Foveal hypoplasia 2

Preferred Label : Foveal hypoplasia 2;

Symbol : FVH2;

CISMeF acronym : FHONDA; FVH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism; Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; FHONDA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 38 (amino acid transporter), member 8 gene (SLC38A8, 615585.0001);

Prefixed ID : #609218;

Details

Origin ID

609218;

UMLS CUI

C3807873;

Automatic exact mappings (from CISMeF team)
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) [SNOMED CT concept]
- Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- foveal hypoplasia and anterior segment dysgenesis [MeSH concept]
- foveal hypoplasia and anterior segment dysgenesis [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 38 (amino acid transporter), member 8 [OMIM gene]
HPO term(s)
- Alternating esotropia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axenfeld anomaly [HPO term]
- Foveal hyperpigmentation [HPO term]
- Hypoplasia of the fovea [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Optic nerve misrouting [HPO term]
- Posterior embryotoxon [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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