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:
Aplasia/Hypoplasia of the sweat glands (HP:0011135)

Parent Node:
Aplasia of the sweat glands (HP:0011136)

Parent Node:
Aplasia/Hypoplastia of the eccrine sweat glands (HP:0007592)

..Starting node
..Aplasia of the eccrine sweat glands (HP:0040042)

Term ID:

40042

Name:

Aplasia of the eccrine sweat glands

Synonym:

Absent eccrine sweat glands

Definition:

Comments:

Reference:

HP:0040042

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the eccrine sweat glands (HP:0040043)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040042	HP:0040042	Aplasia of the eccrine sweat glands	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1	52

Genes (1) :IKBKG

Diseases (1) :OMIM:300291

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