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DO Term : Sveinsson chorioretinal atrophy [DOID:0111228] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:724384008,
  • SCRA,
  • 108985,
  • ORDO:86813,
  • OMIM:108985,
  • peripapillary chorioretinal degeneration, Icelandic type,
  • helicoid peripapillary chorioretinal degeneration,
  • HPCD,
  • MESH:C566236,
  • atrophia areata,
  • UMLS_CUI:C1862382
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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