Spastic paraplegia, sensorineural deafness, impaired intellectual development, and progressive nephropathy

Preferred Label : Spastic paraplegia, sensorineural deafness, impaired intellectual development, and progressive nephropathy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy;

Inheritance : Autosomal dominant;

Prefixed ID : 182690;

Details

Origin ID

182690;

UMLS CUI

C1866853;

Automatic exact mappings (from CISMeF team)
- Fitzsimmons Walson Mellor syndrome [MeSH concept]
- Spastic paraplegia-nephritis-deafness syndrome [ORDO Disease]
- fitzsimmons walson mellor syndrome [MeSH Supplementary Concept]
- spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy [MeSH concept]
- spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- IgA deposition in the glomerulus [HPO term]
- Intellectual disability [HPO term]
- Nephropathy [HPO term]
- Spastic paraplegia [HPO term]
- Variable spastic paraplegia [HPO term]
ORDO concept(s)
- Spastic paraplegia-nephritis-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy [MeSH Supplementary Concept]
- spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy [MeSH concept]

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