syndrome with a complex phenotype and age-related variability of expression. Typical facial appearance (elfin facies) is the most characteristic feature of this syndrome. Delayed growth, feeding difficulty, failure to thrive, colic, otitis media, and mental retardation are the early symptoms in infancy. Developmental disabilities and cardiovascular complications become apparent later in childhood. Hypertension, gastrointestinal problems, and genitourinary disorders usually complicate adult development. The phenotype may overlap with hypercalcemia with or without mental retardation and supravalvular aortic stenosis with or without mental retardation.|CSP2006:syndrome of elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies, and idiopathic infantile hypercalcemia.Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platPartial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutanePiebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the foPlatyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertPotocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To daProteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck dSNOMEDCT_US_2016_09_01:A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.SNOMEDCT_US_2016_09_01:A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.SNOMEDCT_US_2016_09_01:A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.|NCI2016_02D:A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.SNOMEDCT_US_2016_09_01:Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive.|NCI2016_02D:A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.|JABL99:Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated.|HPO2016_07_04:Congenital absence of the vermis of cerebellum. [HPO:probinson]SNOMEDCT_US_2016_09_01:The most common subtype of pontocerebellar hypoplasia with features of neonatal onset, lack of voluntary motor development and later progressive microencephaly, general clonus, development of chorea and spasticity.The majority of patients will not reach puberty. Inherited in an autosomal recessive manner.|NCI2016_02D:A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity.Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost abSchinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype isSchwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distSenior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, arShort rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant aSimpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofaciSmith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech andSotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disabilitySpondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspSpondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of theSpondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tuSpondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteriSpondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metStargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregulaSteinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or caSturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in vaStüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respTemtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable cranioTetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, fThe 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distincThe newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mThis syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thType 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophaVici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyVon Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoWAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmentalWaardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair anWaardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and HirschsprungWeaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional featuresWelander distal myopathy (WDM) is a distal myopathy (see this term), characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muWoodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonX-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophaX-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphismX-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eyX-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

Me Sh Disease Class

Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCardiovascular DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Respiratory Tract Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Eye DiseasesCardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System DiseasesCardiovascular Diseases; Mental Disorders; Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Nutritional and Metabolic Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Endocrine System DiseasesCardiovascular Diseases; Neoplasms; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Neoplasms; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCardiovascular Diseases; Nervous System Diseases; NeoplasmsCardiovascular Diseases; Respiratory Tract DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsDigestive System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesDigestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsEndocrine System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesEye DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Musculoskeletal DiseasesEye Diseases; Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesEye Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsEye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases; Male Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsEye Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Skin and Connective Tissue DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Endocrine System DiseasesHemic and Lymphatic DiseasesHemic and Lymphatic Diseases; Otorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsHemic and Lymphatic Diseases; Pathological Conditions, Signs and SymptomsImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesImmune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy ComplicationsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Endocrine System DiseasesMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Wounds and Injuries; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsNeoplasmsNeoplasms; Musculoskeletal DiseasesNeoplasms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Pathological Conditions, Signs and SymptomsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous System Diseases; Endocrine System DiseasesNervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesNervous System Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsNervous System Diseases; Musculoskeletal DiseasesNervous System Diseases; NeoplasmsNervous System Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Musculoskeletal DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesRespiratory Tract Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesStomatognathic Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases

Dis Ge Net Disease Type

diseasegroupphenotype

Disease Class Name Me Sh

Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Endocrine System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesDigestive System DiseasesEndocrine System DiseasesEye DiseasesEye Diseases; Cardiovascular DiseasesEye Diseases; Nervous System DiseasesEye Diseases; Skin and Connective Tissue DiseasesFemale Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesHemic and Lymphatic DiseasesMusculoskeletal DiseasesMusculoskeletal Diseases; Nervous System DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesMusculoskeletal Diseases; Respiratory Tract DiseasesMusculoskeletal Diseases; Stomatognathic DiseasesNeoplasmsNeoplasms; Musculoskeletal DiseasesNeoplasms; Nervous System DiseasesNeoplasms; Nervous System Diseases; Cardiovascular DiseasesNervous System DiseasesNervous System Diseases; Endocrine System DiseasesNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and InjuriesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Neoplasms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsRespiratory Tract Diseases; Cardiovascular DiseasesSkin and Connective Tissue Diseases; Musculoskeletal Diseases

Umls Semantic Type Name

Cell or Molecular DysfunctionCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFindingNeoplastic ProcessPathologic Function