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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02281 |
Isolated anhidrosis with normal sweat glands Dann-Epstein-Sohar syndrome |
... normal sweat glands (ANHD) is very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the ... | Skin disease | ITPR2 [HSA:3709] [KO:K04959] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |