Microphthalmia, isolated 1

Preferred Label : Microphthalmia, isolated 1;

Symbol : MCOP1;

CISMeF acronym : MCOP; MCOP1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Anophthalmia, clinical, isolated; Microphthalmos, autosomal recessive; MCOP;

Description : One form of isolated microphthalmia (MCOP1) has been mapped to chromosome 14q32. Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). - Genetic Heterogeneity of Isolated Microphthalmia;

Inheritance : Autosomal recessive; also dominant forms;

Prefixed ID : %251600;

Details

Origin ID

251600;

UMLS CUI

C1855052;

Automatic exact mappings (from CISMeF team)
- COMP Regimen [NCIt concept]
- MCOP protocol [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
- isolated microphthalmia 1 [DO Concept]
- microphthalmia, isolated 1 [MeSH concept]
- microphthalmia, isolated 1 [MeSH Supplementary Concept]
DO Cross reference
- isolated microphthalmia 1 [DO Concept]
HPO term(s)
- Anophthalmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Glaucoma [HPO term]
- High hypermetropia [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- isolated microphthalmia 1 [DO Concept]
- microphthalmia, isolated 1 [MeSH Supplementary Concept]
- microphthalmia, isolated 1 [MeSH concept]

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