hereditary spastic paraplegia 35

Summary

DOID:0110786 - hereditary spastic paraplegia 35

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.

Synonyms: autosomal recessive spastic paraplegia 35, autosomal recessive spastic paraplegia type 35, FAHN, fatty acid hydroxylase-associated neurodegeneration, leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia, SPG35

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fa2h

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012866 - hereditary spastic paraplegia 35

MONDO:0012866 - hereditary spastic paraplegia 35

MIM:

MIM:612319 - SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35

MIM:612319 - SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)