Spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development

Preferred Label : Spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spastic quadriplegia, retinitis pigmentosa, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 270950;

Details

Origin ID

270950;

UMLS CUI

C1849112;

Currated CISMeF NLP mapping
- Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome [ORDO Disease]
- spastic quadriplegia, retinitis pigmentosa, and mental retardation [MeSH concept]
- spastic quadriplegia, retinitis pigmentosa, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Rod-cone dystrophy [HPO term]
- Spastic tetraplegia [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome [ORDO Disease]
- spastic quadriplegia, retinitis pigmentosa, and mental retardation [MeSH Supplementary Concept]
- spastic quadriplegia, retinitis pigmentosa, and mental retardation [MeSH concept]

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