Anhidrosis, isolated, with normal sweat glands

Preferred Label : Anhidrosis, isolated, with normal sweat glands;

Symbol : ANHD;

CISMeF acronym : ANHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dann-epstein-sohar syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 1,4,5-triphosphate receptor, type 2 gene (ITPR2, 600144.0001);

Laboratory abnormalities : Normal electrolyte levels; Normal S-amylase levels;

Prefixed ID : #106190;

Details

Origin ID

106190;

UMLS CUI

C5568836;

Automatic exact mappings (from CISMeF team)
- Isolated generalized anhidrosis with normal sweat glands [ORDO Disease]
- isolated anhidrosis with normal sweat glands [DO Concept]
Currated CISMeF NLP mapping
- Isolated generalized anhidrosis with normal sweat glands (disorder) [SNOMED CT concept]
DO Cross reference
- isolated anhidrosis with normal sweat glands [DO Concept]
Genes related to phenotype
- Inositol 1,4,5-triphosphate receptor, type 2 [OMIM gene]
HPO term(s)
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized anhidrosis [HPO term]
- Heat intolerance [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Growth abnormality [HPO term]
ORDO concept(s)
- Isolated generalized anhidrosis with normal sweat glands [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated generalized anhidrosis with normal sweat glands (disorder) [SNOMED CT concept]

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