Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormal sweat gland morphology (HP:0000971)help
..Starting node
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Aplasia/Hypoplasia of the sweat glands (HP:0011135)help
Term ID: 11135
Name: Aplasia/Hypoplasia of the sweat glands
Synonym: Absent/small sweat glands; Absent/underdeveloped sweat glands
Definition: Absence or developmental hypoplasia of the sweat glands.
Comments:
Reference: HP:0011135
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic sweat glands (HP:0007387) help
................... HP:0040043 Hypoplasia of the eccrine sweat glands
........expandAxillary apocrine gland hypoplasia (HP:0007397) help
........expandAplasia/Hypoplastia of the eccrine sweat glands (HP:0007592) help
................... HP:0040042 Aplasia of the eccrine sweat glands
................... HP:0040043 Hypoplasia of the eccrine sweat glands
........expandAplasia of the sweat glands (HP:0011136) help
................... HP:0040042 Aplasia of the eccrine sweat glands

 Sister Nodes: 
..expandDecreased number of sweat glands (HP:0007500) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type1
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT27
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0011135HP:0011135Aplasia/Hypoplasia of the sweat glands0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0011135HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0011135HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands1IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0011135HP:0011136Aplasia of the sweat glands1IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0011135HP:0007387Hypoplastic sweat glands1KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0011135HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0011135HP:0011136Aplasia of the sweat glands1NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0011135HP:0011136Aplasia of the sweat glands1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0011135HP:0007397Axillary apocrine gland hypoplasia1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0011135HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0011135HP:0040043Hypoplasia of the eccrine sweat glands2 CL E G H
HP:0011135HP:0040042Aplasia of the eccrine sweat glands2IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152


Genes (8) :EDA IKBKG KDF1 LMNA NFKBIA NTRK1 TBX3 ZMPSTE24

Diseases (7) :OMIM:305100 OMIM:300291 OMIM:617337 ORPHA:1662 OMIM:612132 ORPHA:642 OMIM:181450
 

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