Cataract 15, multiple types

Preferred Label : Cataract 15, multiple types;

Symbol : CTRCT15;

CISMeF acronym : CTRCT15;

Type : Phenotype, molecular basis known;

Description : Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the major intrinsic protein of lens fiber (MIP, 154050.0001);

Prefixed ID : #615274;

Détails

Origin ID

615274;

UMLS CUI

C3809001;

Currated CISMeF NLP mapping
- cataract 15 multiple types [DO Concept]
DO Cross reference
- cataract 15 multiple types [DO Concept]
Genes related to phenotype
- Major intrinsic protein of lens fiber [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cortical cataract [HPO term]
- Developmental cataract [HPO term]
- Lamellar cataract [HPO term]
- Nuclear cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 15 multiple types [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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