About: hereditary spastic paraplegia 6

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A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has material basis in mutation in the NIPA1 gene on chromosome 15q11.2

Attributes	Values
rdf:type	Item
owl:sameAs	hereditary spastic paraplegia 6
description	A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has material basis in mutation in the NIPA1 gene on chromosome 15q11.2 (en)
exact match	wds:Q32143240-3C058B97-ED6D-44A3-AED0-70A3788D6384 wds:Q32143240-658C3BFF-5B6A-480C-9636-43CBE35D6DB6 wds:Q32143240-ADD0FC7F-7045-4525-BF62-63CCA6DDE680
exact match	http://purl.obolibrary.org/obo/DOID_0110811 http://identifiers.org/doid/DOID:0110811 http://www.orpha.net/ORDO/Orphanet_100988
health specialty	wds:Q32143240-7CAAEEC5-FDDE-4587-8CFC-0E0A9653A2FA
Mondo ID	wds:Q32143240-7479B688-A102-430B-BD72-246DB019DED8
Disease Ontology ID	wds:Q32143240-9A53FEC6-AFA8-405F-B5FA-98E1CC281DC7
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010878
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110811
health specialty	neurology
Mondo ID	MONDO_0010878
Disease Ontology ID	DOID:0110811
rdfs:label	hereditary spastic paraplegia 6 (en)
skos:prefLabel	hereditary spastic paraplegia 6 (en)
name	hereditary spastic paraplegia 6 (en)
instance of	wds:Q32143240-6FE93DDD-2207-43B1-B977-FBBC9E1819BC wds:Q32143240-8E7162A3-143D-4B99-B146-B486E479E94A
instance of	class of disease rare disease
subclass of	wds:Q32143240-13BBF6D0-4463-496C-A486-8DC5752DA036 wds:Q32143240-29F38D29-5259-4F0F-B1C1-78A188EA5366 wds:Q32143240-E0204A0F-7A20-48CB-A686-B9836B5877A7
subclass of	hereditary spastic paraplegia autosomal dominant disease pure or complex autosomal dominant spastic paraplegia
UniProt disease ID	wds:Q32143240-45d21aa2-42bb-be6a-e113-911df5e27433
Orphanet ID	wds:Q32143240-80328A85-00A0-4B71-B449-F2BF04D2C0C7
genetic association	wds:Q32143240-D4FE5BF1-9D6A-41B7-BE5A-1EBF936898F4
ICD-10-CM	wds:Q32143240-789FBDA3-1D08-46D0-BB71-66119DED738B
GARD rare disease ID	wds:Q32143240-DF9E4A64-C20C-46D6-B5D2-E0E7BFF47D19
OMIM ID	wds:Q32143240-36586CA4-6E76-46A6-87F4-95DDD058C24E
UniProt disease ID	DI-01037
Orphanet ID	100988
genetic association	NIPA1
ICD-10-CM	G11.4
GARD rare disease ID	4928
OMIM ID	600363
skos:altLabel	FSP3 (en) SPG6 (en) Familial Spastic Paraplegia, Autosomal Dominant, 3 (en) SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (en) SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 (en) autosomal dominant spastic paraplegia 6 (en) autosomal dominant spastic paraplegia type 6 (en) hereditary spastic paraplegia type 6 (en) autosomal dominant familial spastic paraplegia type 3 (en)
UMLS CUI	wds:Q32143240-844BE815-F40F-4489-8CD2-A53A46C4D37D
MeSH descriptor ID	wds:Q32143240-82BAF580-8F2B-435F-8890-316CFEC1E622
on focus list of Wikimedia project	wds:Q32143240-2DDD34CA-3741-474D-B618-6F9E056A2F5D
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536866
UMLS CUI	C1838192
MeSH descriptor ID	C536866
on focus list of Wikimedia project	WikiProject Medicine
is about of	hereditary spastic paraplegia 6 https://www.wikidata.org/wiki/Special:EntityData/Q32143240 Spastic paraplegia 6
is genetic association of	NIPA1
is genetic association of	wds:Q18049537-74972F65-41A6-4E6E-A98E-206A4072C984

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