ZFIN Human Disease: hereditary spastic paraplegia 9A

OBO ID: DOID:0110824

Term Name:	hereditary spastic paraplegia 9A		Search Ontology:
Synonyms:	AD-SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome SPG9A
Definition:	A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/26026163
References:	ICD10CM:G11.4 OMIM:601162 ORDO:100990 ORDO:447753
Ontology:	Human Disease ( DOID:0110824 )

Relationships

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

OTHER hereditary spastic paraplegia 9A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALDH18A1	aldh18a1	Spastic paraplegia 9A, autosomal dominant	601162

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None