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Ontology Browser

Term:
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 (DOID:9000594)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1  
An X-linked syndromic disorder that is phenotypically more severe in males than females. Caused by hemizygous or heterozygous mutation in the DKC1 gene on chromosome Xq28.
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2  

Synonyms
Exact Synonyms: CHINE1
Broad Synonyms: DKC1-RELATED CONDITION
Primary IDs: MIM:301108
Definition Sources: MIM:301108

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