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:
Abnormal sweat gland morphology (HP:0000971)

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

..Starting node
..Aplasia of the sweat glands (HP:0011136)

Term ID:

11136

Name:

Aplasia of the sweat glands

Synonym:

Absent sweat glands; Lack of sweat glands

Definition:

Absence of the sweat glands.

Comments:

Reference:

HP:0011136

Genes and Diseases:

Child Nodes:

........

Aplasia of the eccrine sweat glands (HP:0040042)

Sister Nodes:

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

Axillary apocrine gland hypoplasia (HP:0007397)

Hypoplastic sweat glands (HP:0007387)

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:0011136	HP:0011136	Aplasia of the sweat glands	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0011136	HP:0011136	Aplasia of the sweat glands	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0011136	HP:0011136	Aplasia of the sweat glands	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0011136	HP:0040042	Aplasia of the eccrine sweat glands	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52

Genes (3) :IKBKG NFKBIA NTRK1

Diseases (3) :OMIM:300291 OMIM:612132 ORPHA:642

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