Optic nerve hypoplasia, bilateral

Preferred Label : Optic nerve hypoplasia, bilateral;

Type : Phenotype, molecular basis known;

Included titles and symbols : Optic nerve aplasia, bilateral;

Inheritance : Autosomal dominant;

Prefixed ID : #165550;

Details

Origin ID

165550;

UMLS CUI

C1833797;

Automatic exact mappings (from CISMeF team)
- Isolated optic nerve hypoplasia/aplasia [ORDO Disease]
- bilateral optic nerve hypoplasia [DO Concept]
- optic nerve aplasia, bilateral [MeSH concept]
- optic nerve aplasia, bilateral [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bilateral Optic Nerve Hypoplasia [NCIt concept]
- bilateral optic nerve hypoplasia [Disease (Nov.)]
- optic nerve hypoplasia, bilateral [MeSH concept]
- optic nerve hypoplasia, bilateral [MeSH Supplementary Concept]
DO Cross reference
- bilateral optic nerve hypoplasia [DO Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Morning glory anomaly [HPO term]
- Nystagmus [HPO term]
- Optic nerve aplasia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Reduced visual acuity [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Isolated optic nerve hypoplasia/aplasia [ORDO Disease]
Related ORDO disease(s)
- Isolated optic nerve hypoplasia/aplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral Optic Nerve Hypoplasia [NCIt concept]
- bilateral optic nerve hypoplasia [Disease (Nov.)]
- optic nerve hypoplasia, bilateral [MeSH Supplementary Concept]
- optic nerve hypoplasia, bilateral [MeSH concept]

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