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

Term ID:

7592

Name:

Aplasia/Hypoplastia of the eccrine sweat glands

Synonym:

Hypoplastic-absent eccrine sweat glands

Definition:

Absence or developmental hypoplasia of the eccrine sweat glands.

Comments:

Reference:

HP:0007592

Genes and Diseases:

Child Nodes:

........

Aplasia of the eccrine sweat glands (HP:0040042)

........

Hypoplasia of the eccrine sweat glands (HP:0040043)

Sister Nodes:

Aplasia of the sweat glands (HP:0011136)

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:0007592	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0007592	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0007592	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0007592	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0007592	HP:0040043	Hypoplasia of the eccrine sweat glands	1	CL E G H
HP:0007592	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 (4) :EDA IKBKG LMNA ZMPSTE24

Diseases (3) :OMIM:305100 OMIM:300291 ORPHA:1662

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