ZFIN Human Disease: hereditary spastic paraplegia 43

OBO ID: DOID:0110795

Term Name:	hereditary spastic paraplegia 43		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43 SPG43
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. https://www.ncbi.nlm.nih.gov/pubmed/23857908
References:	ICD10CM:G11.4 OMIM:615043 ORDO:320370
Ontology:	Human Disease ( DOID:0110795 )

Relationships

is a type of:	autosomal recessive disease hereditary spastic paraplegia autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

OTHER hereditary spastic paraplegia 43 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C19orf12	zgc:112052 si:ch211-260e23.7 si:ch211-260e23.8 zgc:101715	?Spastic paraplegia 43, autosomal recessive	615043

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None