Microphthalmia, isolated, with cataract 1

Preferred Label : Microphthalmia, isolated, with cataract 1;

Symbol : MCOPCT1;

CISMeF acronym : CATM; MCOPCT1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cataract, congenital, with microphthalmia; CATM;

Description : Isolated microphthalmia with cataract-1 (MCOPCT1) has been mapped to chromosome 16p13.3. MCOPCT2 (212550) is caused by mutation in the SIX6 gene (606326) on chromosome 14q23. See 302300 for a discussion of;

Inheritance : Autosomal dominant (16p13.3);

Prefixed ID : %156850;

Details

Origin ID

156850;

UMLS CUI

C1834919;

Broader ORDO disease(s)
- Microphthalmia-cataract syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Microphthalmia-cataract syndrome [ORDO Disease]
- microphthalmia, isolated, with cataract 1 [MeSH concept]
- microphthalmia, isolated, with cataract 1 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Microphthalmia [HPO term]
- Miosis [HPO term]
- Nystagmus [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
- Microphthalmia-cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia-cataract syndrome [ORDO Disease]
- microphthalmia, isolated, with cataract 1 [MeSH Supplementary Concept]
- microphthalmia, isolated, with cataract 1 [MeSH concept]

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