autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

human disease

Wikidata entity: Q55345873



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18037071 (BICD2) BICD2
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P1748 NCI Thesaurus ID String C191766 ???
P279 subclass of ... Q19001236 (nervous system heredodegenerative disease) nervous system heredodegenerative disease
P279 subclass of ... Q56014108 (autosomal dominant childhood-onset proximal spinal muscular atrophy) autosomal dominant childhood-onset proximal spinal muscular atrophy

External Ids
P4229ICD-10-CMG12.1
P5270Mondo IDMONDO_0014121
P492OMIM ID615290
P492OMIM ID615290
P1550Orphanet ID363454
P2892UMLS CUIC3809049
P2892UMLS CUIC4747715

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