hereditary spastic paraplegia 2
hereditary spastic paraplegia that has material basis in mutation in the PLP1 gene on chromosome Xq22.2
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hereditary spastic paraplegia 2
Summary
hereditary spastic paraplegia 2 is a rare disease[1].
Key Facts
- hereditary spastic paraplegia 2's instance of is recorded as rare disease[2].
- hereditary spastic paraplegia 2's instance of is recorded as class of disease[3].
- hereditary spastic paraplegia 2's subclass of is recorded as hereditary spastic paraplegia[4].
- hereditary spastic paraplegia 2's subclass of is recorded as pure or complex X-linked spastic paraplegia[5].
- hereditary spastic paraplegia 2's subclass of is recorded as eye degenerative disease[6].
- hereditary spastic paraplegia 2's subclass of is recorded as complex hereditary spastic paraplegia[7].
- hereditary spastic paraplegia 2's subclass of is recorded as syndromic hereditary optic neuropathy[8].
- hereditary spastic paraplegia 2's subclass of is recorded as X-linked recessive disease[9].
- hereditary spastic paraplegia 2's MeSH descriptor ID is recorded as C536857[10].
- hereditary spastic paraplegia 2's OMIM ID is recorded as 312920[11].
- hereditary spastic paraplegia 2's Disease Ontology ID is recorded as DOID:0110773[12].
- hereditary spastic paraplegia 2's Orphanet ID is recorded as 99015[13].
- hereditary spastic paraplegia 2's health specialty is recorded as neurology[14].
- hereditary spastic paraplegia 2's genetic association is recorded as PLP1[15].
- hereditary spastic paraplegia 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110773[16].
- hereditary spastic paraplegia 2's exact match is recorded as http://identifiers.org/doid/DOID:0110773[17].
- hereditary spastic paraplegia 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_99015[18].
- hereditary spastic paraplegia 2's UMLS CUI is recorded as C1839264[19].
- hereditary spastic paraplegia 2's ICD-10-CM is recorded as G11.4[20].
- hereditary spastic paraplegia 2's GARD rare disease ID is recorded as 4923[21].
- hereditary spastic paraplegia 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- hereditary spastic paraplegia 2's Mondo ID is recorded as MONDO_0010733[23].
- hereditary spastic paraplegia 2's Genetics Home Reference Conditions ID is recorded as spastic-paraplegia-type-2[24].
- hereditary spastic paraplegia 2's UniProt disease ID is recorded as DI-01052[25].