hereditary spastic paraplegia 51
hereditary spastic paraplegia that has material basis in mutation in the AP4E1 gene on chromosome 15q21
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hereditary spastic paraplegia 51
Summary
hereditary spastic paraplegia 51 is a rare disease[1].
Key Facts
- hereditary spastic paraplegia 51's instance of is recorded as rare disease[2].
- hereditary spastic paraplegia 51's instance of is recorded as class of disease[3].
- hereditary spastic paraplegia 51's subclass of is recorded as hereditary spastic paraplegia[4].
- hereditary spastic paraplegia 51's subclass of is recorded as severe intellectual disability and progressive spastic paraplegia[5].
- hereditary spastic paraplegia 51's subclass of is recorded as autosomal recessive disease[6].
- hereditary spastic paraplegia 51's OMIM ID is recorded as 613744[7].
- hereditary spastic paraplegia 51's Disease Ontology ID is recorded as DOID:0110803[8].
- hereditary spastic paraplegia 51's Orphanet ID is recorded as 280763[9].
- hereditary spastic paraplegia 51's genetic association is recorded as AP4E1[10].
- hereditary spastic paraplegia 51's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110803[11].
- hereditary spastic paraplegia 51's exact match is recorded as http://identifiers.org/doid/DOID:0110803[12].
- hereditary spastic paraplegia 51's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_280763[13].
- hereditary spastic paraplegia 51's UMLS CUI is recorded as C3151056[14].
- hereditary spastic paraplegia 51's GARD rare disease ID is recorded as 10999[15].
- hereditary spastic paraplegia 51's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- hereditary spastic paraplegia 51's Mondo ID is recorded as MONDO_0013401[17].
- hereditary spastic paraplegia 51's UniProt disease ID is recorded as DI-03061[18].