autosomal recessive spastic paraplegia type 76
hereditary spastic paraplegia that has material basis in mutation in the CAPN1 gene on chromosome 11q13
Press Enter · cited answer in seconds
0 sources
autosomal recessive spastic paraplegia type 76
Summary
autosomal recessive spastic paraplegia type 76 is a rare disease[1].
Key Facts
- autosomal recessive spastic paraplegia type 76's instance of is recorded as rare disease[2].
- autosomal recessive spastic paraplegia type 76's instance of is recorded as class of disease[3].
- autosomal recessive spastic paraplegia type 76's subclass of is recorded as hereditary spastic paraplegia[4].
- autosomal recessive spastic paraplegia type 76's subclass of is recorded as autosomal recessive complex spastic paraplegia[5].
- autosomal recessive spastic paraplegia type 76's subclass of is recorded as autosomal recessive disease[6].
- autosomal recessive spastic paraplegia type 76's OMIM ID is recorded as 616907[7].
- autosomal recessive spastic paraplegia type 76's Disease Ontology ID is recorded as DOID:0110821[8].
- autosomal recessive spastic paraplegia type 76's Orphanet ID is recorded as 488594[9].
- autosomal recessive spastic paraplegia type 76's NCI Thesaurus ID is recorded as C157150[10].
- autosomal recessive spastic paraplegia type 76's genetic association is recorded as CAPN1[11].
- autosomal recessive spastic paraplegia type 76's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110821[12].
- autosomal recessive spastic paraplegia type 76's exact match is recorded as http://identifiers.org/doid/DOID:0110821[13].
- autosomal recessive spastic paraplegia type 76's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_488594[14].
- autosomal recessive spastic paraplegia type 76's UMLS CUI is recorded as C4310800[15].
- autosomal recessive spastic paraplegia type 76's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- autosomal recessive spastic paraplegia type 76's Mondo ID is recorded as MONDO_0014827[17].
- autosomal recessive spastic paraplegia type 76's UniProt disease ID is recorded as DI-04733[18].