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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/256800
http://purl.bioontology.org/ontology/OMIM/256800
|
|---|---|
| Preferred Name | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
| Synonyms |
FAMILIAL DYSAUTONOMIA, TYPE II
HSAN IV
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV
CIPA
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
HSAN4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FAMILIAL DYSAUTONOMIA, TYPE II
HSAN IV
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV
CIPA
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
HSAN4
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|---|---|
| prefLabel | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
|
| Gene Symbol |
NTRK1
TRKA
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Accidental injury to the self (mouth, digits) has been referred to by some as 'self-mutilation' [MISCELLANEOUS]
Caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (NTRK1, 191315.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q21-q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 256800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0020074
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |