Nanophthalmos 2

Preferred Label : Nanophthalmos 2;

Symbol : NNO2;

CISMeF acronym : NNO2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nanophthalmia 2; Nanophthalmos, autosomal recessive;

Prefixed ID : #609549;

Détails

Origin ID

609549;

UMLS CUI

C1836006;

Automatic exact mappings (from CISMeF team)
- membrane frizzled-related protein [ORDO Gene]
- membrane frizzled-related protein [HGNC gene]
Broader ORDO disease(s)
- Nanophthalmos [ORDO Disease]
Currated CISMeF NLP mapping
- nanophthalmos 2 [MeSH concept]
- nanophthalmos 2 [MeSH Supplementary Concept]
DO Cross reference
- nanophthalmos [DO Concept]
Genes related to phenotype
- Membrane-type frizzled-related protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Nanophthalmos [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nanophthalmos 2 [MeSH Supplementary Concept]
- nanophthalmos 2 [MeSH concept]
Validated automatic mappings to NTBT
- Nanophthalmos [ORDO Disease]

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

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