Optic atrophy 6

Preferred Label : Optic atrophy 6;

Symbol : OPA6;

CISMeF acronym : OPA6;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Optic atrophy, congenital or early infantile, autosomal recessive;

Description : For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).;

Inheritance : Autosomal recessive;

Prefixed ID : %258500;

Details

Origin ID

258500;

UMLS CUI

C1850281;

Currated CISMeF NLP mapping
- Autosomal recessive optic atrophy, OPA6 type [ORDO Disease]
- Optic atrophy 6 [MeSH concept]
- optic atrophy 6 [DO Concept]
- optic atrophy 6 [MeSH Supplementary Concept]
DO Cross reference
- optic atrophy 6 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dyschromatopsia with red-green confusion [HPO term]
- Infantile onset [HPO term]
- Optic atrophy [HPO term]
- Photophobia [HPO term]
- Red-green dyschromatopsia [HPO term]
- Slowly progressive [HPO term]
- Subnormal visual acuity [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Nystagmus [HPO term]
- Retinal degeneration [HPO term]
ORDO concept(s)
- Autosomal recessive isolated optic atrophy [ORDO Disease]
- Autosomal recessive optic atrophy, OPA6 type [ORDO Disease]
- Genetic optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive optic atrophy, OPA6 type [ORDO Disease]
- Optic atrophy 6 [MeSH concept]
- optic atrophy 6 [MeSH Supplementary Concept]

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