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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613989
http://purl.bioontology.org/ontology/OMIM/613989
|
|---|---|
| Preferred Name | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 |
| Synonyms |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4
DKCA2
DKCB4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4
DKCA2
DKCB4
|
|---|---|
| prefLabel | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
|
| Gene Symbol |
EST2
CMM9
DKCA2
PFBMFT1
TERT
TCS1
DKCB4
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| Scope Statement | Patients with the autosomal recessive disorder have a more severe phenotype [MISCELLANEOUS]
Age at onset ranges from childhood to adulthood [MISCELLANEOUS]
Variable penetrance and expressivity [MISCELLANEOUS]
Caused by mutation in the telomerase reverse transcriptase gene (TERT, 187270.0007) [MOLECULAR BASIS]
Highly variable phenotype and severity, even within families [MISCELLANEOUS]
Genetic anticipation [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5p15.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613989
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3151444
C3151443
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |