homocarnosinosis
http://purl.obolibrary.org/obo/MONDO_0009351
Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. [ Orphanet:2168 ]
Term info
- SCTID:61764000 (MONDO:equivalentTo)
- OMIM:236130 (Orphanet:2168/e)
- ICD9:277.89 (MONDO:relatedTo)
- Orphanet:2168 (OMIM:236130)
- DOID:0060177 (MONDO:equivalentTo)
- UMLS:C0268632 (Orphanet:2168/e)
- GARD:0002730 (MONDO:equivalentTo)
- UMLS:C3495554 (Orphanet:2168)
- MESH:C535328 (Orphanet:2168/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4985
Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.
http://purl.obolibrary.org/obo/Orphanet_2168, http://identifiers.org/snomedct/61764000, http://linkedlifedata.com/resource/umls/id/C0268632, https://omim.org/entry/236130, http://identifiers.org/mesh/C535328, http://purl.obolibrary.org/obo/DOID_0060177, http://linkedlifedata.com/resource/umls/id/C3495554
homocarnosinosis, Homocarnosinase deficiency
MONDO:0009351