|  Help  |  About  |  Contact Us

DO Term : foveal hypoplasia 2 [DOID:0070531] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:782754006,
  • UMLS_CUI:C5190596,
  • OMIM:609218,
  • 609218,
  • FHONDA,
  • foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,
  • foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis,
  • FHONDA syndrome,
  • ORDO:397618,
  • FVH2
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents