DiseaseID 7525
神经鞘瘤
disease
3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) a
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Disease: 1Experiment: 11Formula: 24Herb: 12Symptom: 12Target: 35Links: 95
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7525
- Core Entity Id
- 64328
- Source Entity Count
- 1
- Preferred Name
- Neurilemmoma
- Name Cn
- 神经鞘瘤
- Name Pinyin
- Shen Jing Qiao Liu
- Name En
- Neurilemmoma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCardiovascular Diseases; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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 Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEndocrine System Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Male Urogenital Diseases; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases; Musculoskeletal DiseasesImmune System Diseases; Endocrine System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and SymptomsMental 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 Symptoms; Musculoskeletal DiseasesMental 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 DiseasesMental Disorders; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Endocrine System Diseases; 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 Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsNeoplasmsNeoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous 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; Musculoskeletal DiseasesNervous System Diseases; NeoplasmsNervous System Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous System Diseases; Otorhinolaryngologic Diseases; NeoplasmsNervous System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNutritional and Metabolic DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsStomatognathic 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
- Do Class
- disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; disease of cellular proliferationdisease of anatomical entity; genetic disease; physical disorder; syndromedisease of anatomical entity; genetic disease; syndromedisease of anatomical entity; physical disorder; syndromedisease of mental health; disease of anatomical entity; genetic diseasedisease of mental health; disease of anatomical entity; genetic disease; syndromedisease of mental health; genetic diseasedisease of mental health; syndrome; genetic diseasegenetic diseasegenetic disease; disease of metabolismsyndromesyndrome; genetic disease
- Hpo Class
- Abnormality of connective tissue; Abnormality of the skeletal system; Abnormality of the musculatureAbnormality of head or neckAbnormality of head or neck; Abnormality of the musculature; Abnormality of the nervous systemAbnormality of the ear; Neoplasm; Abnormality of the nervous systemAbnormality of the eyeAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the integument; NeoplasmNeoplasmNeoplasm; Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal 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; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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; Otorhinolaryngologic Diseases; Hemic and Lymphatic 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; Endocrine System DiseasesImmune System Diseases; Endocrine System DiseasesNeoplasmsNeoplasms; Nervous System DiseasesNeoplasms; Nervous System Diseases; Otorhinolaryngologic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal 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; Endocrine 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; 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 DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological 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; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System 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; Endocrine 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; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of head or neckAbnormality of the eyeAbnormality of the integument; Abnormality of the nervous system; NeoplasmAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculatureAbnormality of the nervous system; NeoplasmAbnormality of the nervous system; Neoplasm; Abnormality of the earAbnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculatureNeoplasm
- Do Class Name
- disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; syndrome; physical disorderdisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; disease of cellular proliferationgenetic disease; disease of anatomical entity; disease of mental healthgenetic disease; disease of anatomical entity; syndromegenetic disease; disease of anatomical entity; syndrome; disease of mental healthgenetic disease; disease of anatomical entity; syndrome; physical disordergenetic disease; syndromegenetic disease; syndrome; disease of mental healthsyndrome
- Disease Definition
- 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) a
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Neurilemmoma
Role
preferred
Name
3M Syndrome
Role
preferred
Name
7-Dehydrocholesterol Reductase Deficiency
Role
preferred
Name
Acromegaloid Facial Appearance Syndrome
Role
preferred
Name
Arhinencephaly
Role
preferred
Name
Arthrogryposis, Distal, Type 1A
Role
preferred
Name
Arthrogryposis, Distal, Type 1B
Role
preferred
Name
Arthrogryposis, Distal, Type 2B
Role
preferred
Name
Arthrogryposis, Distal, Type 5
Role
preferred
Name
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Role
preferred
Name
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Role
preferred
Name
Autoimmune Polyendocrinopathy Syndrome, Type 1
Role
preferred
Name
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
Role
preferred
Name
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia
Role
preferred
Name
Autoimmune Polyendocrinopathy Type 1
Role
preferred
Name
Autoimmune Polyglandular Syndrome Type Iii
Role
preferred
Name
Autoimmune Syndrome Type Ii, Polyglandular
Role
preferred
Name
Baraitser-Winter Syndrome 2
Role
preferred
Name
Barber-Say Syndrome
Role
preferred
Name
Boomerang Dysplasia
Role
preferred
Name
Branchiootic Syndrome 1
Role
preferred
Name
Carpenter Syndrome 2
Role
preferred
Name
Cerebrooculofacioskeletal Syndrome 2
Role
preferred
Name
Cerebrooculofacioskeletal Syndrome 3
Role
preferred
Name
Cerebrooculofacioskeletal Syndrome 4
Role
preferred
Name
Cockayne Syndrome
Role
preferred
Name
Coffin-Lowry Syndrome
Role
preferred
Name
Coffin-Siris Syndrome 4
Role
preferred
Name
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Role
preferred
Name
Cornelia De Lange Syndrome 2
Role
preferred
Name
Cornelia De Lange Syndrome 3
Role
preferred
Name
Craniofacial-Deafness-Hand Syndrome
Role
preferred
Name
Cyclocephaly
Role
preferred
Name
Digitotalar Dysmorphism
Role
preferred
Name
Dubowitz Syndrome
Role
preferred
Name
Familial Porphyria Cutanea Tarda
Role
preferred
Name
Female Pseudo-Turner Syndrome
Role
preferred
Name
Fraser Syndrome
Role
preferred
Name
Fryns-Aftimos Syndrome
Role
preferred
Name
Gemss Syndrome
Role
preferred
Name
Goldenhar Syndrome
Role
preferred
Name
Goldenhar Syndrome With Ipsilateral Radial Defect
Role
preferred
Name
Greig Cephalopolysyndactyly Syndrome
Role
preferred
Name
Harderoporphyria
Role
preferred
Name
Hepatoerythropoietic Porphyria
Role
preferred
Name
Holoprosencephaly
Role
preferred
Name
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Role
preferred
Name
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Role
preferred
Name
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome
Role
preferred
Name
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Role
preferred
Name
Islets Of Langerhans, Absence Of
Role
preferred
Name
Isolated Pierre Robin Syndrome
Role
preferred
Name
Kabuki Syndrome 2
Role
preferred
Name
Lead Poisoning, Susceptibility To
Role
preferred
Name
Leopard Syndrome 3
Role
preferred
Name
Marshall Syndrome
Role
preferred
Name
Mental Retardation, Autosomal Dominant 12
Role
preferred
Name
Mental Retardation, Autosomal Dominant 27
Role
preferred
Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Role
preferred
Name
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Role
preferred
Name
Mobius Ii Syndrome
Role
preferred
Name
Mobius Syndrome
Role
preferred
Name
Moebius Syndrome
Role
preferred
Name
Muenke Syndrome
Role
preferred
Name
Mulibrey Nanism
Role
preferred
Name
Multiple Pterygium Syndrome, Lethal Type
Role
preferred
Name
Nance-Horan Syndrome
Role
preferred
Name
Neurofibromatosis, Familial Spinal
Role
preferred
Name
Neurofibromatosis-Noonan Syndrome
Role
preferred
Name
Nonsyndromic Holoprosencephaly
Role
preferred
Name
Noonan Syndrome
Role
preferred
Name
Noonan Syndrome 10
Role
preferred
Name
Noonan Syndrome 3
Role
preferred
Name
Noonan Syndrome 4
Role
preferred
Name
Noonan Syndrome 5
Role
preferred
Name
Noonan Syndrome 6
Role
preferred
Name
Noonan Syndrome 7
Role
preferred
Name
Noonan Syndrome 8
Role
preferred
Name
Noonan Syndrome 9
Role
preferred
Name
Noonan-Like Syndrome With Loose Anagen Hair
Role
preferred
Name
Orofaciodigital Syndrome I
Role
preferred
Name
Orofaciodigital Syndrome Type 1
Role
preferred
Name
Orofaciodigital Syndromes
Role
preferred
Name
Otofaciocervical Syndrome 1
Role
preferred
Name
Pena Shokeir Syndrome Type 2
Role
preferred
Name
Pfeiffer Type Acrocephalosyndactyly
Role
preferred
Name
Polyendocrinopathies, Autoimmune
Role
preferred
Name
Polyglandular Deficiency Syndrome, Persian-Jewish Type
Role
preferred
Name
Polyglandular Type I Autoimmune Syndrome
Role
preferred
Name
Porphobilinogen Synthase Deficiency
Role
preferred
Name
Porphyria Cutanea Tarda
Role
preferred
Name
Porphyria Cutanea Tarda, Type I
Role
preferred
Name
Porphyria Due To Ala Dehydratase Deficiency
Role
preferred
Name
Porphyria, Acute Hepatic
Role
preferred
Name
Porphyria, South African Type
Role
preferred
Name
Porphyrias, Hepatic
Role
preferred
Name
Robinow Syndrome, Autosomal Dominant 1
Role
preferred
Name
Robinow Syndrome, Autosomal Dominant 2
Role
preferred
Name
Saethre-Chotzen Syndrome
Role
preferred
Name
Schwannomatosis 1
Role
preferred
Name
Seckel Syndrome
Role
preferred
Name
Seckel Syndrome 1
Role
preferred
Name
Seckel Syndrome 4
Role
preferred
Name
Seckel Syndrome 5
Role
preferred
Name
Seckel Syndrome 9
Role
preferred
Name
Sheldon-Hall Syndrome
Role
preferred
Name
Short Stature, Microcephaly, And Endocrine Dysfunction
Role
preferred
Name
Silver-Russell Syndrome
Role
preferred
Name
Smith-Lemli-Opitz Syndrome
Role
preferred
Name
Smith-Lemli-Opitz Syndrome, Type Ii
Role
preferred
Name
Three M Syndrome 1
Role
preferred
Name
Three M Syndrome 2
Role
preferred
Name
Three M Syndrome 3
Role
preferred
Name
Trichorhinophalangeal Syndrome, Type Iii
Role
preferred
Name
Uroporphyrinogen Decarboxylase Deficiency
Role
preferred
Name
Variegate Porphyria
Role
preferred
Name
Warburg Micro Syndrome 2
Role
preferred
Name
Warburg Micro Syndrome 3
Role
preferred
Name
Warburg Micro Syndrome 4
Role
preferred
Name
Watson Syndrome
Role
preferred
Name
Weill-Marchesani Syndrome 1
Role
preferred
Name
Weill-Marchesani Syndrome 3
Role
preferred
Name
Weill-Marchesani-Like Syndrome
Role
preferred
Name
Xeroderma Pigmentosum
Role
preferred
Name
Xeroderma Pigmentosum B-Cockayne Syndrome
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group B
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group C
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group D
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group E
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group F
Role
preferred
Name
Xeroderma Pigmentosum, Complementation Group G
Role
preferred
Name
Xeroderma Pigmentosum, Group B
Role
preferred
Name
Xeroderma Pigmentosum, Group F
Role
preferred
Name
Xeroderma Pigmentosum, Group G
Role
preferred
Name
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Role
preferred
Name
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Role
preferred
Name
ABLEPHARON-MACROSTOMIA SYNDROME
Role
preferred
Name
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
Role
preferred
Name
ARTHROGRYPOSIS, DISTAL, TYPE 1
Role
preferred
Name
ARTHROGRYPOSIS, DISTAL, TYPE 10
Role
preferred
Name
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
Role
preferred
Name
Aarskog Syndrome
Role
preferred
Name
Aarskog-Scott Syndrome
Role
preferred
Name
Acampomelic Campomelic Dysplasia
Role
preferred
Name
Acoustic Neuroma
Role
preferred
Name
Acrocephalopolysyndactyly
Role
preferred
Name
Acrocephalopolysyndactyly Type 2
Role
preferred
Name
Acrocephalosyndactylia
Role
preferred
Name
Adrenal Hypoplasia, Cytomegalic Type
Role
preferred
Name
Alobar Holoprosencephaly
Role
preferred
Name
Anterior Segment Anomalies With Or Without Cataract
Role
preferred
Name
Antley-Bixler Syndrome
Role
preferred
Name
Apert Syndrome
Role
preferred
Name
Apert-Crouzon Disease
Role
preferred
Name
Arthrogryposis, Distal, Type 2E
Role
preferred
Name
Arthrogryposis, Distal, Type 7
Role
preferred
Name
Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness
Role
preferred
Name
Autosomal Recessive Facio-Digito-Genital Syndrome
Role
preferred
Name
Autosomal Recessive Robinow Syndrome
Role
preferred
Name
BRANCHIOOTIC SYNDROME 3 (disorder)
Role
preferred
Name
Barber Say Syndrome
Role
preferred
Name
Branchiootic Syndrome
Role
preferred
Name
CAMFAK syndrome
Role
preferred
Name
CAMPOMELIC DYSPLASIA
Role
preferred
Name
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Role
preferred
Name
CARPENTER SYNDROME 1
Role
preferred
Name
Cafe-Au-Lait Macules With Pulmonary Stenosis
Role
preferred
Name
Cellular Schwannoma
Role
preferred
Name
Cerebellopontine Angle Tumor
Role
preferred
Name
Chondrodysplasia-Disorder Of Sex Development Syndrome
Role
preferred
Name
Cockayne Syndrome, Type I
Role
preferred
Name
Cockayne Syndrome, Type II
Role
preferred
Name
Cockayne Syndrome, Type III
Role
preferred
Name
Coffin-Siris Syndrome
Role
preferred
Name
Cofs Syndrome
Role
preferred
Name
Congenital Contractural Arachnodactyly
Role
preferred
Name
Congenital Malformation Syndromes Affecting Facial Appearance
Role
preferred
Name
Congenital Malformation Syndromes Associated With Short Stature
Role
preferred
Name
Congenital Muscular Hypertrophy-Cerebral Syndrome
Role
preferred
Name
Coproporphyria, Hereditary
Role
preferred
Name
Cornelia De Lange Syndrome
Role
preferred
Name
Cornelia De Lange Syndrome 1
Role
preferred
Name
Craniofacial Deafness Hand Syndrome
Role
preferred
Name
Craniofrontonasal Syndrome
Role
preferred
Name
Cryptophthalmos Syndrome
Role
preferred
Name
Curry-Jones Syndrome
Role
preferred
Name
Distal Arthrogryposis Syndrome
Role
preferred
Name
Distal Arthrogryposis Type 5D
Role
preferred
Name
Dwarfism Tall Vertebrae
Role
preferred
Name
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Role
preferred
Name
FRASER SYNDROME 1
Role
preferred
Name
FRASER SYNDROME 2
Role
preferred
Name
FRASER SYNDROME 3
Role
preferred
Name
Familial Acoustic Neuroma
Role
preferred
Name
Freeman-Sheldon Syndrome
Role
preferred
Name
Frontonasal Dysplasia With Alopecia And Genital Anomaly
Role
preferred
Name
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome
Role
preferred
Name
Gordon Syndrome
Role
preferred
Name
Hecht Syndrome (Disorder)
Role
preferred
Name
Hemifacial Hypoplasia
Role
preferred
Name
Hemifacial Microsomia
Role
preferred
Name
Hereditary Coproporphyria
Role
preferred
Name
Hypertelorism, Teebi Type
Role
preferred
Name
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Role
preferred
Name
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Role
preferred
Name
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Role
preferred
Name
Kabuki Make-Up Syndrome
Role
preferred
Name
Kabuki Syndrome 1
Role
preferred
Name
LEOPARD Syndrome
Role
preferred
Name
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Role
preferred
Name
Langer Mesomelic Dysplasia
Role
preferred
Name
Leopard Syndrome 1
Role
preferred
Name
Lobar Holoprosencephaly
Role
preferred
Name
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
Role
preferred
Name
Malignant Peripheral Nerve Sheath Tumor
Role
preferred
Name
Mandibulofacial Dysostosis, Guion-Almeida Type
Role
preferred
Name
Melanotic Neurilemmoma
Role
preferred
Name
Mental Retardation, Autosomal Dominant 15
Role
preferred
Name
Mental Retardation, X-Linked, Syndromic 16
Role
preferred
Name
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Role
preferred
Name
Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities
Role
preferred
Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Role
preferred
Name
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Role
preferred
Name
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Role
preferred
Name
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Role
preferred
Name
Mohr Syndrome
Role
preferred
Name
Multiple Pterygium Syndrome
Role
preferred
Name
Multiple Pterygium Syndrome, Autosomal Dominant
Role
preferred
Name
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Role
preferred
Name
Neurofibromatoses
Role
preferred
Name
Neurofibromatosis 1
Role
preferred
Name
Neurofibromatosis 2
Role
preferred
Name
Neurofibromatosis 3
Role
preferred
Name
Neurofibromatosis Type 2
Role
preferred
Name
Neurofibromatosis, Type 3, Mixed Central And Peripheral
Role
preferred
Name
Neurofibromatosis, Type 4, of Riccardi
Role
preferred
Name
Neurofibromatosis, Type Ii
Role
preferred
Name
Neurofibrosarcoma
Role
preferred
Name
Neuroma, Acoustic, Bilateral
Role
preferred
Name
Noonan Syndrome 1
Role
preferred
Name
Noonan Syndrome 2
Role
preferred
Name
Noonan Syndrome With Multiple Lentigines
Role
preferred
Name
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Role
preferred
Name
OTOPALATODIGITAL SYNDROME, TYPE II
Role
preferred
Name
Oculomelic Amyoplasia
Role
preferred
Name
Orofaciodigital Syndrome Type1
Role
preferred
Name
Osteoglophonic Dwarfism
Role
preferred
Name
Oto-Palato-Digital Syndrome Type 1
Role
preferred
Name
Otofaciocervical Syndrome
Role
preferred
Name
Otopalatodigital Spectrum Disorder
Role
preferred
Name
Otopalatodigital Syndrome Type 1
Role
preferred
Name
Pericardial Constriction With Growth Failure
Role
preferred
Name
Pfeiffer Syndrome
Role
preferred
Name
Pfeiffer Syndrome Type 2
Role
preferred
Name
Pierre Robin Syndrome
Role
preferred
Name
Polyglandular Type III Autoimmune Syndrome
Role
preferred
Name
Porphyria Variegata
Role
preferred
Name
Prader-Willi Syndrome
Role
preferred
Name
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
Role
preferred
Name
Robinow Syndrome
Role
preferred
Name
Robinow Syndrome, Autosomal Dominant
Role
preferred
Name
Royer Syndrome
Role
preferred
Name
Russell-Silver Syndrome
Role
preferred
Name
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Role
preferred
Name
SCHWANNOMATOSIS 2
Role
preferred
Name
SHOX-related short stature
Role
preferred
Name
Saethre-Chotzen Syndrome With Eyelid Anomalies
Role
preferred
Name
Schwannoma, Acoustic, Bilateral
Role
preferred
Name
Schwannomatosis
Role
preferred
Name
Schwannomatosis, Plexiform
Role
preferred
Name
Semilobar Holoprosencephaly
Role
preferred
Name
Sj？Gren-Larsson Syndrome
Role
preferred
Name
Smith-Lemli-Opitz Syndrome, Type I
Role
preferred
Name
Trichorhinophalangeal Syndrome Type 1 And 3
Role
preferred
Name
Turner Syndrome, Male
Role
preferred
Name
Warburg Micro Syndrome 1
Role
preferred
Name
Warburg Sjo Fledelius Syndrome
Role
preferred
Name
Weill-Marchesani Syndrome
Role
preferred
Name
Weill-Marchesani Syndrome, Autosomal Dominant
Role
preferred
Name
Weill-Marchesani Syndrome, Autosomal Recessive
Role
preferred
Name
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
Role
preferred
Name
Xeroderma Pigmentosum Variant
Role
preferred
Name
Xeroderma Pigmentosum, Group A
Role
preferred
Name
Xeroderma Pigmentosum, Variant Type
Role
preferred
Name
3-M Syndrome
Role
alias
Name
3M SYNDROME 2
Role
alias
Name
3M SYNDROME 3
Role
alias
Name
3M1
Role
alias
Name
3M2
Role
alias
Name
3M3
Role
alias
Name
ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES
Role
alias
Name
ACROCEPHALOSYNDACTYLY, TYPE III
Role
alias
Name
ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY
Role
alias
Name
ACS III
Role
alias
Name
ACS3
Role
alias
Name
ALAD DEFICIENCY
Role
alias
Name
ALAD Porphyria
Role
alias
Name
AMCD1
Role
alias
Name
APECED
Role
alias
Name
APECED Syndrome
Role
alias
Name
APS I
Role
alias
Name
APS1
Role
alias
Name
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
Role
alias
Name
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
Role
alias
Name
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
Role
alias
Name
ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES
Role
alias
Name
ARTHROGRYPOSIS, DISTAL, TYPE IIB
Role
alias
Name
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY
Role
alias
Name
AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I
Role
alias
Name
AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME, X-LINKED
Role
alias
Name
Acoustic Neurinoma, Bilateral
Role
alias
Name
Acoustic Schwannomas, Bilateral
Role
alias
Name
Acrocephalopolysyndactyly Type Ii
Role
alias
Name
Acrocephalosyndactyly Type 3
Role
alias
Name
Acute Porphyria
Role
alias
Name
Arrhinencephaly
Role
alias
Name
Arthrogryposis And Sensorineural Deafness
Role
alias
Name
Arthrogryposis Multiplex Congenita, Distal Type 1
Role
alias
Name
Arthrogryposis With Severe Scoliosis
Role
alias
Name
Arthrogryposis, Distal, Type 2A
Role
alias
Name
Arthrogryposis, Distal, Type 3
Role
alias
Name
Arthrogryposis, Distal, Type 4
Role
alias
Name
Arthrogryposis, Distal, Type 5D
Role
alias
Name
Arthrogryposis, Distal, Type 6
Role
alias
Name
Arthrogryposis, Distal, Type 8
Role
alias
Name
Arthrogryposis, Distal, Type 9
Role
alias
Name
Atypical Neurofibromatosis
Role
alias
Name
Autoimmune Hypoparathyroidism-chronic Candidiasis-Addison Disease Syndrome
Role
alias
Name
Autoimmune Polyendocrine Syndrome
Role
alias
Name
Autoimmune Polyendocrine Syndrome Type 1
Role
alias
Name
Autoimmune Polyendocrine Syndrome Type 2
Role
alias
Name
Autoimmune Polyendocrine Syndrome, Type Ii
Role
alias
Name
Autoimmune Polyglandular Failure
Role
alias
Name
Autoimmune Polyglandular Syndrome Type 1
Role
alias
Name
Autosomal Dominant Non-Syndromic Intellectual Disability 27
Role
alias
Name
Autosomal Dominant Robinow Syndrome 1
Role
alias
Name
Autosomal Dominant Robinow Syndrome 2
Role
alias
Name
Autosomal Dominant Robinow Syndrome 3
Role
alias
Name
BBRSAY
Role
alias
Name
BIRD-HEADED DWARFISM
Role
alias
Name
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY
Role
alias
Name
BO SYNDROME 1
Role
alias
Name
BOS1
Role
alias
Name
BPES3, FORMERLY
Role
alias
Name
BRACHYMELIC PRIMORDIAL DWARFISM
Role
alias
Name
BRANCHIOOTIC DYSPLASIA
Role
alias
Name
BRWS2
Role
alias
Name
BSS
Role
alias
Name
Baraitser-Winter Syndrome
Role
alias
Name
Baraitser-Winter Syndrome 1
Role
alias
Name
Bilateral Acoustic Neurofibromatosis
Role
alias
Name
Bilateral Acoustic Neuromas
Role
alias
Name
Bilateral Vestibular Schwannoma
Role
alias
Name
Branchiootic Syndrome 3
Role
alias
Name
CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS
Role
alias
Name
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH
Role
alias
Name
CATARACT-DENTAL SYNDROME
Role
alias
Name
CDHS
Role
alias
Name
CDLS, X-LINKED
Role
alias
Name
CDLS2
Role
alias
Name
CDLS3
Role
alias
Name
CEPHALOSKELETAL DYSPLASIA
Role
alias
Name
CHOTZEN SYNDROME
Role
alias
Name
CLIFAHDD
Role
alias
Name
CLS
Role
alias
Name
COFS2
Role
alias
Name
COFS3
Role
alias
Name
COFS4
Role
alias
Name
CORNELIA DE LANGE SYNDROME, X-LINKED
Role
alias
Name
CRPT2
Role
alias
Name
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
Role
alias
Name
CSS4
Role
alias
Name
Carpenter Syndrome
Role
alias
Name
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Role
alias
Name
Cockayne Syndrome A
Role
alias
Name
Cockayne Syndrome B
Role
alias
Name
Coffin-Siris Syndrome 1
Role
alias
Name
Coffin-Siris Syndrome 2
Role
alias
Name
Coffin-Siris Syndrome 3
Role
alias
Name
Congenital Bilateral Facial Palsy
Role
alias
Name
Congenital Bilateral Facial Weakness
Role
alias
Name
Congenital Facial Diplegia
Role
alias
Name
Congenital Malformation Syndromes Predominantly Affecting Facial Appearance
Role
alias
Name
Congenital Malformation Syndromes Predominantly Associated With Short Stature
Role
alias
Name
Contractural Arachnodactyly, Congenital
Role
alias
Name
Cryptophthalmos-syndactyly Syndrome
Role
alias
Name
Cyclopia
Role
alias
Name
Cyclops Eye
Role
alias
Name
DA1
Role
alias
Name
DA1A
Role
alias
Name
DA1B
Role
alias
Name
DA2B
Role
alias
Name
DA5
Role
alias
Name
DAIIB
Role
alias
Name
DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY
Role
alias
Name
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
Role
alias
Name
DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME, X-LINKED
Role
alias
Name
DMSD
Role
alias
Name
DOSS PORPHYRIA
Role
alias
Name
DRS1
Role
alias
Name
DRS2
Role
alias
Name
De Lange Syndrome
Role
alias
Name
Decreased Size of Half of The Face
Role
alias
Name
Decreased Size of One Side of The Face
Role
alias
Name
Distal Arthrogryposis
Role
alias
Name
Distal Arthrogryposis Type 1
Role
alias
Name
Distal Arthrogryposis Type 2B
Role
alias
Name
Distal Arthrogryposis Type 5
Role
alias
Name
Distal Arthrogryposis Type IIB
Role
alias
Name
Distal Arthrogryposis With Ophthalmoplegia
Role
alias
Name
Distal Arthrogryposis, Type 1
Role
alias
Name
Dolichospondylic Dysplasia
Role
alias
Name
Dwarfism With Tall Vertebrae
Role
alias
Name
Dysplasia, Campomelic
Role
alias
Name
ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY
Role
alias
Name
FETAL FACE SYNDROME
Role
alias
Name
FSNF
Role
alias
Name
FSSV
Role
alias
Name
Faciodigitogenital Syndrome, Autosomal Recessive
Role
alias
Name
Faciogenital Dysplasia
Role
alias
Name
Freeman-Sheldon Syndrome Variant
Role
alias
Name
GCPS
Role
alias
Name
Gloomy Face Syndrome
Role
alias
Name
H
Role
alias
Name
HAFF
Role
alias
Name
HEP
Role
alias
Name
HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA
Role
alias
Name
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
Role
alias
Name
Hecht Syndrome
Role
alias
Name
Holoprosencephaly 1
Role
alias
Name
Holoprosencephaly, Familial Alobar
Role
alias
Name
Hpec
Role
alias
Name
Hypertrichosis-acromegaloid Facial Features Syndrome
Role
alias
Name
Hypertrichosis-atrophic Skin-ectropion-macrostomia Syndrome
Role
alias
Name
Hypertrichosis-coarse Face Syndrome
Role
alias
Name
IDDM-SECRETORY DIARRHEA SYNDROME
Role
alias
Name
IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLY
Role
alias
Name
IPEX
Role
alias
Name
Image Syndrome
Role
alias
Name
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Role
alias
Name
Isolated Pierre Robin Sequence
Role
alias
Name
KABUK2
Role
alias
Name
Kabuki Syndrome
Role
alias
Name
Kuwait Type Faciodigitogenital Syndrome
Role
alias
Name
LETHAL ACRODYSGENITAL SYNDROME
Role
alias
Name
LMPS
Role
alias
Name
LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA
Role
alias
Name
LPRD3
Role
alias
Name
Le Merrer Syndrome
Role
alias
Name
MCCRP2
Role
alias
Name
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16
Role
alias
Name
MESIODENS-CATARACT SYNDROME
Role
alias
Name
MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
Role
alias
Name
MICRO SYNDROME 2
Role
alias
Name
MICRO SYNDROME 3
Role
alias
Name
MICROCEPHALIC PRIMORDIAL DWARFISM I
Role
alias
Name
MNKES
Role
alias
Name
MOPD
Role
alias
Name
MOPD I
Role
alias
Name
MOPD1
Role
alias
Name
MRD16
Role
alias
Name
MRD27
Role
alias
Name
MRSHS
Role
alias
Name
MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS
Role
alias
Name
MULIBREY Dwarfism
Role
alias
Name
MUSCLE-LIVER-BRAIN-EYE NANISM
Role
alias
Name
Male Turner Syndrome
Role
alias
Name
Malignant Schwannoma
Role
alias
Name
Marchesani Weill Syndrome
Role
alias
Name
Microcephalic Osteodysplastic Primordial Dwarfism Type I
Role
alias
Name
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Role
alias
Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type 1
Role
alias
Name
Microcephaly And Chorioretinopathy 2
Role
alias
Name
Multiple Endocrine Deficiency-Addison Disease-candidiasis Syndrome
Role
alias
Name
Multiple Lentigines Syndrome
Role
alias
Name
Multiple Neurofibromas
Role
alias
Name
Multiple Pterygium Syndrome, Escobar Variant
Role
alias
Name
M？bius Syndrome
Role
alias
Name
NANOCEPHALIC DWARFISM
Role
alias
Name
NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS
Role
alias
Name
NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE
Role
alias
Name
NFNS
Role
alias
Name
NHS
Role
alias
Name
NOONAN-NEUROFIBROMATOSIS SYNDROME
Role
alias
Name
NS10
Role
alias
Name
NS3
Role
alias
Name
NS4
Role
alias
Name
NS5
Role
alias
Name
NS6
Role
alias
Name
NS7
Role
alias
Name
NS8
Role
alias
Name
NS9
Role
alias
Name
Neurilemmomatosis
Role
alias
Name
Neurinoma
Role
alias
Name
Neurofibromas
Role
alias
Name
Neurofibromata
Role
alias
Name
Neurofibromatosis
Role
alias
Name
Neurofibromatosis Type 1-Noonan Syndrome
Role
alias
Name
Neurofibromatosis, Type I
Role
alias
Name
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Role
alias
Name
Neurofibromatosis, Type Iv, of Riccardi
Role
alias
Name
Neurolemmoma
Role
alias
Name
Neuroma, Acoustic
Role
alias
Name
Neurosarcoma
Role
alias
Name
Nf Iii
Role
alias
Name
OFC
Role
alias
Name
OFC1
Role
alias
Name
OFD1
Role
alias
Name
OFDI
Role
alias
Name
OFDS I
Role
alias
Name
ORAL-FACIAL-DIGITAL SYNDROME, TYPE I
Role
alias
Name
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Role
alias
Name
OTFCS
Role
alias
Name
Opd1
Role
alias
Name
Oral-facial-digital Syndrome Type 1
Role
alias
Name
Orofaciodigital Syndrome
Role
alias
Name
Orofaciodigital Syndrome X
Role
alias
Name
Osteoglophonic Dysplasia
Role
alias
Name
Oto-Palato-Digital Syndrome, Type 2
Role
alias
Name
Otopalatodigital Syndrome, Type I
Role
alias
Name
PAPILLON-LEAGE AND PSAUME SYNDROME
Role
alias
Name
PCT
Role
alias
Name
PCT, 'FAMILIAL' TYPE
Role
alias
Name
PCT, TYPE II
Role
alias
Name
PERHEENTUPA SYNDROME
Role
alias
Name
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
Role
alias
Name
PGA I
Role
alias
Name
POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG
Role
alias
Name
POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA, X-LINKED
Role
alias
Name
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I
Role
alias
Name
POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE
Role
alias
Name
PORPHYRIA CUTANEA TARDA, TYPE II
Role
alias
Name
PORPHYRIA, ALAD
Role
alias
Name
PORPHYRIA, HEPATOCUTANEOUS TYPE
Role
alias
Name
PORPHYRIA, HEPATOERYTHROPOIETIC
Role
alias
Name
PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Role
alias
Name
PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS
Role
alias
Name
Papillon-Léage-Psaume Syndrome
Role
alias
Name
Pericardial Constriction-growth Failure Syndrome
Role
alias
Name
Pierre Robin Sequence
Role
alias
Name
Pierre-Robin Anomaly
Role
alias
Name
Pierre-Robin Deformity
Role
alias
Name
Pierre-Robin Malformation
Role
alias
Name
Pierre-Robin Sequence
Role
alias
Name
Plexiform Schwannoma
Role
alias
Name
Polyglandular Autoimmune Syndrome, Type Ii
Role
alias
Name
Porphyria Due To ALAD Deficiency
Role
alias
Name
Porphyria Due To Delta-aminolevulinate Dehydratase Deficiency
Role
alias
Name
Porphyria Of Doss
Role
alias
Name
Porphyria, Variegate
Role
alias
Name
Pterygium Multiple Syndrome, Lethal Type
Role
alias
Name
Pterygium Syndrome, Multiple, Autosomal Dominant
Role
alias
Name
ROBINOW DWARFISM
Role
alias
Name
RSH Syndrome
Role
alias
Name
RSS
Role
alias
Name
RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
Role
alias
Name
Robin Sequence
Role
alias
Name
SCKL
Role
alias
Name
SCKL1
Role
alias
Name
SCKL4
Role
alias
Name
SCKL5
Role
alias
Name
SCKL9
Role
alias
Name
SCS
Role
alias
Name
SECKEL-TYPE DWARFISM
Role
alias
Name
SHS
Role
alias
Name
SILVER-RUSSELL DWARFISM
Role
alias
Name
SLO SYNDROME
Role
alias
Name
SLOS
Role
alias
Name
SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
Role
alias
Name
SRS
Role
alias
Name
SSMED
Role
alias
Name
SUGIO-KAJII SYNDROME
Role
alias
Name
SWNTS1
Role
alias
Name
Sakati-Nyhan Syndrome
Role
alias
Name
Schwann Cell Tumor
Role
alias
Name
Schwann Cell Tumour
Role
alias
Name
Schwannoma
Role
alias
Name
Schwannomas
Role
alias
Name
Silver Russell Syndrome
Role
alias
Name
Single Brain Ventricle
Role
alias
Name
Single Central Eye
Role
alias
Name
Sommer-Young-Wee-Frye Syndrome
Role
alias
Name
Syndrome, Apert
Role
alias
Name
Syndrome, Coffin-Lowry
Role
alias
Name
TALS
Role
alias
Name
TAYBI-LINDER SYNDROME
Role
alias
Name
TRPS3
Role
alias
Name
Tosti Syndrome
Role
alias
Name
Trichorhinophalangeal Syndrome Type Iii
Role
alias
Name
UROD DEFICIENCY
Role
alias
Name
Vestibular Neurilemmoma
Role
alias
Name
Vestibular Neurinoma
Role
alias
Name
Vestibular Neurolemmoma
Role
alias
Name
Vestibular Schwann Cell Tumor
Role
alias
Name
Vestibular Schwannoma
Role
alias
Name
WARBM2
Role
alias
Name
WARBM3
Role
alias
Name
WARBM4
Role
alias
Name
WMS1
Role
alias
Name
WMS3
Role
alias
Name
WTSN
Role
alias
Name
Warburg Micro Syndrome
Role
alias
Name
Weill-Marchesani Syndrome 2
Role
alias
Name
Weill-Marchesani Syndrome 4
Role
alias
Name
Weissenbacher-Zweymuller Syndrome
Role
alias
Name
X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
Role
alias
Name
XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
Role
alias
Name
XERODERMA PIGMENTOSUM III
Role
alias
Name
XERODERMA PIGMENTOSUM IV
Role
alias
Name
XERODERMA PIGMENTOSUM V
Role
alias
Name
XERODERMA PIGMENTOSUM VI
Role
alias
Name
XERODERMA PIGMENTOSUM VII
Role
alias
Name
XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME
Role
alias
Name
XLAAD
Role
alias
Name
XP
Role
alias
Name
XP, GROUP B
Role
alias
Name
XP, GROUP C
Role
alias
Name
XP, GROUP D
Role
alias
Name
XP, GROUP E
Role
alias
Name
XP, GROUP F
Role
alias
Name
XP, GROUP G
Role
alias
Name
XP, GROUP H, FORMERLY
Role
alias
Name
XP/CS Complex
Role
alias
Name
XP3
Role
alias
Name
XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY
Role
alias
Name
XP5
Role
alias
Name
XP6
Role
alias
Name
XP7
Role
alias
Name
XP8, FORMERLY
Role
alias
Name
XPB
Role
alias
Name
XPB/CS
Role
alias
Name
XPBC
Role
alias
Name
XPC
Role
alias
Name
XPCC
Role
alias
Name
XPD
Role
alias
Name
XPDC
Role
alias
Name
XPE
Role
alias
Name
XPF
Role
alias
Name
XPF/CS
Role
alias
Name
XPG
Role
alias
Name
XPG/CS
Role
alias
Name
XPGC
Role
alias
Name
XPH, FORMERLY
Role
alias
Name
XPID
Role
alias
Name
Xeroderma Pigmentosum Group A
Role
alias
Name
Xeroderma Pigmentosum Group B
Role
alias
Name
Xeroderma Pigmentosum Group C
Role
alias
Name
Xeroderma Pigmentosum Group D
Role
alias
Name
Xeroderma Pigmentosum Group E
Role
alias
Name
Xeroderma Pigmentosum Group F
Role
alias
Name
Xeroderma Pigmentosum Group G
Role
alias
Name
Xeroderma Pigmentosum Variant Type
Role
alias
Name
Xeroderma Pigmentosum, Complementation Group A
Role
alias
Name
Yakut Short Stature Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000201HP:0001067HP:0001360HP:0002139HP:0002507HP:0005684HP:0006870HP:0006988HP:0007188HP:0007524HP:0009588HP:0009589HP:0009914HP:0011332HP:0100008HP:0100697
Herb
HBDIS000033HBDIS000613HBDIS001962HBDIS002106HBDIS002113HBDIS002114HBDIS002118HBDIS002141HBDIS002198HBDIS002391HBDIS002458HBDIS003033HBDIS003159HBDIS003176HBDIS003197HBDIS003287HBDIS003375HBDIS003376HBDIS004126HBDIS004127HBDIS004128HBDIS004134HBDIS004136HBDIS004150HBDIS004175HBDIS004177HBDIS004178HBDIS004181HBDIS004183HBDIS004186HBDIS004455HBDIS004494HBDIS004496HBDIS004499HBDIS004500HBDIS004507HBDIS004572HBDIS005748HBDIS005749HBDIS005752HBDIS005759HBDIS005761HBDIS005762HBDIS005764HBDIS005766HBDIS005768HBDIS005774HBDIS005775HBDIS005781HBDIS005806HBDIS005810HBDIS005821HBDIS006043HBDIS006191HBDIS006192HBDIS006193HBDIS006194HBDIS006195HBDIS006257HBDIS006258HBDIS006544HBDIS007266HBDIS007267HBDIS007969HBDIS008090HBDIS008092HBDIS008422HBDIS009312HBDIS009322HBDIS009323HBDIS009396HBDIS009417HBDIS009430HBDIS009653HBDIS009965HBDIS010156HBDIS010637HBDIS011139HBDIS011140HBDIS011141HBDIS011269HBDIS011385HBDIS011418HBDIS011668HBDIS011689HBDIS011735HBDIS011888HBDIS012380HBDIS012698HBDIS012699HBDIS012700HBDIS013087HBDIS013432HBDIS013494HBDIS013511HBDIS013948HBDIS014335HBDIS014336HBDIS014469HBDIS014507HBDIS014982HBDIS015227HBDIS015248HBDIS015482HBDIS015700HBDIS015908HBDIS015939HBDIS016007HBDIS016116HBDIS016124HBDIS016260HBDIS016454HBDIS016455HBDIS016518HBDIS016804HBDIS016852HBDIS016892HBDIS016900HBDIS016901HBDIS016902HBDIS016906HBDIS016973HBDIS017043HBDIS017056HBDIS017057HBDIS017207HBDIS017232HBDIS017233HBDIS017643HBDIS017669HBDIS017737HBDIS017764HBDIS017803HBDIS017812HBDIS017831HBDIS017916HBDIS017917HBDIS017967HBDIS017968HBDIS018021HBDIS018023HBDIS018096HBDIS018179HBDIS018182HBDIS018405HBDIS018497HBDIS018498HBDIS018671HBDIS018724HBDIS018858HBDIS019546HBDIS019655HBDIS019776HBDIS019785HBDIS019808HBDIS019880HBDIS019886HBDIS019996HBDIS020005HBDIS020268HBDIS020295HBDIS020304HBDIS020305HBDIS020317HBDIS020385HBDIS020452HBDIS020729HBDIS020730HBDIS020780HBDIS021092HBDIS021277HBDIS021307HBDIS021387HBDIS021392HBDIS021478HBDIS021494HBDIS021550HBDIS021742HBDIS021785HBDIS021837HBDIS021854HBDIS022079HBDIS022127HBDIS022231HBDIS022328HBDIS022421HBDIS022795HBDIS023117HBDIS024386HBDIS025318HBDIS025616HBDIS025646HBDIS025699HBDIS025703HBDIS025764HBDIS025793HBDIS025882HBDIS026672HBDIS027089HBDIS027090HBDIS027179HBDIS027180HBDIS027181HBDIS027185HBDIS027189HBDIS027214HBDIS027259HBDIS027318HBDIS027384HBDIS027705HBDIS028514HBDIS028769HBDIS028901HBDIS028906HBDIS028936HBDIS028944HBDIS029051HBDIS029226HBDIS029310HBDIS029333HBDIS029335HBDIS029364HBDIS029384HBDIS029390HBDIS029391HBDIS029512HBDIS029564HBDIS029851HBDIS029959
Me Sh
D000168D003057D003635D006053D009442D009456D009464D009634D009958D01D010855D011218D014983D016142D016518D016884D017094D017119D017121D017253D018319D019082D020331D038921D044542D046349D046350D050336D055036D056730D056846D058497
Omim
100050101000101200101400101600102150108120108145108200112310114290114300121050121070121300122470122880126050126950133540135900147920151100154780158300162091162200162210162260162270163950166250166780175700176090176100176200176270178110180700187370190351193520193700194400200110201000202155209885210600210710210720211990212540216400219000223370227330240300241410243310252100253250253290253310265000269200270400273750277600277720278700278720278730278740278750278760278780300590300867302350303600304120304790305400311200311300600118600546601321601680602588602849605275607721608328608389609128609579609942610610651610733610756610758610759611553612740612921613195613224613676613706613707613823614614205614222614225614335614562614583614607614608614609614732614819614976615065615355615663615670615866616171616266616331616541616559616564616570616777616894617666617667
Umls
C0001193C0009207C0027809C0027832C0027859C0028326C0029294C0031900C0032897C0037231C0041409C0043346C0078982C0079541C0085409C0085859C0085860C0162531C0162532C0162533C0162566C0162569C0175691C0175693C0175694C0175699C0175701C0175704C0220658C0220662C0220666C0220668C0220681C0220767C0221060C0265202C0265205C0265224C0265226C0265233C0265235C0265240C0265251C0265252C0265306C0265307C0265313C0265338C0266667C0268136C0268138C0268140C0268141C0268323C0268324C0268328C0270972C0282644C0342288C0342859C0342861C0432201C0432230C0432246C0432283C0432328C0524582C0553586C0795915C0796004C0796085C0796280C0853240C1136041C1136042C1136043C1275078C1319466C1510455C1510460C1527404C1535942C1802395C1833691C1834235C1834523C1838625C1838654C1840378C1842462C1843181C1844569C1844663C1844696C1846009C1848410C1848411C1848862C1849334C1851443C1851996C1852085C1852510C1853099C1853100C1853102C1853120C1853623C1854664C1854678C1855840C1855868C1855869C1859312C1859452C1860224C1860823C1860991C1861922C1861923C1862472C1863370C1863371C1863389C1863391C1864436C1864652C1865070C1865143C1867858C1867859C1867968C1869114C1869115C1968561C1969057C1970808C2678312C2698658C2713347C2748608C2749602C2750732C2750787C2752041C2752147C2931277C2931416C2931424C2931426C2931482C2931588C2931888C2931895C2936913C3149848C3150970C3150971C3151187C3275495C3275558C3280146C3280203C3280214C3280526C3281235C3494489C3501846C3549544C3551443C3553249C3553785C3554247C3711749C3714941C3806565C3809233C3810265C3888212C4014528C4015388C4048809C4225212C4225280C4225282C4225288C4225363C4225398
Icd10
E31.0E80.1E80.2Q04.1Q04.2Q68.8Q82.1Q85.0Q85.02Q87.0Q87.1
Med Dra
10100005231000294310019866100292711002974810030069100482201004867610053878100563541005958910062901100639351006496310067148
Sym Map
SMDE00044SMDE00048SMDE00052SMDE00066SMDE00076SMDE00082SMDE00113SMDE00127SMDE00168SMDE00169SMDE00180SMDE00213SMDE00232SMDE00263SMDE00267SMDE00281SMDE00286SMDE00301SMDE00396SMDE00540SMDE00562SMDE00568SMDE00569SMDE00597SMDE00617SMDE00713SMDE00741SMDE00747SMDE00759SMDE00862SMDE00872SMDE00952SMDE00999SMDE01014SMDE01033SMDE01066SMDE01076SMDE01098SMDE01103SMDE01107SMDE01133SMDE01193SMDE01231SMDE01245SMDE01270SMDE01380SMDE01425SMDE01445SMDE01452SMDE01533SMDE01565SMDE01585SMDE01646SMDE01665SMDE01693SMDE01723SMDE01766SMDE01831SMDE01950SMDE02037SMDE02093SMDE02158SMDE02240SMDE02253SMDE02258SMDE02306SMDE02335SMDE02361SMDE02414SMDE02425SMDE02432SMDE02452SMDE02453SMDE02565SMDE02568SMDE02595SMDE02627SMDE02642SMDE02655SMDE02659SMDE02663SMDE02670SMDE02770SMDE02780SMDE02789SMDE02804SMDE02852SMDE02865SMDE02925SMDE02968SMDE02994SMDE02996SMDE03047SMDE03070SMDE03093SMDE03118SMDE03123SMDE03141SMDE03235SMDE03243SMDE03270SMDE03283SMDE03297SMDE03318SMDE03352SMDE03461SMDE03467SMDE03470SMDE03520SMDE03544SMDE03546SMDE03555SMDE03577SMDE03701SMDE03734SMDE03760SMDE03787SMDE03828SMDE03835SMDE03883SMDE03907SMDE03932SMDE04000SMDE04040SMDE04078SMDE04083SMDE04095SMDE04109SMDE04165SMDE04237SMDE04252SMDE04283SMDE04376SMDE04382SMDE04395SMDE04450SMDE04516SMDE04554SMDE04589SMDE04737SMDE04892SMDE04917SMDE05011SMDE05043SMDE05087SMDE05093SMDE05111SMDE05169SMDE05255SMDE05262SMDE05359SMDE05388SMDE05995SMDE06018SMDE06198SMDE06199SMDE06200SMDE06201SMDE06202SMDE06702SMDE07301SMDE07690SMDE08622SMDE08648SMDE08707SMDE08864SMDE08975SMDE09098SMDE09099SMDE09225SMDE09526SMDE09957SMDE10097SMDE10344SMDE11061SMDE11062SMDE11417SMDE11439SMDE11447SMDE11541SMDE11543SMDE11655SMDE11656SMDE12030SMDE12122SMDE12281SMDE12282SMDE12284SMDE12317SMDE12318SMDE12322SMDE12323SMDE13256SMDE14058SMDE14134SMDE14205SMDE14404SMDE14405SMDE14406SMDE14407SMDE14408
Do Class
DOID:0014667DOID:0080015DOID:14566DOID:150DOID:225DOID:630DOID:7
Dis Ge Net
C0001193C0009207C0026363C0027809C0027831C0027832C0027859C0028326C0029294C0031900C0032897C0041409C0043346C0078982C0079541C0085409C0085859C0085860C0162531C0162532C0162533C0162566C0162569C0162678C0175691C0175693C0175694C0175699C0175701C0175704C0206729C0220658C0220662C0220666C0220668C0220695C0221060C0265202C0265205C0265213C0265222C0265224C0265226C0265233C0265235C0265240C0265251C0265252C0265261C0265306C0265313C0265338C0266667C0268135C0268136C0268138C0268140C0268141C0268323C0268328C0270972C0282643C0282644C0342288C0342859C0342861C0347915C0431124C0431362C0431363C0432066C0432201C0432246C0432283C0474740C0524582C0553586C0687154C0751037C0751038C0751039C0751374C0751617C0751690C0796004C0796085C0796280C0853240C0917817C1136041C1136042C1136043C1275078C1306247C1319466C1321427C1335929C1510455C1510460C1527404C1535942C1802395C1833691C1834235C1834523C1836756C1838625C1842124C1842462C1843181C1844663C1844696C1846009C1848410C1848411C1848862C1851443C1851996C1852085C1852510C1852597C1853099C1853100C1853102C1853120C1853623C1854469C1854664C1854678C1855722C1855840C1855868C1855869C1856871C1859312C1859452C1859977C1860224C1860823C1860991C1861238C1861922C1861923C1862471C1862472C1863370C1863389C1864436C1865070C1865143C1867440C1867968C1869114C1869115C1968561C1969057C1970808C2678312C2713347C2748608C2748918C2749602C2750732C2750787C2752041C2752147C2931277C2931426C2931480C2931482C2931588C2931888C2931895C2936913C3150970C3150971C3151187C3275495C3275558C3280146C3280203C3280214C3280526C3281201C3281235C3494489C3495417C3501846C3502214C3551443C3553247C3553248C3553249C3553785C3554247C3554415C3711749C3714941C3806565C3809233C3810265C3810283C3888212C4014528C4015388C4023411C4048809C4225164C4225212C4225280C4225282C4225288C4225363C4225398C4273131C4319565C4478716C4540036C4540040C4551474C4551475C4551476C4551480C4551484C4551510C4551602C4551851C4552002C4706613
Orphanet
1009241146114711511541231126314014221465146614861507151915201529155316862419219920522053208422029522839023222323235251025762616263226372645270127502792314795329228337734493453376380436144436182500524295327156057062763763864865759718772587911379273794794738088168188385173879034290650906529109159209325995159965966
Umls Sty
T019T033T047T191
Hpo Class
HP:0000152HP:0000478HP:0000598HP:0000707HP:0000924HP:0001574HP:0002664HP:0003011HP:0003549
Me Sh Class
C04C05C06C07C09C10C11C12C13C14C15C16C17C18C19C20C23F01F03
Etcm Disease
Aarskog-Scott SyndromeAblepharon-Macrostomia SyndromeAcromegaloid Facial Appearance SyndromeAdrenal Hypoplasia, Cytomegalic TypeApert SyndromeArthrogryposis, Distal, Type 10Arthrogryposis, Distal, Type 1aArthrogryposis, Distal, Type 1bArthrogryposis, Distal, Type 2eArthrogryposis, Distal, Type 5Arthrogryposis, Distal, Type 7Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal DysplasiaBarber-Say SyndromeBoomerang DysplasiaBranchiootic SyndromeBranchiootic Syndrome 1Campomelic DysplasiaCarpenter Syndrome 1Carpenter Syndrome 2Cerebrooculofacioskeletal Syndrome 2Cockayne SyndromeCoffin-Lowry SyndromeCoffin-Siris Syndrome 4Coproporphyria, HereditaryCornelia De Lange SyndromeCornelia De Lange Syndrome 1Cornelia De Lange Syndrome 2Cornelia De Lange Syndrome 3Craniofacial-Deafness-Hand SyndromeCraniofrontonasal SyndromeCurry-Jones SyndromeDubowitz SyndromeFraser Syndrome 1Fraser Syndrome 2Fraser Syndrome 3Greig Cephalopolysyndactyly SyndromeHemifacial MicrosomiaHoloprosencephalyHypertelorism, Teebi TypeHypoparathyroidism-Retardation-Dysmorphism SyndromeImmunodysregulation, Polyendocrinopathy, and Enteropathy, X-LinkedIntrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes SyndromeIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital AnomaliesKabuki Syndrome 1Kabuki Syndrome 2Langer Mesomelic DysplasiaLeopard SyndromeLeopard Syndrome 1Leopard Syndrome 3Lethal Congenital Contracture Syndrome 1Mandibulofacial Dysostosis, Guion-Almeida TypeMarshall SyndromeMicrocephalic Osteodysplastic Primordial Dwarfism, Type IMicrocephalic Osteodysplastic Primordial Dwarfism, Type IiMicrocephalic Primordial Dwarfism-Insulin Resistance SyndromeMicrocephaly and Chorioretinopathy, Autosomal Recessive, 2Moebius SyndromeMohr SyndromeMuenke SyndromeMultiple Pterygium Syndrome, Lethal Type
Tcmbank Disease
101610230104081063810901103111281164311650117921180118131198312368124561247312505125861259112705127861294013208133213328135671383414314446148715022150551521615801583615870160291621216772170351719817296173361749817569181041815718281870918711886018920189441903519088191101929519517196119627199142002020114202222029620431206392066020678208312092020935210592109521537217902180921828219682206522122147226042276228932310023313233282337323412343823562236062366423795239092404240882420242822441524598248392498225044251082526525407254962566425912600826136262265692663626840269502699270227522752727692797279982822428300284412870928713288472894629073291232921829368295012965029701298312993830030211308313091431040311693142314413157831637316453172531899322733231323513243451359838064172427443245214662472851455236524155145861588060246071616061736436659566466712677468036845730873377621773977447773789479557970810181381348156836383678428882389508974899890149032910694499575973897709935
Itcmdb Generated
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Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Aarskog-Scott Syndrome Details pageDisease Ablepharon-Macrostomia Syndrome Details pageDisease Acromegaloid Facial Appearance Syndrome Details pageDisease Adrenal Hypoplasia, Cytomegalic Type Details pageDisease Apert Syndrome Details pageDisease Arthrogryposis, Distal, Type 10 Details pageDisease Arthrogryposis, Distal, Type 1a Details pageDisease Arthrogryposis, Distal, Type 1b Details pageDisease Arthrogryposis, Distal, Type 2e Details pageDisease Arthrogryposis, Distal, Type 5 Details pageDisease Arthrogryposis, Distal, Type 7 Details pageDisease Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia Details pageDisease Barber-Say Syndrome Details pageDisease Boomerang Dysplasia Details pageDisease Branchiootic Syndrome 1 Details pageDisease Branchiootic Syndrome Details pageDisease Campomelic Dysplasia Details pageDisease Carpenter Syndrome 1 Details pageDisease Carpenter Syndrome 2 Details pageDisease Cerebrooculofacioskeletal Syndrome 2 Details pageDisease Cockayne Syndrome Details pageDisease Coffin-Lowry Syndrome Details pageDisease Coffin-Siris Syndrome 4 Details pageDisease Coproporphyria, Hereditary Details pageDisease Cornelia De Lange Syndrome 1 Details pageDisease Cornelia De Lange Syndrome 2 Details pageDisease Cornelia De Lange Syndrome 3 Details pageDisease Cornelia De Lange Syndrome Details pageDisease Craniofacial-Deafness-Hand Syndrome Details pageDisease Craniofrontonasal Syndrome Details pageDisease Curry-Jones Syndrome Details pageDisease Dubowitz Syndrome Details pageDisease Fraser Syndrome 1 Details pageDisease Fraser Syndrome 2 Details pageDisease Fraser Syndrome 3 Details pageDisease Greig Cephalopolysyndactyly Syndrome Details pageDisease Hemifacial Microsomia Details pageDisease Holoprosencephaly Details pageDisease Hypertelorism, Teebi Type Details pageDisease Hypoparathyroidism-Retardation-Dysmorphism Syndrome Details pageDisease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Details pageDisease Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome Details pageDisease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Details pageDisease Kabuki Syndrome 1 Details pageDisease Kabuki Syndrome 2 Details pageDisease Langer Mesomelic Dysplasia Details pageDisease Leopard Syndrome 1 Details pageDisease Leopard Syndrome 3 Details pageDisease Leopard Syndrome Details pageDisease Lethal Congenital Contracture Syndrome 1 Details pageDisease Mandibulofacial Dysostosis, Guion-Almeida Type Details pageDisease Marshall Syndrome Details pageDisease Microcephalic Osteodysplastic Primordial Dwarfism, Type I Details pageDisease Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Details pageDisease Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome Details pageDisease Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 Details pageDisease Moebius Syndrome Details pageDisease Mohr Syndrome Details pageDisease Muenke Syndrome Details pageDisease Multiple Pterygium Syndrome, Lethal Type Details page
Do Class Name
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; syndrome; physical disorderdisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; disease of cellular proliferationgenetic disease; disease of anatomical entity; disease of mental healthgenetic disease; disease of anatomical entity; syndromegenetic disease; disease of anatomical entity; syndrome; disease of mental healthgenetic disease; disease of anatomical entity; syndrome; physical disordergenetic disease; syndromegenetic disease; syndrome; disease of mental healthsyndrome
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of head or neckAbnormality of the eyeAbnormality of the integument; Abnormality of the nervous system; NeoplasmAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculatureAbnormality of the nervous system; NeoplasmAbnormality of the nervous system; Neoplasm; Abnormality of the earAbnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculatureNeoplasm
Link Disease Id
113.02453.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; disease of cellular proliferationdisease of anatomical entity; genetic disease; physical disorder; syndromedisease of anatomical entity; genetic disease; syndromedisease of anatomical entity; physical disorder; syndromedisease of mental health; disease of anatomical entity; genetic diseasedisease of mental health; disease of anatomical entity; genetic disease; syndromedisease of mental health; genetic diseasedisease of mental health; syndrome; genetic diseasegenetic diseasegenetic disease; disease of metabolismsyndromesyndrome; genetic disease
Hpo Disease Class
Abnormality of connective tissue; Abnormality of the skeletal system; Abnormality of the musculatureAbnormality of head or neckAbnormality of head or neck; Abnormality of the musculature; Abnormality of the nervous systemAbnormality of the ear; Neoplasm; Abnormality of the nervous systemAbnormality of the eyeAbnormality of the nervous systemAbnormality of the nervous system; Abnormality of the integument; NeoplasmNeoplasmNeoplasm; Abnormality of the nervous system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFindingNeoplastic Process
Basic Information
Disease Name
Aarskog-Scott Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Ablepharon-Macrostomia Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Name
Acromegaloid Facial Appearance Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Oral diseases
Disease Name
Adrenal Hypoplasia, Cytomegalic Type
Global Category
Rare diseases
Anatomical Category
Endocrine diseases;Reproductive diseases
Disease Name
Apert Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Arthrogryposis, Distal, Type 10
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Arthrogryposis, Distal, Type 1a
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Arthrogryposis, Distal, Type 1b
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Arthrogryposis, Distal, Type 2e
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Arthrogryposis, Distal, Type 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Arthrogryposis, Distal, Type 7
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases;Oral diseases;Respiratory diseases;Skin diseases;Smell/Taste diseases
Disease Name
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Reproductive diseases
Disease Name
Barber-Say Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Skin diseases
Disease Name
Boomerang Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Branchiootic Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Nephrological diseases
Disease Name
Branchiootic Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Nephrological diseases
Disease Name
Campomelic Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Endocrine diseases;Reproductive diseases
Disease Name
Carpenter Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Name
Carpenter Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Name
Cerebrooculofacioskeletal Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Name
Cockayne Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Name
Coffin-Lowry Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Neuronal diseases
Disease Name
Coffin-Siris Syndrome 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Mental diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Coproporphyria, Hereditary
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cornelia De Lange Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Muscle diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Cornelia De Lange Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Muscle diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Cornelia De Lange Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Muscle diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Cornelia De Lange Syndrome 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Muscle diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Craniofacial-Deafness-Hand Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Smell/Taste diseases
Disease Name
Craniofrontonasal Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Curry-Jones Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Gastrointestinal Diseases;Neuronal diseases;Skin diseases
Disease Name
Dubowitz Syndrome
Global Category
Cancer diseases;Fetal diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases;Skin diseases
Disease Name
Fraser Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Fraser Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Fraser Syndrome 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Nephrological diseases
Disease Name
Greig Cephalopolysyndactyly Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Name
Hemifacial Microsomia
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Holoprosencephaly
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Neuronal diseases
Disease Name
Hypertelorism, Teebi Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Mental diseases;Neuronal diseases
Disease Name
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Gastrointestinal Diseases;Immune diseases
Disease Name
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Name
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Endocrine diseases
Disease Name
Kabuki Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Kabuki Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Langer Mesomelic Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Leopard Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Reproductive diseases;Skin diseases
Disease Name
Leopard Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Reproductive diseases;Skin diseases
Disease Name
Leopard Syndrome 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Reproductive diseases;Skin diseases
Disease Name
Lethal Congenital Contracture Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Mandibulofacial Dysostosis, Guion-Almeida Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Marshall Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Skin diseases;Smell/Taste diseases
Disease Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Global Category
Rare diseases
Anatomical Category
Endocrine diseases;Reproductive diseases
Disease Name
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Name
Moebius Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Mohr Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Neuronal diseases;Oral diseases
Disease Name
Muenke Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Multiple Pterygium Syndrome, Lethal Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Respiratory diseases
Disease Definition
3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) aAarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coAntley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoAutoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidAutosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities oBarber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossifBranchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead oCerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by tCoffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectCongenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvariuCurry-Jones syndrome is a form of syndromic craniosynostosis (see this term), characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial ageDigitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with noDistal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limDubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectuaFraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joinFrontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three memGordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrGreig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.HPO2016_07_04:A bilateral vestibular Schwannoma (acoustic neurinoma). [HPO:curators]HPO2016_07_04:Facial diplegia (that is, bilateral facial palsy) with congenital onset. [HPO:curators]Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thickJABL99:A syndrome involving craniofacial, oral, and osseous structures characterized by short stature, unusual facies, cleft palate, and multiple skeletal malformations. Craniofacial abnormalities are generally milder in carrier females than those in males. Psychomotor development is usually normal but some patients have been reported as mentally retarded.JABL99:Abnormalities of the orodental, facial, renal, and digital structures occurring in various combinations and frequently associated with retarded mental development. Patients in the original report were all females, except for the case with Klinefelter syndromeJABL99:Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.MSH2017_2016_08_12:A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.MSH2017_2016_08_12:A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1).|JABL99:A rare syndrome originally described as comprising pulmonary valvular stenosis, cafe-au-lait spots, dull intelligence, and short stature. The phenotype has been later expanded to include macrocephaly and Lisch nodules in the majority of cases, and neurofibromatosis in one-third of the affected persons. Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome (the neurofibromatosis-Noonan syndrome).MSH2017_2016_08_12:The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.MSH2017_2016_08_12:Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletMicrocephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rarMoebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing imMuenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental deNCI2016_02D:A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.|MSH2017_2016_08_12:Mandibulofacial dysostosis with congenital eyelid dermoids.|JABL99:A complex syndrome characterized mainly by aural, oral, and mandibular developmental anomalies which may vary from mild to severe and frequently involve one side of the body. Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated. Orofacial anomalies differ from those in mandibulofacial dysostosis which are usually symmetrical. The presence of hypertelorism may indicate aneuploidy.NCI2016_02D:A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme.|MSH2017_2016_08_12:An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.NCI2016_02D:A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.|MSH2017_2016_08_12:Congenital craniostenosis with syndactyly.NCI2016_02D:A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.|MSH2017_2016_08_12:An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)|MEDLINEPLUS_20151021:<p>Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.</p> <p>Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include</p> <ul> <li>Short stature</li> <li>Poor motor skills</li> <li>Weight gain </li> <li>Underdeveloped sex organs</li> <li>Mild intellectual and learning disabilities</li> </ul> <p>There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives.</p> <p >NIH: National Institute of Child Health and Human Development</p>|JABL99:A syndrome characterized at birth by the lack of spontaneous movements and protective reflexes, thus giving an appearance of severe brain damage. Profound hypotonia may cause asphyxia. Sucking and swallowing reflexes are absent or decreased. Deficient thermoregulation, amyotonia, and hypogonadism are usually associated. After a few weeks or months, the affected infants become more responsive and more alert. Areflexia disappears gradually but hypotonia may persist longer. This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity, hypotonia, hyperlaxity, delayed bone maturation, and multiple orofacial and other disoders. There is a tendency to develop diabetes mellitus and cardiac failure in some patients. Pain insensitivity is common. Prader-Willi habitus associated with osteopenia and camptodactyly is known as the Urban-Rogers-Meyer syndrome.|CSP2006:congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15.NCI2016_02D:A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.|MSH2017_2016_08_12:An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.NCI2016_02D:A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.|JABL99:A syndrome of proportionate dwarfism, delayed mental development, microcephaly, and typical facial appearance marked by a birdlike protrusion of midfacial structures.NCI2016_02D:A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.|JABL99:The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. Intelligence is usually normal but delayed physical and mental development was noted in about 18%.NCI2016_02D:A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.|JABL99:A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.NCI2016_02D:A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.|MSH2017_2016_08_12:Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.|HPO2016_07_04:Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. [HPO:probinson]NCI2016_02D:A rare genetic syndrome characterized by autoantibodies production against more than one endocrine organ. The range of endocrinopathies includes hypoparathyroidism, adrenal insufficiency, hypogonadism, type 1 diabetes mellitus and hypothyroidism.|MSH2017_2016_08_12:Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organsNCI2016_02D:A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.|MSH2017_2016_08_12:Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.|JABL99:A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait spots, digital anomalies, hip or elbow dislocations, and other abnormalities.NCI2016_02D:A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.|MSH2017_2016_08_12:A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)|JABL99:A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional Sandifer anomaly (abnormal body posturing, torticollis, and gastro-esophageal reflux with or without a hiatus hernia). The phenotype is variable and the affected infants may show different clusters of abnormalities. A proposed classification identifies three distinct categories of this syndrome: Type I (classic) is marked by prenatal growth deficiency becoming more severe after birth, moderate to profound psychomotor retardation, and severe malformations usually leading to disability or death; Type II (mild) is characterized by facial and skeletal abnormalities which are similar to those in Type I but are much less severe, moderate pre- and postnatal growth retardation, and the absence of major malformations; and Type III in which phenotypic manifestations are related to chromosomal aneuploidies or teratogenic factors. The syndrome was first observed in Amsterdam, hence its synonyms Amsterdam dwarf, Amsterdam type, and typus amstelodamensis. Manifestations of duplication of the long arm of chromosome 3 are similar to those in de Lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, while craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q). Most de Lange syndrome patients have normal chromosomes.NCI2016_02D:A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy.NCI2016_02D:A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.|JABL99:A multiple abnormality syndrome marked by characteristic facies with long palpebral fissures with eversion of the lower eyelids similar to the make-up of actors of Kabuki, a traditional Japanese theatrical form. Additional cardinal features include skeletal defects, abnormal dermatoglyphics, mental retardation, and postnatal growth deficiency. Less commonly occurring are visceral defects, susceptibility to infection, and premature breast development in girls.NCI2016_02D:A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.|MSH2017_2016_08_12:A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)|MEDLINEPLUS_20151021:<p>An acoustic neuroma is a <a href='https://www.nlm.nih.gov/medlineplus/benigntumors.html'>benign tumor</a> that develops on the nerve that connects the ear to the brain. The tumor usually grows slowly. As it grows, it presses against the hearing and balance nerves. At first, you may have no symptoms or mild symptoms. They can include</p> <ul> <li> Loss of hearing on one side </li> <li> Ringing in ears</li> <li> Dizziness and balance problems</li> </ul> <p>The tumor can also eventually cause numbness or paralysis of the face. If it grows large enough, it can press against the brain, becoming life-threatening.</p> <p>Acoustic neuroma can be difficult to diagnose, because the symptoms are similar to those of middle ear problems. Ear exams, hearing tests, and scans can show if you have it.</p> <p>If the tumor stays small, you may only need to have it checked regularly. If you do need treatment, surgery and radiation are options.</p> <p>If the tumors affect both hearing nerves, it is often because of a genetic disorder called <a href='https://www.nlm.nih.gov/medlineplus/neurofibromatosis.html'>neurofibromatosis</a>.</p> <p >NIH: National Institute on Deafness and Communication Disorders</p>|HPO2016_07_04:A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. [HPO:probinson]NCI2016_02D:A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally.|MSH2017_2016_08_12:A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)NCI2016_02D:An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.|JABL99:Congenital muscular hypertrophy, extrapyramidal disorders, mental deficiency, and other variable defects.NCI2016_02D:An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight.|MSH2017_2016_08_12:An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.NCI2016_02D:An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.NCI2016_02D:An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.NCI2016_02D:An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.|JABL99:Mental retardation with below average height and weight, microcephaly, characteristic facies, widely spaced teeth, and brachycephaly.|JABL99:Craniosynostosis with craniofacial dysmorphism, finger and toe abnormalities, heart defects, growth retardation, and other disorders.NCI2016_02D:The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.|HPO2016_07_04:Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. [DDD:ncarter]NCI2016_NCI-GLOSS_1602D:A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.|NCI2016_02D:An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.|MSH2017_2016_08_12:A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.|JABL99:A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as Type 1 or A (onset at age 2 years or later), Type 2 or B (named later COMFAK, q.v.), and Type 3 or C (considered as a part of xeroderma pigmentosum complementation group B).NCI2016_NCI-GLOSS_1602D:A genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may cause loss of speech, eye movement, and the ability to swallow.|NCI2016_02D:An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.|MSH2017_2016_08_12:An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.NCI2016_NCI-GLOSS_1602D:A tumor of the peripheral nervous system that arises in the nerve sheath (protective covering). It is almost always benign, but rare malignant schwannomas have been reported.|NCI2016_CDISC_1602D:A benign neoplasm of the peripheral nervous system composed of well-differentiated Schwann cells.|NCI2016_02D:A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.|MSH2017_2016_08_12:A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)|HPO2016_07_04:A benign nerve sheath tumor composed of Schwann cells. [HPO:sdoelken]|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous system|CHV2011_02:a benign tumor that originates from the nervous systemNance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1; see this term) characterized by the combination of features of NF1, such as café-au-lait spots, Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pNoonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly describedOral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformationOsteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high aOtopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder (see this term), and is characterized by a generalized skeletal dysplasia, mild intellectual Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elboPierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cuSHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absSNOMEDCT_US_2016_09_01:An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).|SNOMEDCT_US_2016_09_01:An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).|JABL99:Fontonasal dysplasia, coronal craniosynostosis, grooved nails, mild mental deficiency, and various skeletal and soft tissue abnormalities.SNOMEDCT_US_2016_09_01:An autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.|SNOMEDCT_US_2016_09_01:An autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposisSNOMEDCT_US_2016_09_01:An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.|SNOMEDCT_US_2016_09_01:An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterised by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.SNOMEDCT_US_2016_09_01:An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.|SNOMEDCT_US_2016_09_01:An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.SNOMEDCT_US_2016_09_01:Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.|SNOMEDCT_US_2016_09_01:Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominentSheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small Sj？gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent foreheadTrichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalizedVariegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lenXeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 coXeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin canXeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological fea
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCardiovascular Diseases; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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 Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEndocrine System Diseases; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEndocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Male Urogenital Diseases; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases; Musculoskeletal DiseasesImmune System Diseases; Endocrine System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and SymptomsMental 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 Symptoms; Musculoskeletal DiseasesMental 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 DiseasesMental Disorders; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Endocrine System Diseases; 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 Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsNeoplasmsNeoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous 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; Musculoskeletal DiseasesNervous System Diseases; NeoplasmsNervous System Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNervous System Diseases; Otorhinolaryngologic Diseases; NeoplasmsNervous System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNutritional and Metabolic DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases; Immune System DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsStomatognathic 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
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal 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; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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; Otorhinolaryngologic Diseases; Hemic and Lymphatic 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; Endocrine System DiseasesImmune System Diseases; Endocrine System DiseasesNeoplasmsNeoplasms; Nervous System DiseasesNeoplasms; Nervous System Diseases; Otorhinolaryngologic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal 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; Endocrine 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; 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 DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological 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; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System 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; Endocrine 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; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFindingNeoplastic Process