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Ornithine Aminotransferase Deficiency (MONDO:0009796)

Open Trait in OLS

A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.

Overview

Category

disorder of orbital region

cardiovascular disorder

nervous system disorder

disorder of visual system

Ontology ID

MONDO:0009796

Internal:11006

Synonyms

GACR

HOGA

gyrate atrophy

gyrate atrophy of choroid and retina with or without ornithinemia

hoga

hyperornithinemia

hyperornithinemia-gyrate atrophy of choroid and retina syndrome

ornithine aminotransferase deficiency

Fuchs atrophia gyrata chorioideae et retinae

Fuchs gyrate atrophy

Fuchs gyrate atrophy of the choroid and retina

Girate atrophy of the retina

OAT deficiency

OKT deficiency

Oat deficiency

Okt deficiency

Ornithinemia

gyrate atrophy of choroid and retina

hyperornithinemia with gyrate atrophy of choroid and retina

ornithine Keto acid aminotransferase deficiency

ornithine ketoacid aminotransferase deficiency

ornithine-Delta-aminotransferase deficiency

Mapped terms

DOID:1415

GARD:0006556

MEDGEN:6695

MESH:D015799

NANDO:2200484

NANDO:2200486

NCIT:C84744

OMIM:258870

Orphanet:414

UMLS:C0018425

Child terms

Unknown children.

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