isolated anhidrosis with normal sweat glands

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Summary

Literature (0)

DOID:0060603 - isolated anhidrosis with normal sweat glands

Disease Ontology Definition:An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.

Synonyms: Dann-Epstein-Sohar syndrome

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

: itpr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007118 - umbilicus

MONDO:0007118 - umbilicus

MIM:

MIM:106190 - ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD

MIM:106190 - ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD

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

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

Parent(s): anhidrosis (is_a)