Optic disc anomalies with retinal and/or macular dystrophy

Preferred Label : Optic disc anomalies with retinal and/or macular dystrophy;

Symbol : ODRMD;

CISMeF acronym : ODRMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SIX homeobox 6 gene (SIX6, 606326.0002);

Prefixed ID : #212550;

Détails

Origin ID

212550;

UMLS CUI

C4225424;

Automatic exact mappings (from CISMeF team)
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [ORDO Disease]
- Microphthalmia-cataract syndrome [ORDO Disease]
- optic disc anomalies with retinal and/or macular dystrophy [DO Concept]
Broader ORDO disease(s)
- Microphthalmia-cataract syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) [SNOMED CT concept]
- microphthalmia, isolated, with cataract 2 [MeSH concept]
- microphthalmia, isolated, with cataract 2 [MeSH Supplementary Concept]
DO Cross reference
- optic disc anomalies with retinal and/or macular dystrophy [DO Concept]
Genes related to phenotype
- Six homeobox 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Chorioretinal coloboma [HPO term]
- Glaucoma [HPO term]
- Horizontal nystagmus [HPO term]
- Iris coloboma [HPO term]
- Macular atrophy [HPO term]
- Microphthalmia [HPO term]
- Miosis [HPO term]
- Nystagmus [HPO term]
- Retinal detachment [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [ORDO Disease]
- Microphthalmia-cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) [SNOMED CT concept]

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