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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/135400
http://purl.bioontology.org/ontology/OMIM/135400
|
|---|---|
| Preferred Name | HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA |
| Synonyms |
MICRODELETION 17q24.2-q24.3 SYNDROME
CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS
CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME
MICRODUPLICATION 17q24.2-q24.3 SYNDROME
HTC3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MICRODELETION 17q24.2-q24.3 SYNDROME
CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS
CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME
MICRODUPLICATION 17q24.2-q24.3 SYNDROME
HTC3
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|
|---|---|
| prefLabel | HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA
|
| Gene Symbol |
KIAA1888
HTC3
ABCA5
|
| Scope Statement | Caused by mutation in the gene ATP-binding cassette, subfamily A, member 5 gene (ABCA5, 612503.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q24.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 135400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1851120
|
| 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 |