DiseaseID 4390
干皮病
disease
Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.
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Disease: 1Experiment: 3Formula: 17Herb: 12Symptom: 12Target: 23Links: 68
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4390
- Core Entity Id
- 60731
- Source Entity Count
- 1
- Preferred Name
- Xeroderma
- Name Cn
- 干皮病
- Name Pinyin
- Gan Pi Bing
- Name En
- Xeroderma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesEndocrine System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesHemic and Lymphatic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesNeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; NeoplasmsStomatognathic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; syndromedisease of cellular proliferationgenetic diseasesyndromesyndrome; genetic disease
- Hpo Class
- Abnormality of blood and blood-forming tissuesAbnormality of limbs; Abnormality of the integumentAbnormality of the integumentNeoplasm; Abnormality of the integument
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System DiseasesHemic and Lymphatic DiseasesNeoplasmsNeoplasms; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases
- Hpo Class Name
- Abnormality of blood and blood-forming tissuesAbnormality of the integumentAbnormality of the integument; Abnormality of limbsAbnormality of the integument; Neoplasm
- Do Class Name
- disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; syndromedisease of cellular proliferationgenetic diseasegenetic disease; disease of anatomical entitygenetic disease; syndromesyndrome
- Disease Definition
- Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Xeroderma
Role
preferred
Name
Aase Syndrome
Role
preferred
Name
Acral Self-Healing Collodion Baby
Role
preferred
Name
Actinic Keratosis
Role
preferred
Name
Anemia, Congenital Dyserythropoietic, Type Ib
Role
preferred
Name
Anemia, Diamond-Blackfan
Role
preferred
Name
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Role
preferred
Name
Autosomal Dominant Cutis Laxa
Role
preferred
Name
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Role
preferred
Name
Bathing Suit Ichthyosis
Role
preferred
Name
Blackfan-Diamond Anemia
Role
preferred
Name
Collodion Fetus
Role
preferred
Name
Congenital Dyserythropoietic Anemia
Role
preferred
Name
Congenital Ichthyosis
Role
preferred
Name
Congenital Non-Bullous Ichthyosiform Erythroderma
Role
preferred
Name
Cutis Laxa
Role
preferred
Name
Cutis Laxa, Autosomal Dominant 1
Role
preferred
Name
Cutis Laxa, Autosomal Dominant 2
Role
preferred
Name
Cutis Laxa, Autosomal Dominant 3
Role
preferred
Name
Cutis Laxa, Autosomal Recessive, Type Iia
Role
preferred
Name
Cutis Laxa, Autosomal Recessive, Type Iib
Role
preferred
Name
Cutis Laxa, Autosomal Recessive, Type Iiib
Role
preferred
Name
Darier Disease
Role
preferred
Name
Darier Disease, Acral Hemorrhagic Type
Role
preferred
Name
Darier Disease, Segmental
Role
preferred
Name
Darier-White Disease
Role
preferred
Name
Diamond-Blackfan Anemia 1
Role
preferred
Name
Diamond-Blackfan Anemia 10
Role
preferred
Name
Diamond-Blackfan Anemia 11
Role
preferred
Name
Diamond-Blackfan Anemia 12
Role
preferred
Name
Diamond-Blackfan Anemia 13
Role
preferred
Name
Diamond-Blackfan Anemia 4
Role
preferred
Name
Diamond-Blackfan Anemia 5
Role
preferred
Name
Diamond-Blackfan Anemia 7
Role
preferred
Name
Diamond-Blackfan Anemia 8
Role
preferred
Name
Diamond-Blackfan Anemia 9
Role
preferred
Name
Diffuse Palmoplantar Keratoderma, Bothnian Type
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Dominant 2
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Dominant 3
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Dominant 6
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive 1
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive 2
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive 5
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive 6
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive, 4
Role
preferred
Name
Dyskeratosis Congenita, X-Linked
Role
preferred
Name
Epidermolytic Palmoplantar Keratoderma
Role
preferred
Name
Epidermolytic Palmoplantar Keratoderma Of Vorner
Role
preferred
Name
Epidermolytic Palmoplantar Keratoderma Vorner Type
Role
preferred
Name
Fanconi Anemia
Role
preferred
Name
Fanconi Anemia, Complementation Group B
Role
preferred
Name
Fanconi Anemia, Complementation Group C
Role
preferred
Name
Fanconi Anemia, Complementation Group D2
Role
preferred
Name
Fanconi Anemia, Complementation Group E
Role
preferred
Name
Fanconi Anemia, Complementation Group F
Role
preferred
Name
Fanconi Anemia, Complementation Group I
Role
preferred
Name
Fanconi Anemia, Complementation Group P
Role
preferred
Name
Focal Dermal Hypoplasia
Role
preferred
Name
Hereditary Acrokeratotic Poikiloderma, Weary Type
Role
preferred
Name
Hoyeraal-Hreidarsson Syndrome
Role
preferred
Name
Ichthyoses
Role
preferred
Name
Ichthyosiform Erythroderma, Congenital
Role
preferred
Name
Ichthyosis Congenita Ii
Role
preferred
Name
Ichthyosis Vulgaris
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 1
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 10
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 2
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 3
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 6
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 8
Role
preferred
Name
Ichthyosis, Congenital, Autosomal Recessive 9
Role
preferred
Name
Keratoderma Palmoplantar, Punctate Type 2
Role
preferred
Name
Keratoderma, Palmoplantar, Diffuse
Role
preferred
Name
Keratoderma, Palmoplantar, Epidermolytic
Role
preferred
Name
Keratosis Palmoplantaris Striata Ii
Role
preferred
Name
Mal De Meleda
Role
preferred
Name
Nevus Elasticus
Role
preferred
Name
Non-Epidermolytic Palmoplantar Keratoderma
Role
preferred
Name
Palmoplantar Keratoderma And Congenital Alopecia 1
Role
preferred
Name
Palmoplantar Keratoderma, Epidermolytic
Role
preferred
Name
Palmoplantar Keratoderma, Nagashima Type
Role
preferred
Name
Palmoplantar Keratoderma, Nonepidermolytic
Role
preferred
Name
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Role
preferred
Name
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Role
preferred
Name
Porokeratosis
Role
preferred
Name
Porokeratosis 7, Multiple Types
Role
preferred
Name
Porokeratosis 8, Disseminated Superficial Actinic Type
Role
preferred
Name
Porokeratosis, Linear Type
Role
preferred
Name
Progressive Symmetric Erythrokeratodermia
Role
preferred
Name
Pseudoxanthoma Elasticum, Forme Fruste
Role
preferred
Name
Pseudoxanthoma Elasticum, Heterozygous
Role
preferred
Name
Pseudoxanthoma Elasticum, Incomplete
Role
preferred
Name
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Role
preferred
Name
Punctate Palmoplantar Keratoderma Type 1
Role
preferred
Name
Rothmund-Thomson Syndrome
Role
preferred
Name
Rothmund-Thomson Syndrome Type 2
Role
preferred
Name
Self-Improving Collodion Baby
Role
preferred
Name
Shwachman-Diamond Syndrome
Role
preferred
Name
Skin Creases, Congenital Symmetric Circumferential, 2
Role
preferred
Name
X-Linked Dyskeratosis Congenita
Role
preferred
Name
Aase Smith Syndrome 2
Role
preferred
Name
Abnormal Dermatoglyphic Pattern
Role
preferred
Name
Abnormal Palmar Creases
Role
preferred
Name
Acantholytic Dyskeratotic Epidermal Nevus
Role
preferred
Name
Acrokeratosis Verruciformis of Hopf
Role
preferred
Name
Actinic Cheilitis
Role
preferred
Name
Actinic Porokeratosis
Role
preferred
Name
Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities
Role
preferred
Name
Alopecia Congenita Keratosis Palmoplantaris
Role
preferred
Name
Amegakaryocytic Thrombocytopenia, Congenital
Role
preferred
Name
Anemia, Diamond-Blackfan, 2
Role
preferred
Name
Anemia, Diamond-Blackfan, 3
Role
preferred
Name
Ataxia-Pancytopenia Syndrome
Role
preferred
Name
Autosomal Recessive Cutis Laxa Type 1
Role
preferred
Name
Benign Chronic Pemphigus
Role
preferred
Name
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Role
preferred
Name
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
Role
preferred
Name
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Role
preferred
Name
Cednik Syndrome
Role
preferred
Name
Clouston Syndrome
Role
preferred
Name
Congenital Accessory Skin Tag
Role
preferred
Name
Congenital Dyserythropoietic Anemia, Type I
Role
preferred
Name
Congenital Dyserythropoietic Anemia, Type Ii
Role
preferred
Name
Congenital Dyserythropoietic Anemia, Type Iii
Role
preferred
Name
Congenital Erythroid Hypoplasia
Role
preferred
Name
Congenital Hypoplastic Anemia
Role
preferred
Name
Congenital Nonbullous Ichthyosiform Erythroderma
Role
preferred
Name
Constitutional Aplastic Anemia
Role
preferred
Name
Cutis Laxa, Autosomal Dominant
Role
preferred
Name
Cutis Laxa, Autosomal Recessive
Role
preferred
Name
Cutis Laxa, Autosomal Recessive, Type I
Role
preferred
Name
Cutis Laxa, Recessive, Type I
Role
preferred
Name
DIAMOND-BLACKFAN ANEMIA 17
Role
preferred
Name
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Role
preferred
Name
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Role
preferred
Name
De Barsy Syndrome
Role
preferred
Name
Disseminated Superficial Actinic Porokeratosis
Role
preferred
Name
Dyskeratosis Congenita
Role
preferred
Name
Dyskeratosis Congenita, Autosomal Recessive 7
Role
preferred
Name
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
Role
preferred
Name
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
Role
preferred
Name
Erythrokeratodermia Variabilis
Role
preferred
Name
Erythrokeratodermia Variabilis Et Progressiva 4
Role
preferred
Name
FANCONI ANEMIA, COMPLEMENTATION GROUP U
Role
preferred
Name
Familial Benign Pemphigus
Role
preferred
Name
Focal Facial Dermal Dysplasia Type Iii
Role
preferred
Name
Geroderma Osteodysplastica
Role
preferred
Name
Greither Disease
Role
preferred
Name
Gronblad-Strandberg Syndrome
Role
preferred
Name
Harlequin Fetus
Role
preferred
Name
Harlequin Type Ichthyosis
Role
preferred
Name
Hoyeraal Hreidarsson Syndrome
Role
preferred
Name
Hyperkeratosis of The Palms And Soles And Esophageal Papillomas
Role
preferred
Name
Hyperkeratosis, Epidermolytic
Role
preferred
Name
ICHTHYOSIS, LAMELLAR, 3
Role
preferred
Name
Ichthyosis Congenita I
Role
preferred
Name
Ichthyosis, Nonlamellar And Nonerythrodermic, Congenital, Autosomal Recessive
Role
preferred
Name
Inherited Keratosis Palmaris Et Plantaris
Role
preferred
Name
Keratoderma Hereditarium Mutilans
Role
preferred
Name
Keratoderma, Palmoplantar
Role
preferred
Name
Keratosis Follicularis
Role
preferred
Name
Keratosis Follicularis [Darier-White]
Role
preferred
Name
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Role
preferred
Name
Keratosis Palmaris Et Plantaris Familiaris
Role
preferred
Name
Keratosis Palmoplantaris Papulosa
Role
preferred
Name
Keratosis Palmoplantaris Striata 3
Role
preferred
Name
Keratosis of Greither
Role
preferred
Name
Knuckle Pads, Leukonychia, And Sensorineural Deafness
Role
preferred
Name
Lamellar Ichthyosis
Role
preferred
Name
Lamellar Ichthyosis, Type 2
Role
preferred
Name
Macs Syndrome
Role
preferred
Name
Meleda Disease
Role
preferred
Name
Michelin Tire Baby Syndrome
Role
preferred
Name
Other Specified Congenital Malformations of Skin
Role
preferred
Name
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
Role
preferred
Name
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
Role
preferred
Name
Palmoplantar Keratoderma Nagashima Type
Role
preferred
Name
Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads (Disorder)
Role
preferred
Name
Palmoplantar Keratosis
Role
preferred
Name
Papillon-Lefevre Syndrome
Role
preferred
Name
Porokeratosis Of Mibelli
Role
preferred
Name
Porokeratosis, Disseminated Superficial Actinic
Role
preferred
Name
Porokeratosis, Disseminated Superficial Actinic, 3
Role
preferred
Name
Porokeratosis, Linear
Role
preferred
Name
Porokeratosis, Palmoplantar
Role
preferred
Name
Pseudoxanthoma Elasticum
Role
preferred
Name
SHWACHMAN-DIAMOND SYNDROME 1
Role
preferred
Name
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Role
preferred
Name
Sch？Pf-Schulz-Passarge Syndrome
Role
preferred
Name
Self-Healing Collodion Baby
Role
preferred
Name
Shwachman Syndrome
Role
preferred
Name
Striate Palmoplantar Keratoderma
Role
preferred
Name
Vohwinkel Syndrome, Variant Form
Role
preferred
Name
'Harlequin Fetus'
Role
alias
Name
AASE-SMITH SYNDROME II
Role
alias
Name
ADCL
Role
alias
Name
ADCL1
Role
alias
Name
ADCL2
Role
alias
Name
ADCL3
Role
alias
Name
ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC
Role
alias
Name
ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND
Role
alias
Name
ARCI1
Role
alias
Name
ARCI10
Role
alias
Name
ARCI2
Role
alias
Name
ARCI3
Role
alias
Name
ARCI6
Role
alias
Name
ARCI8
Role
alias
Name
ARCI9
Role
alias
Name
ARCL2
Role
alias
Name
ARCL2A
Role
alias
Name
ARCL2B
Role
alias
Name
ARCL3B
Role
alias
Name
AREGENERATIVE ANEMIA, CHRONIC CONGENITAL
Role
alias
Name
Aase-Smith II Syndrome
Role
alias
Name
Abnormal Dermatoglyphics
Role
alias
Name
Abnormal Fingerprints
Role
alias
Name
Abnormality of The Palm Lines
Role
alias
Name
Abnormality of The Palmar Creases
Role
alias
Name
Acral SHCB
Role
alias
Name
Acrokeratosis Verruciformis
Role
alias
Name
Anemia, Congenital Dyserythropoietic
Role
alias
Name
Anemia, Congenital Dyserythropoietic, Type I
Role
alias
Name
Anemia, Congenital Dyserythropoietic, Type Ia
Role
alias
Name
Anemia, Congenital Dyserythropoietic, Type Ii
Role
alias
Name
Anemia, Congenital Dyserythropoietic, Type Iii
Role
alias
Name
Anemia, Congenital Hypoplastic
Role
alias
Name
Anemia, Dyserythropoietic Congenital, Type Iii
Role
alias
Name
Anemia, Dyserythropoietic, Congenital
Role
alias
Name
Anemia, Dyserythropoietic, Congenital, Type Ii
Role
alias
Name
Anemia, Hypoplastic, Congenital
Role
alias
Name
Arcl1A
Role
alias
Name
Autosomal Dominant Cutis Laxa 1
Role
alias
Name
Autosomal Dominant Cutis Laxa 2
Role
alias
Name
Autosomal Dominant Cutis Laxa 3
Role
alias
Name
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type
Role
alias
Name
Autosomal Dominant Dyskeratosis Congenita 2
Role
alias
Name
Autosomal Dominant Dyskeratosis Congenita 3
Role
alias
Name
Autosomal Dominant Dyskeratosis Congenita 6
Role
alias
Name
Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 1
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 10
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 2
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 3
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 4A
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 4B
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 5
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 6
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 7
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 8
Role
alias
Name
Autosomal Recessive Congenital Ichthyosis 9
Role
alias
Name
Autosomal Recessive Cutis Laxa Type I
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Ia
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Ib
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Ii Classic Type
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iia
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iib
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iic
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iid
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iii
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iiia
Role
alias
Name
Autosomal Recessive Cutis Laxa Type Iiib
Role
alias
Name
Autosomal Recessive Dyskeratosis Congenita 1
Role
alias
Name
Autosomal Recessive Dyskeratosis Congenita 2
Role
alias
Name
Autosomal Recessive Dyskeratosis Congenita 5
Role
alias
Name
Autosomal Recessive Dyskeratosis Congenita 6
Role
alias
Name
BDS
Role
alias
Name
BLACKFAN-DIAMOND SYNDROME
Role
alias
Name
BSI
Role
alias
Name
Benign Familial Pemphigus
Role
alias
Name
Bullous Congenital Ichthyosiform Erythroderma
Role
alias
Name
Buschke-Fischer-Brauer Syndrome
Role
alias
Name
CDA, TYPE Ib
Role
alias
Name
CDAN1B
Role
alias
Name
CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA
Role
alias
Name
CIE
Role
alias
Name
COLLODION BABY, SELF-HEALING
Role
alias
Name
CSCSC2
Role
alias
Name
CUTIS LAXA WITH BONE DYSTROPHY
Role
alias
Name
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
Role
alias
Name
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY
Role
alias
Name
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
Role
alias
Name
CUTIS LAXA WITH PROGEROID FEATURES
Role
alias
Name
CUTIS LAXA, DEBRE TYPE
Role
alias
Name
Chalazoderma
Role
alias
Name
Collodion Baby
Role
alias
Name
Congenital Bullous Ichthyosiform Erythroderma
Role
alias
Name
Congenital Dyserythropoietic Anaemia
Role
alias
Name
Congenital Dyserythropoietic Anemia Type I
Role
alias
Name
Congenital Dyserythropoietic Anemia Type Ia
Role
alias
Name
Congenital Dyserythropoietic Anemia Type Ib
Role
alias
Name
Congenital Dyserythropoietic Anemia Type Ii
Role
alias
Name
Congenital Dyserythropoietic Anemia Type Iii
Role
alias
Name
Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Role
alias
Name
Congenital Ichthyosiform Erythroderma
Role
alias
Name
Congenital Ichthyosis, Unspecified
Role
alias
Name
Congenital Lamellar Ichthyosis
Role
alias
Name
Congenital Non-Bullous Ichthyosis
Role
alias
Name
Congenital PRCA
Role
alias
Name
Congenital Poikiloderma With Bullae, Weary Type
Role
alias
Name
Congenital Pure Red Cell Aplasia
Role
alias
Name
Constitutional Aplastic Anaemia
Role
alias
Name
Cutaneous Laxity
Role
alias
Name
Cutis Laxa, Autosomal Recessive, Type Ia
Role
alias
Name
Cutis Laxa, Autosomal Recessive, Type Iiia
Role
alias
Name
Cutis Laxa, Corneal Clouding, And Mental Retardation
Role
alias
Name
DAR
Role
alias
Name
DBA
Role
alias
Name
DBA1
Role
alias
Name
DBA10
Role
alias
Name
DBA11
Role
alias
Name
DBA12
Role
alias
Name
DBA13
Role
alias
Name
DBA4
Role
alias
Name
DBA5
Role
alias
Name
DBA7
Role
alias
Name
DBA8
Role
alias
Name
DBA9
Role
alias
Name
DD
Role
alias
Name
DE BARSY SYNDROME B
Role
alias
Name
DESQUAMATION OF NEWBORN
Role
alias
Name
DHOF
Role
alias
Name
DKCA3
Role
alias
Name
DKCA4
Role
alias
Name
DKCA6
Role
alias
Name
DKCB1
Role
alias
Name
DKCB2
Role
alias
Name
DKCB5
Role
alias
Name
DKCB6
Role
alias
Name
DKCB7
Role
alias
Name
DKCX
Role
alias
Name
Darier-Gottron Disease
Role
alias
Name
Dermatochalasia
Role
alias
Name
Dermatoglyphic Abnormalities
Role
alias
Name
Dermatomegaly
Role
alias
Name
Diamond-Blackfan Anemia
Role
alias
Name
Diamond-Blackfan Anemia 2
Role
alias
Name
Diamond-Blackfan Anemia 3
Role
alias
Name
Diamond-Blackfan Anemia 6
Role
alias
Name
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type
Role
alias
Name
Diffuse Erythrodermic Palmoplantar Keratoderma, V？rner Type
Role
alias
Name
Diffuse Palmoplantar Keratoderma
Role
alias
Name
EPPK
Role
alias
Name
ERYTHROGENESIS IMPERFECTA
Role
alias
Name
Elastolysis
Role
alias
Name
Epidermolytic Hyperkeratosis
Role
alias
Name
Epidermolytic Palmoplant
Role
alias
Name
Epidermolytic Palmoplantar Keratoderma Of Voerner
Role
alias
Name
Erythrodermic Ichthyosis
Role
alias
Name
Erythrokeratodermia Progressiva Symmetrica
Role
alias
Name
Evans Syndrome Associated With Pri
Role
alias
Name
FA2
Role
alias
Name
FA3
Role
alias
Name
FA4
Role
alias
Name
FAC
Role
alias
Name
FACB
Role
alias
Name
FACC
Role
alias
Name
FACD
Role
alias
Name
FACE
Role
alias
Name
FAD2
Role
alias
Name
FANCB
Role
alias
Name
FANCC
Role
alias
Name
FANCD
Role
alias
Name
FANCD2
Role
alias
Name
FANCE
Role
alias
Name
FANCF
Role
alias
Name
FANCI
Role
alias
Name
FANCONI ANEMIA, COMPLEMENTATION GROUP D
Role
alias
Name
FANCONI PANCYTOPENIA, TYPE 2
Role
alias
Name
FANCONI PANCYTOPENIA, TYPE 3
Role
alias
Name
FANCONI PANCYTOPENIA, TYPE 4
Role
alias
Name
FANCP
Role
alias
Name
FDH
Role
alias
Name
FNEPPK1
Role
alias
Name
FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA
Role
alias
Name
FODH
Role
alias
Name
Fanconi Anemia Complementation Group B
Role
alias
Name
Fanconi Anemia Complementation Group C
Role
alias
Name
Fanconi Anemia Complementation Group D2
Role
alias
Name
Fanconi Anemia Complementation Group E
Role
alias
Name
Fanconi Anemia Complementation Group F
Role
alias
Name
Fanconi Anemia Complementation Group I
Role
alias
Name
Fanconi Anemia Complementation Group P
Role
alias
Name
Fanconi Pancytopenia
Role
alias
Name
GOLTZ SYNDROME
Role
alias
Name
GOLTZ-GORLIN SYNDROME
Role
alias
Name
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA
Role
alias
Name
Geroderma Osteodysplasticum
Role
alias
Name
Gerodermia Osteodysplastica
Role
alias
Name
HHS
Role
alias
Name
HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC
Role
alias
Name
Hailey-Hailey Disease
Role
alias
Name
Harlequin Ichthyosis
Role
alias
Name
Hyperkeratosis of Palms And Soles
Role
alias
Name
Hyperkeratosis of The Palms And Soles
Role
alias
Name
Hypertrophic Ichthyosis
Role
alias
Name
Hypoelastic Skin
Role
alias
Name
ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY
Role
alias
Name
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY
Role
alias
Name
ICHTHYOSIS CONGENITA
Role
alias
Name
ICHTHYOSIS SIMPLEX
Role
alias
Name
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
Role
alias
Name
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
Role
alias
Name
ICHTHYOSIS, LAMELLAR, 1, FORMERLY
Role
alias
Name
ICHTHYOSIS, LAMELLAR, 4, FORMERLY
Role
alias
Name
ICHTHYOSIS, LAMELLAR, 5, FORMERLY
Role
alias
Name
ICR2
Role
alias
Name
Ichthyosiform Abnormality of The Skin
Role
alias
Name
Ichthyosis
Role
alias
Name
Ichthyosis Congenita Iii
Role
alias
Name
Ichthyosis Lamellar 3
Role
alias
Name
Ichthyosis Lammellaris
Role
alias
Name
Ichthyosis, Congenital
Role
alias
Name
Ichthyosis, Congenital, Autosomal Recessive 4A
Role
alias
Name
Ichthyosis, Congenital, Autosomal Recessive 4B
Role
alias
Name
Ichthyosis, Congenital, Autosomal Recessive 5
Role
alias
Name
Ichthyosis, Congenital, Nonblistering
Role
alias
Name
Ichthyosis, Lamellar
Role
alias
Name
Ichthyotic Skin
Role
alias
Name
Inelastic Skin
Role
alias
Name
KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR
Role
alias
Name
KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
Role
alias
Name
KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR
Role
alias
Name
KERATODERMA, PALMOPLANTAR, STRIATE FORM II
Role
alias
Name
KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME
Role
alias
Name
KPPS2
Role
alias
Name
Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type
Role
alias
Name
Keratosis Palmoplantaris Striata Iii
Role
alias
Name
Keratosis Palmoplantaris Transgrediens Of Siemens
Role
alias
Name
Keratosis Punctata (Palmaris Et Plantaris)
Role
alias
Name
Keratosis, Actinic
Role
alias
Name
LAMELLAR EXFOLIATION OF NEWBORN
Role
alias
Name
LAMELLAR ICHTHYOSIS, LATE-ONSET
Role
alias
Name
LI1, FORMERLY
Role
alias
Name
LI4, FORMERLY
Role
alias
Name
LI5, FORMERLY
Role
alias
Name
LIPOMATOSIS OF PANCREAS, CONGENITAL
Role
alias
Name
Lamellar Ichthyosis, Type 3
Role
alias
Name
Lax Skin
Role
alias
Name
Li2, Formerly
Role
alias
Name
Localized Epidermolytic Hyperkeratosis
Role
alias
Name
Loose And Inelastic Skin
Role
alias
Name
Loose Skin
Role
alias
Name
MDM
Role
alias
Name
NCIE1, FORMERLY
Role
alias
Name
NEPPK
Role
alias
Name
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA
Role
alias
Name
Non-bullous Congenital Ichthyosiform Erythroderma
Role
alias
Name
Nonbullous Congenital Ichthyosiform Erythroderma
Role
alias
Name
Nonbullous Congenital Ichthyosis
Role
alias
Name
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
Role
alias
Name
PALMOPLANTAR KERATODERMA, VORNER TYPE
Role
alias
Name
PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION
Role
alias
Name
POIKILODERMA ATROPHICANS AND CATARACT
Role
alias
Name
POROK7
Role
alias
Name
POROK8
Role
alias
Name
PPK, Nagashima Type
Role
alias
Name
PPK-CA, Stevanovic Type
Role
alias
Name
PPKCA1
Role
alias
Name
PPKE
Role
alias
Name
PPKFNE
Role
alias
Name
PPKN
Role
alias
Name
PPKNE
Role
alias
Name
PPKNEFD
Role
alias
Name
PPKP1
Role
alias
Name
PPKS2
Role
alias
Name
PXE-like Syndrome With Retinitis Pigmentosa
Role
alias
Name
Palmar And Plantar Keratoderma
Role
alias
Name
Palmoplantar Hyperkeratosis
Role
alias
Name
Palmoplantar Hyperkeratosis, Nagashima Type
Role
alias
Name
Palmoplantar Keratoderma
Role
alias
Name
Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type
Role
alias
Name
Palmoplantar Keratoderma, Bothnian Type
Role
alias
Name
Palmoplantar Keratoderma, Punctate Type Ia
Role
alias
Name
Palmoplantar Keratoses
Role
alias
Name
Pemphigus, Benign Familial
Role
alias
Name
Poikiloderma Of Rothmund-Thomson Type 2
Role
alias
Name
Porokeratosis 1, Multiple Types
Role
alias
Name
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Role
alias
Name
Porokeratosis 3, Multiple Types
Role
alias
Name
Porokeratosis 5, Disseminated Superficial Actinic Type
Role
alias
Name
Porokeratosis Plantaris Palmaris Et Disseminata
Role
alias
Name
Porokeratosis, Disseminated Superficial Actinic 1
Role
alias
Name
Ppks3
Role
alias
Name
Progressive Pancytopenia-immunodeficiency-cerebellar Hypoplasia Syndrome
Role
alias
Name
Progressive Symmetric Erythrokeratodermia, Gottron Type
Role
alias
Name
Punctate Palmoplantar Keratoderma Type 1A
Role
alias
Name
RED CELL APLASIA, PURE, HEREDITARY
Role
alias
Name
RTS
Role
alias
Name
RTS2
Role
alias
Name
SDS
Role
alias
Name
SHCB
Role
alias
Name
SHWACHMAN-BODIAN SYNDROME
Role
alias
Name
SICI
Role
alias
Name
SPPK2
Role
alias
Name
STRIATE PALMOPLANTAR KERATODERMA II
Role
alias
Name
Self-improving Congenital Ichthyosis
Role
alias
Name
Shwachman-Bodian-Diamond Syndrome
Role
alias
Name
Skin Laxity
Role
alias
Name
Solar Keratosis
Role
alias
Name
Syndrome, Rothmund-Thomson
Role
alias
Name
TPPII Deficiency
Role
alias
Name
TPPII-related Immunodeficiency, Autoimmunity, And Neurodevelopmental Delay With Impaired Glycolysis And Lysosomal Expansion Disease
Role
alias
Name
TRIANGLE Disease
Role
alias
Name
TYLOSIS
Role
alias
Name
Thick Palms And Soles
Role
alias
Name
Thickened Palms And Soles
Role
alias
Name
Transgrediens Palmoplantar Keratoderma Of Siemens
Role
alias
Name
Type I Congenital Dyserythropoietic Anemia
Role
alias
Name
ZINSSER-COLE-ENGMAN SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000972HP:0000973HP:0000982HP:0004810HP:0007404HP:0007431HP:0007435HP:0007475HP:0007477HP:0007479HP:0007559HP:0008064HP:0010490HP:0025127HP:0200044
Herb
HBDIS000144HBDIS000696HBDIS001038HBDIS001087HBDIS001510HBDIS001511HBDIS001606HBDIS001609HBDIS001610HBDIS001611HBDIS001895HBDIS002431HBDIS002518HBDIS003158HBDIS003180HBDIS003181HBDIS003198HBDIS003199HBDIS003241HBDIS004167HBDIS004592HBDIS005256HBDIS005784HBDIS005903HBDIS005906HBDIS005907HBDIS005908HBDIS005914HBDIS006069HBDIS006268HBDIS006269HBDIS006271HBDIS006272HBDIS006691HBDIS006692HBDIS006726HBDIS007283HBDIS008130HBDIS008562HBDIS009421HBDIS009446HBDIS009448HBDIS009632HBDIS009636HBDIS009637HBDIS010441HBDIS010711HBDIS012552HBDIS012558HBDIS012761HBDIS012847HBDIS013442HBDIS014225HBDIS014543HBDIS014920HBDIS015086HBDIS015138HBDIS015331HBDIS015499HBDIS015675HBDIS016210HBDIS016276HBDIS016856HBDIS016866HBDIS016867HBDIS016975HBDIS017218HBDIS017385HBDIS017516HBDIS017517HBDIS017586HBDIS018002HBDIS018383HBDIS018384HBDIS018408HBDIS019139HBDIS019382HBDIS019383HBDIS019414HBDIS019429HBDIS019460HBDIS019471HBDIS019837HBDIS019985HBDIS020112HBDIS020113HBDIS020230HBDIS020340HBDIS020371HBDIS020391HBDIS020443HBDIS020819HBDIS020821HBDIS020822HBDIS020823HBDIS020831HBDIS020873HBDIS020874HBDIS021117HBDIS021195HBDIS021350HBDIS021351HBDIS021406HBDIS021415HBDIS021452HBDIS021604HBDIS021629HBDIS021660HBDIS021739HBDIS021764HBDIS021818HBDIS021845HBDIS021846HBDIS021888HBDIS021941HBDIS022287HBDIS022387HBDIS022403HBDIS022437HBDIS022780HBDIS023045HBDIS023089HBDIS025655HBDIS025688HBDIS025758HBDIS026207HBDIS026238HBDIS026689HBDIS026690HBDIS026694HBDIS026712HBDIS026780HBDIS027191HBDIS027255HBDIS027265HBDIS027277HBDIS027391HBDIS027521HBDIS027719HBDIS028295HBDIS028832HBDIS028895HBDIS028956HBDIS029034HBDIS029125HBDIS029181HBDIS029358HBDIS029511HBDIS029852HBDIS029853HBDIS029995
Me Sh
D000742D003483D005199D005489D007057D007644D007645D011038D011561D015776D016112D016113D016506D017488D017490D017499D019871D029502D029503D053546D055623D056266
Omim
101900104100105650113800123700124200133200144200146700146750156610169600175800175900177850219100219150219200224100224120224230227645227646231070242100242300242500248300260400264800268400300514305000305600600231600901600962601277601952603467604117604777606545607654609053610629612281612527612528612561612562612563612908612940613000613308613309613943613951613987613989613990614434614437614438614900614936615024615190615550615598615631615735615909616063616353616553616603616734617247617402617403617409617525617526
Umls
C0002876C0010495C0015625C0016395C0020757C0020758C0022584C0022595C0022596C0022602C0025221C0030360C0032339C0033847C0043345C0079154C0079583C0079584C0085106C0162361C0162838C0162839C0265265C0265961C0265964C0265965C0265970C0266004C0268350C0268351C0268355C0272170C0302319C0343110C0376359C0406556C0406707C0432255C0432336C0473583C0473586C0949506C1148551C1260899C1327915C1327919C1721006C1744559C1833030C1836033C1836861C1838359C1840427C1845292C1846142C1852127C1852296C1852297C1855789C1857069C1857144C1858805C1863093C1866029C1867450C1867451C2675511C2675512C2675859C2675860C2676137C2677065C2750080C2750081C2751321C2751987C2931735C2931923C3151441C3151443C3151444C3151445C3151468C3160738C3160739C3276539C3279392C3279393C3280794C3280798C3280799C3468041C3469526C3469542C3489771C3536797C3539888C3543867C3553029C3553549C3554042C3554349C3554355C3554656C3806774C3808802C3809888C3810072C3810185C3810394C3888093C4014641C4015128C4225225C4225268C4225283C4225284C4225356
Icd10
D61.0D61.01D64.4E50.8L57.0L85.2Q80Q80.0Q80.2Q80.3Q80.4Q80.9Q82.8
Med Dra
10023369100371501004904810067940
Sym Map
SMDE00012SMDE00336SMDE00385SMDE00428SMDE00430SMDE00518SMDE00544SMDE00552SMDE00578SMDE00600SMDE00651SMDE00661SMDE00665SMDE00682SMDE00712SMDE00714SMDE00838SMDE00839SMDE00875SMDE00897SMDE00941SMDE00949SMDE00983SMDE00984SMDE00987SMDE01091SMDE01101SMDE01131SMDE01156SMDE01187SMDE01218SMDE01234SMDE01264SMDE01297SMDE01305SMDE01359SMDE01400SMDE01410SMDE01440SMDE01482SMDE01554SMDE01594SMDE01679SMDE01683SMDE01695SMDE01762SMDE01767SMDE01781SMDE01802SMDE01833SMDE02034SMDE02087SMDE02109SMDE02160SMDE02190SMDE02321SMDE02366SMDE02489SMDE02536SMDE02548SMDE02651SMDE02693SMDE02694SMDE02752SMDE02784SMDE02844SMDE02853SMDE02884SMDE02917SMDE03025SMDE03034SMDE03043SMDE03162SMDE03264SMDE03284SMDE03451SMDE03500SMDE03676SMDE03685SMDE03776SMDE03780SMDE03785SMDE03839SMDE03899SMDE03921SMDE04002SMDE04018SMDE04023SMDE04082SMDE04172SMDE04221SMDE04222SMDE04324SMDE04397SMDE04464SMDE04557SMDE04992SMDE05057SMDE05265SMDE05404SMDE05846SMDE07321SMDE07452SMDE07463SMDE07682SMDE07683SMDE07684SMDE07729SMDE07730SMDE07912SMDE08087SMDE08088SMDE08369SMDE08370SMDE09152SMDE09620SMDE09743SMDE09744SMDE09746SMDE10186SMDE10189SMDE10190SMDE11473SMDE11830SMDE12315SMDE12316SMDE12531SMDE12532SMDE14393SMDE14402
Do Class
DOID:14566DOID:225DOID:630DOID:7
Dis Ge Net
C0002876C0010495C0015625C0016395C0020757C0020758C0022584C0022595C0022596C0022602C0025221C0032339C0033847C0043345C0079153C0079154C0079583C0079584C0085106C0162838C0162839C0221199C0239849C0265265C0265961C0265965C0265970C0265971C0265988C0267026C0268350C0268351C0268354C0268355C0271933C0271934C0272170C0302319C0343110C0376359C0432255C0432333C0432336C0473575C0473583C0473586C0598226C0702159C0949116C0949506C1148551C1260899C1306589C1442958C1542667C1721006C1832550C1833030C1835662C1836861C1838359C1840427C1845292C1846142C1851480C1852127C1852296C1852297C1853666C1855789C1857144C1857719C1858133C1858142C1858805C1863093C1866029C1867450C1867451C1867981C2363246C2675511C2675512C2675859C2675860C2676137C2676769C2677065C2750080C2750081C2751987C2910342C2910343C2931123C2931735C2931850C2931923C2936837C3151441C3151443C3151444C3151445C3151468C3160738C3160739C3276539C3279392C3280798C3280799C3468041C3469526C3469542C3489771C3536797C3539888C3543867C3553029C3553549C3554042C3554349C3554355C3554656C3665335C3808802C3809888C3810072C3810185C3810394C3888093C4014641C4015128C4225225C4225268C4225283C4225284C4225356C4305324C4310651C4479387C4479409C4479428C4479619C4479620C4511230C4551486C4551592C4551630C4551675C4552049C4692625C4707237
Orphanet
1009761010124140966165817751807189207820922173352182199221016233725052585269828112228112728120128412907313316317331933224362744444634945094250944666316787357587915279394793957950181184875039034890349
Umls Sty
T019T033T047T191
Hpo Class
HP:0001574HP:0001871HP:0002664HP:0040064
Me Sh Class
C04C05C07C10C11C13C14C15C16C17C18C19C23F01F03
Etcm Disease
Acral Self-Healing Collodion BabyAmegakaryocytic Thrombocytopenia, CongenitalAnemia, Congenital Dyserythropoietic, Type IbAtaxia-Pancytopenia SyndromeBenign Chronic PemphigusClouston SyndromeCutis LaxaCutis Laxa, Autosomal Dominant 1Cutis Laxa, Autosomal Dominant 2Cutis Laxa, Autosomal Dominant 3Cutis Laxa, Autosomal Recessive, Type IbCutis Laxa, Autosomal Recessive, Type IiaCutis Laxa, Autosomal Recessive, Type IibCutis Laxa, Autosomal Recessive, Type IicCutis Laxa, Autosomal Recessive, Type IidCutis Laxa, Autosomal Recessive, Type IiibDarier-White DiseaseDiamond-Blackfan Anemia 1Diamond-Blackfan Anemia 10Diamond-Blackfan Anemia 11Diamond-Blackfan Anemia 12Diamond-Blackfan Anemia 13Diamond-Blackfan Anemia 17Diamond-Blackfan Anemia 4Diamond-Blackfan Anemia 5Diamond-Blackfan Anemia 7Diamond-Blackfan Anemia 8Diamond-Blackfan Anemia 9Dyskeratosis CongenitaDyskeratosis Congenita, Autosomal Dominant 2Dyskeratosis Congenita, Autosomal Dominant 3Dyskeratosis Congenita, Autosomal Dominant 6Dyskeratosis Congenita, Autosomal Recessive 1Dyskeratosis Congenita, Autosomal Recessive 2Dyskeratosis Congenita, Autosomal Recessive 5Dyskeratosis Congenita, Autosomal Recessive 6Dyskeratosis Congenita, X-LinkedErythrokeratodermia Variabilis Et Progressiva 1Erythrokeratodermia Variabilis Et Progressiva 3Erythrokeratodermia Variabilis Et Progressiva 4Fanconi Anemia, Complementation Group BFanconi Anemia, Complementation Group CFanconi Anemia, Complementation Group D2Fanconi Anemia, Complementation Group EFanconi Anemia, Complementation Group FFanconi Anemia, Complementation Group IFanconi Anemia, Complementation Group PFanconi Anemia, Complementation Group UFocal Dermal HypoplasiaHoyeraal Hreidarsson SyndromeIchthyosis VulgarisIchthyosis, Congenital, Autosomal Recessive 1Ichthyosis, Congenital, Autosomal Recessive 10Ichthyosis, Congenital, Autosomal Recessive 2Ichthyosis, Congenital, Autosomal Recessive 3Ichthyosis, Congenital, Autosomal Recessive 6Ichthyosis, Congenital, Autosomal Recessive 8Ichthyosis, Congenital, Autosomal Recessive 9Keratosis Linearis with Ichthyosis Congenita and Sclerosing KeratodermaKeratosis Palmoplantaris Striata IiKnuckle Pads, Leukonychia, and Sensorineural DeafnessMacs SyndromeMal De Meleda
Tcmbank Disease
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Itcmdb Generated
ITX-DISEASE-0110C701731BITX-DISEASE-014B064DBDBCITX-DISEASE-0781032F8E54ITX-DISEASE-0AD621E89757ITX-DISEASE-0CD39D9E4C3DITX-DISEASE-0CFFF480F61BITX-DISEASE-1271DC07CE17ITX-DISEASE-1411C39670F8ITX-DISEASE-16191E119F24ITX-DISEASE-1700234FD78BITX-DISEASE-1C0EF2BA56D2ITX-DISEASE-1D8A53D574C8ITX-DISEASE-214D3475F411ITX-DISEASE-224771B3DB2CITX-DISEASE-24CB2CD1B6F1ITX-DISEASE-255699796A76ITX-DISEASE-2DCC1F39EDB2ITX-DISEASE-2ED1C63AE206ITX-DISEASE-320868DDA6F3ITX-DISEASE-32137FBA62ACITX-DISEASE-345107A63ABFITX-DISEASE-34FD0EC5A165ITX-DISEASE-354D21EEFB93ITX-DISEASE-3796DD5876EDITX-DISEASE-383E8BA8BC44ITX-DISEASE-38E62A0DEAC4ITX-DISEASE-39B13D9B53FEITX-DISEASE-3A7588FD3635ITX-DISEASE-3D5564B4725FITX-DISEASE-3F3AEB765BAAITX-DISEASE-40E9CAC44D01ITX-DISEASE-42E1E6987A2AITX-DISEASE-43F40761A660ITX-DISEASE-4615783F2E25ITX-DISEASE-48C1E7580E00ITX-DISEASE-4AAD166ADE5FITX-DISEASE-4EAB6697937AITX-DISEASE-4FE49B5B9C45ITX-DISEASE-55268A8444B0ITX-DISEASE-5637B2C0D78FITX-DISEASE-56DD1CBA3F83ITX-DISEASE-586CEDF53201ITX-DISEASE-58B1E9C7D961ITX-DISEASE-5A32AAF97FCAITX-DISEASE-5B533DA37A31ITX-DISEASE-5DDEC729B6EAITX-DISEASE-5DE7BEC78815ITX-DISEASE-61803AE8A08AITX-DISEASE-623D05318ADDITX-DISEASE-6A568360B270ITX-DISEASE-6FDB7089892DITX-DISEASE-700A3ECF3DFFITX-DISEASE-73FCAC264243ITX-DISEASE-768496CEECB1ITX-DISEASE-770A86F67837ITX-DISEASE-78AD291513C2ITX-DISEASE-79E69DFE1186ITX-DISEASE-79EBBF7510B7ITX-DISEASE-7B6E3EE854D3ITX-DISEASE-80771689FC43ITX-DISEASE-822211B41162ITX-DISEASE-8BC2E19C111BITX-DISEASE-91166CB2F7E2ITX-DISEASE-91B621B5EA41ITX-DISEASE-921CCC2A5C9AITX-DISEASE-986B79A58448ITX-DISEASE-9DFE622DBE95ITX-DISEASE-9E798ED28818ITX-DISEASE-A47E778715A1ITX-DISEASE-A4B124B7202FITX-DISEASE-AA710AB1EE06ITX-DISEASE-AF373AD805B5ITX-DISEASE-B4C7937A305AITX-DISEASE-BC55D2A33DE9ITX-DISEASE-BF5770F4439EITX-DISEASE-C11991628D5EITX-DISEASE-C1A3F5557311ITX-DISEASE-C2746DAEE163ITX-DISEASE-C49F88B14F5FITX-DISEASE-C4B5936FF460ITX-DISEASE-C7176E08DCCCITX-DISEASE-C85672A52619ITX-DISEASE-CD0543CEAE92ITX-DISEASE-D334EEB57300ITX-DISEASE-D52B488949A3ITX-DISEASE-DA533594DA9DITX-DISEASE-E06115BD7E80ITX-DISEASE-E0EE1403D430ITX-DISEASE-E41E6F3CECBBITX-DISEASE-E5FDB37E0095ITX-DISEASE-E6494D3C6390ITX-DISEASE-E8AF17ED215CITX-DISEASE-E8EA6D5F67FFITX-DISEASE-EF30AEE5D661ITX-DISEASE-F14683270FCCITX-DISEASE-F410628DB474ITX-DISEASE-F49DEF6180A8ITX-DISEASE-F6823777C53EITX-DISEASE-F8DD48FCB8F3ITX-DISEASE-FA322A07F68A
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Merged source attributes and domain-specific metadata.
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Page Title
Disease Acral Self-Healing Collodion Baby Details pageDisease Amegakaryocytic Thrombocytopenia, Congenital Details pageDisease Anemia, Congenital Dyserythropoietic, Type Ib Details pageDisease Ataxia-Pancytopenia Syndrome Details pageDisease Benign Chronic Pemphigus Details pageDisease Clouston Syndrome Details pageDisease Cutis Laxa Details pageDisease Cutis Laxa, Autosomal Dominant 1 Details pageDisease Cutis Laxa, Autosomal Dominant 2 Details pageDisease Cutis Laxa, Autosomal Dominant 3 Details pageDisease Cutis Laxa, Autosomal Recessive, Type Ib Details pageDisease Cutis Laxa, Autosomal Recessive, Type Iia Details pageDisease Cutis Laxa, Autosomal Recessive, Type Iib Details pageDisease Cutis Laxa, Autosomal Recessive, Type Iic Details pageDisease Cutis Laxa, Autosomal Recessive, Type Iid Details pageDisease Cutis Laxa, Autosomal Recessive, Type Iiib Details pageDisease Darier-White Disease Details pageDisease Diamond-Blackfan Anemia 1 Details pageDisease Diamond-Blackfan Anemia 10 Details pageDisease Diamond-Blackfan Anemia 11 Details pageDisease Diamond-Blackfan Anemia 12 Details pageDisease Diamond-Blackfan Anemia 13 Details pageDisease Diamond-Blackfan Anemia 17 Details pageDisease Diamond-Blackfan Anemia 4 Details pageDisease Diamond-Blackfan Anemia 5 Details pageDisease Diamond-Blackfan Anemia 7 Details pageDisease Diamond-Blackfan Anemia 8 Details pageDisease Diamond-Blackfan Anemia 9 Details pageDisease Dyskeratosis Congenita Details pageDisease Dyskeratosis Congenita, Autosomal Dominant 2 Details pageDisease Dyskeratosis Congenita, Autosomal Dominant 3 Details pageDisease Dyskeratosis Congenita, Autosomal Dominant 6 Details pageDisease Dyskeratosis Congenita, Autosomal Recessive 1 Details pageDisease Dyskeratosis Congenita, Autosomal Recessive 2 Details pageDisease Dyskeratosis Congenita, Autosomal Recessive 5 Details pageDisease Dyskeratosis Congenita, Autosomal Recessive 6 Details pageDisease Dyskeratosis Congenita, X-Linked Details pageDisease Erythrokeratodermia Variabilis Et Progressiva 1 Details pageDisease Erythrokeratodermia Variabilis Et Progressiva 3 Details pageDisease Erythrokeratodermia Variabilis Et Progressiva 4 Details pageDisease Fanconi Anemia, Complementation Group B Details pageDisease Fanconi Anemia, Complementation Group C Details pageDisease Fanconi Anemia, Complementation Group D2 Details pageDisease Fanconi Anemia, Complementation Group E Details pageDisease Fanconi Anemia, Complementation Group F Details pageDisease Fanconi Anemia, Complementation Group I Details pageDisease Fanconi Anemia, Complementation Group P Details pageDisease Fanconi Anemia, Complementation Group U Details pageDisease Focal Dermal Hypoplasia Details pageDisease Hoyeraal Hreidarsson Syndrome Details pageDisease Ichthyosis Vulgaris Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 1 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 10 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 2 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 3 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 6 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 8 Details pageDisease Ichthyosis, Congenital, Autosomal Recessive 9 Details pageDisease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Details pageDisease Keratosis Palmoplantaris Striata Ii Details pageDisease Knuckle Pads, Leukonychia, and Sensorineural Deafness Details pageDisease Macs Syndrome Details pageDisease Mal De Meleda Details page
Do Class Name
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; syndromedisease of cellular proliferationgenetic diseasegenetic disease; disease of anatomical entitygenetic disease; syndromesyndrome
Disease Type
disease
Hpo Class Name
Abnormality of blood and blood-forming tissuesAbnormality of the integumentAbnormality of the integument; Abnormality of limbsAbnormality of the integument; Neoplasm
Do Disease Class
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasedisease of anatomical entity; syndromedisease of cellular proliferationgenetic diseasesyndromesyndrome; genetic disease
Hpo Disease Class
Abnormality of blood and blood-forming tissuesAbnormality of limbs; Abnormality of the integumentAbnormality of the integumentNeoplasm; Abnormality of the integument
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFindingNeoplastic Process
Basic Information
Disease Name
Acral Self-Healing Collodion Baby
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Amegakaryocytic Thrombocytopenia, Congenital
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Anemia, Congenital Dyserythropoietic, Type Ib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Ataxia-Pancytopenia Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Benign Chronic Pemphigus
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Immune diseases;Oral diseases;Skin diseases
Disease Name
Clouston Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Oral diseases;Skin diseases
Disease Name
Cutis Laxa
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Dominant 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Dominant 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Dominant 3
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Ib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Iia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Iib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Iic
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Iid
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Cutis Laxa, Autosomal Recessive, Type Iiib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Darier-White Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Diamond-Blackfan Anemia 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 10
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 11
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 12
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 13
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 17
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 4
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 5
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 7
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 8
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Diamond-Blackfan Anemia 9
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Name
Dyskeratosis Congenita
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Dominant 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Dominant 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Dominant 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Recessive 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Recessive 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Recessive 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, Autosomal Recessive 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Dyskeratosis Congenita, X-Linked
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Immune diseases;Skin diseases
Disease Name
Erythrokeratodermia Variabilis Et Progressiva 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Erythrokeratodermia Variabilis Et Progressiva 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Erythrokeratodermia Variabilis Et Progressiva 4
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group B
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group C
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group D2
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group E
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group F
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group I
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group P
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Fanconi Anemia, Complementation Group U
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Name
Focal Dermal Hypoplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases;Skin diseases
Disease Name
Hoyeraal Hreidarsson Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases;Neuronal diseases
Disease Name
Ichthyosis Vulgaris
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 10
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 8
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Ichthyosis, Congenital, Autosomal Recessive 9
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Name
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Keratosis Palmoplantaris Striata Ii
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Knuckle Pads, Leukonychia, and Sensorineural Deafness
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Skin diseases
Disease Name
Macs Syndrome
Global Category
Fetal diseases;Genetic diseases;Infectious diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Mal De Meleda
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Definition
Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without otheAutosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifBathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.CSP2006:skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis that exist at, and usually before, birth regardless of their causation; most ichthyoses are genetically determined.Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a backgrDarier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found mosDyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of boFanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematologicaFocal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrHoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardatJABL99:Symmetric ringed creases around the extremities which disappear later in life. They are reminiscent of these of the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism and high growth hormone and low somatomedin activity), and other defects.Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.MSH2017_2016_08_12:Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.|HPO2016_07_04:An ichthyosiform abnormality of the skin with congenital onset. [HPO:probinson]Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal sNCI2016_02D:A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.|MSH2017_2016_08_12:A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.NCI2016_02D:A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.|MSH2017_2016_08_12:A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)|HPO2016_07_04:Wrinkled, redundant, inelastic and sagging skin. [HPO:probinson]|CSP2006:group of connective tissue diseases in which skin hangs in loose pendulous folds; believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation; usually a genetic disease, but acquired cases have been reported.NCI2016_02D:A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.|MSH2017_2016_08_12:An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.NCI2016_02D:A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.|MSH2017_2016_08_12:Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.|HPO2016_07_04:An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [HPO:probinson]NCI2016_02D:A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders.NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is manifested with periodontitis resulting in the premature loss of teeth and palmoplantar keratoderma.|MSH2017_2016_08_12:Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.NCI2016_02D:A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes.|MSH2017_2016_08_12:A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.NCI2016_02D:A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.|MSH2017_2016_08_12:An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.NCI2016_02D:An autosomal dominant disorder characterized by a history of multiple relapses and remissions of pemphigus lesions.|MSH2017_2016_08_12:An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.NCI2016_02D:An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.|MSH2017_2016_08_12:A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.|HPO2016_07_04:An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. [HPO:probinson]NCI2016_02D:An inherited disorder characterized by the development of keratotic lesions on the palms and soles. It appears in childhood as redness on the palms and soles which progresses to well demarcated, thickened, yellowish and waxy lesions.|MSH2017_2016_08_12:An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.NCI2016_02D:Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.NCI2016_02D:Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.NCI2016_02D:Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.NCI2016_02D:Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.NCI2016_02D:Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.NCI2016_02D:The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.|MSH2017_2016_08_12:Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.NCI2016_NCI-GLOSS_1602D:A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer).|NCI2016_02D:An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.|MSH2017_2016_08_12:An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.NCI2016_NCI-GLOSS_1602D:A thick, scaly patch of skin that may become cancer. It usually forms on areas exposed to the sun, such as the face, scalp, back of the hands, or chest. It is most common in people with fair skin.|NCI2016_02D:A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.|MSH2017_2016_08_12:White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA.|CHV2011_02:precancerous thick and scaly patches of skin|CHV2011_02:precancerous thick and scaly patches of skin|CHV2011_02:precancerous thick and scaly patches of skinNCI2016_NCI-GLOSS_1602D:A very rare disorder in which the bone marrow doesn't make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell's ribosomes.|NCI2016_02D:An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy.|MSH2017_2016_08_12:A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)|HPO2016_07_04:A type of hypoplastic anemia with congenital onset. [HPO:probinson]NCI2016_NICHD_1602D:A group of skin disorders characterized by thickening of the palms and soles due to hyperkeratosis.|NCI2016_02D:A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.|MSH2017_2016_08_12:Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).|HPO2016_07_04:Hyperkeratosis affecting the palm of the hand and the sole of the foot. [HPO:probinson]|HPO2016_07_04:Abnormal thickening of the skin of the palms of the hands and the soles of the feet. [HPO:probinson]Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated aPorokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distincPseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosiRothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short statureSNOMEDCT_US_2016_09_01:A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission.SNOMEDCT_US_2016_09_01:A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance.|SNOMEDCT_US_2016_09_01:A rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalised. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact aetiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance.SNOMEDCT_US_2016_09_01:A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.|NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the c-Mpl gene. It is characterized by thrombocytopenia and absence of megakaryocytes. It presents with bleeding in the first month of life.SNOMEDCT_US_2016_09_01:A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.|SNOMEDCT_US_2016_09_01:A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia.Sch？pf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia aSelf-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals withiShwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failurStriate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal
Me Sh Disease Class
Cardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesEndocrine System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesHemic and Lymphatic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesNeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; NeoplasmsStomatognathic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System DiseasesHemic and Lymphatic DiseasesNeoplasmsNeoplasms; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Musculoskeletal DiseasesStomatognathic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityNeoplastic Process