Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness

Preferred Label : Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness;

Symbol : RPSRDF;

Type : Phenotype, molecular basis known;

Prefixed ID : #300455;

Details

Origin ID

300455;

UMLS CUI

C2749137;

Automatic exact mappings (from CISMeF team)
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH Supplementary Concept]
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH concept]
Genes related to phenotype
- Retinitis pigmentosa gtpase regulator [OMIM gene]
HPO term(s)
- Atelectasis [HPO term]
- Chronic sinusitis [HPO term]
- High-frequency hearing impairment [HPO term]
- Otitis media [HPO term]
- Recurrent Haemophilus influenzae infections [HPO term]
- Recurrent bronchitis [HPO term]
- Rod-cone dystrophy [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH Supplementary Concept]
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH concept]

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