Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301108
http://purl.bioontology.org/ontology/OMIM/301108
|
|---|---|
| Preferred Name | CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 |
| Synonyms |
CHINE1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CHINE1
|
|---|---|
| prefLabel | CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
|
| Gene Symbol |
DKC1
CHINE1
DKCX
|
| Scope Statement | Death in early childhood (in males) [MISCELLANEOUS]
Males are more severely affected [MISCELLANEOUS]
One family has been reported (last curated June 2023) [MISCELLANEOUS]
Incomplete penetrance in females [MISCELLANEOUS]
Onset of symptoms in infancy (in males) [MISCELLANEOUS]
Caused by mutation in the dyskerin gene (DKC1, 300126.0016) [MOLECULAR BASIS]
Onset of symptoms in the first two decades (in females) [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301108
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5829571
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |