Retinal dystrophy with or without extraocular anomalies

Preferred Label : Retinal dystrophy with or without extraocular anomalies;

Symbol : RDEOA;

CISMeF acronym : RDEOA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RCC1 domain- and BTB domain-containing protein-1 gene (RCBTB1, 607867.0001);

Prefixed ID : #617175;

Details

Origin ID

617175;

UMLS CUI

C4310680;

Currated CISMeF NLP mapping
- Retinal Dystrophy with or without Extraocular Anomalies [NCIt concept]
Genes related to phenotype
- Rcc1 domain- and btb domain-containing protein 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Goiter [HPO term]
- Intellectual disability, mild [HPO term]
- Juvenile onset [HPO term]
- Premature ovarian insufficiency [HPO term]
- Pulmonary fibrosis [HPO term]
- Reduced visual acuity [HPO term]
- Retinal dystrophy [HPO term]
- Secondary amenorrhea [HPO term]
ORDO concept(s)
- Reticular dystrophy of the retinal pigment epithelium [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinal Dystrophy with or without Extraocular Anomalies [NCIt concept]

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