Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 morphology (HP:0011138)

..Starting node
..Abnormal sweat gland morphology (HP:0000971)

Term ID:

971

Name:

Abnormal sweat gland morphology

Synonym:

Abnormalities of sweating; Abnormality of the sweat gland; Sweat gland disease

Definition:

Any structural abnormality of the sweat gland.

Comments:

Reference:

HP:0000971

Genes and Diseases:

Child Nodes:

........

Decreased number of sweat glands (HP:0007500)

........

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

................... HP:0007387 Hypoplastic sweat glands
................... HP:0007397 Axillary apocrine gland hypoplasia
................... HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands
................... HP:0011136 Aplasia of the sweat glands

Sister Nodes:

Abnormal hair morphology (HP:0001595)

Abnormality of the nail (HP:0001597)

Skin appendage neoplasm (HP:0012842)

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:0000971	HP:0000971	Abnormal sweat gland morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000971	HP:0000971	Abnormal sweat gland morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000971	HP:0034426	Chromhidrosis	1	CL E G H
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0000971	HP:0007500	Decreased number of sweat glands	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0000971	HP:0007500	Decreased number of sweat glands	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000971	HP:0011135	Aplasia/Hypoplasia of the sweat glands	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000971	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000971	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000971	HP:0011136	Aplasia of the sweat glands	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000971	HP:0007387	Hypoplastic sweat glands	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0000971	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000971	HP:0011136	Aplasia of the sweat glands	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0000971	HP:0011136	Aplasia of the sweat glands	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0000971	HP:0007397	Axillary apocrine gland hypoplasia	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0000971	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000971	HP:0040043	Hypoplasia of the eccrine sweat glands	3	CL E G H
HP:0000971	HP:0040042	Aplasia of the eccrine sweat glands	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52

Genes (10) :EDA IKBKG KDF1 KRT14 LMNA NFKBIA NTRK1 TBX3 TP63 ZMPSTE24

Diseases (9) :OMIM:305100 OMIM:300291 OMIM:617337 ORPHA:69087 ORPHA:1662 OMIM:612132 ORPHA:642 OMIM:181450 OMIM:129400

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

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