Retinitis pigmentosa 80

Preferred Label : Retinitis pigmentosa 80;

Symbol : RP80;

CISMeF acronym : RP80;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intraflagellar transport 140 gene (IFT140, 614620.0002);

Prefixed ID : #617781;

Details

Origin ID

617781;

UMLS CUI

C4540439;

Genes related to phenotype
- Intraflagellar transport 140 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Global developmental delay [HPO term]
- Macular atrophy [HPO term]
- Progressive visual loss [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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