Nanophthalmos 1

Preferred Label : Nanophthalmos 1;

Symbol : NNO1;

CISMeF acronym : NNO1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microphthalmos, simple, autosomal dominant; Nanophthalmos with high hyperopia and angle-closure glaucoma; Nanophthalmia 1; Nanophthalmos, autosomal dominant;

Description : A locus for autosomal dominant nanophthalmos (NNO1) has been mapped to chromosome 11p. Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by Othman et al., 1998). - Genetic Heterogeneity of Nanophthalmos Another locus for autosomal dominant nanophthalmos (NNO3; 611897) has been mapped to chromosome 2q11-q14. Autosomal recessive nanophthalmos (NNO2; 609549) can be caused by mutation in the MFRP gene (606227) on chromosome 11q23.;

Inheritance : Autosomal dominant;

Prefixed ID : %600165;

Détails

Origin ID

600165;

UMLS CUI

C1838502;

Broader ORDO disease(s)
- Nanophthalmos [ORDO Disease]
Currated CISMeF NLP mapping
- Nanophthalmia (disorder) [SNOMED CT concept]
- Nanophthalmos [ORDO Disease]
- nanophthalmos 1 [MeSH concept]
- nanophthalmos 1 [MeSH Supplementary Concept]
DO Cross reference
- nanophthalmos [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
ORDO concept(s)
- Nanophthalmos [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nanophthalmos [ORDO Disease]
- nanophthalmos 1 [MeSH Supplementary Concept]
- nanophthalmos 1 [MeSH concept]

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

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