hereditary spastic paraplegia 49

Summary

DOID:0110801 - hereditary spastic paraplegia 49

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32.

Synonyms: autosomal recessive spastic paraplegia 49, autosomal recessive spastic paraplegia type 49, SPG49

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

: tecpr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014016 - hereditary spastic paraplegia 49

MONDO:0014016 - hereditary spastic paraplegia 49

MIM:

MIM:615031 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; HSAN9

MIM:615031 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; HSAN9

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)