Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the integument (HP:0001574)

Parent Node:
Abnormality of skin adnexa physiology (HP:0025276)

..Starting node
..Generalized anhidrosis (HP:0007459)

Term ID:

7459

Name:

Generalized anhidrosis

Synonym:

Generalised anhidrosis; Generalised anhydrosis; Generalised inability to sweat; Generalized anhydrosis; Generalized inability to sweat

Definition:

Comments:

Reference:

HP:0007459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anhidrosis (HP:0000970)

Cold-induced sweating (HP:0025278)

Gustatory sweating (HP:0025277)

Hypohidrosis or hyperhidrosis (HP:0007550)

Ipsilateral lack of facial sweating (HP:0007451)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007459	HP:0007459	Generalized anhidrosis	0	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands	.	1

Genes (1) :ITPR2

Diseases (1) :OMIM:106190

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.