Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the integument (HP:0001574)help
Parent Node:
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Abnormality of skin adnexa physiology (HP:0025276)help
..Starting node
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Hypohidrosis or hyperhidrosis (HP:0007550)help
Term ID: 7550
Name: Hypohidrosis or hyperhidrosis
Synonym: Lack of sweating or excessive sweating
Definition:
Comments:
Reference: HP:0007550
Genes and Diseases:
 
       Child Nodes:
........expandHypohidrosis (HP:0000966) help
................... HP:0007480 Decreased sweating due to autonomic dysfunction
........expandHyperhidrosis (HP:0000975) help
................... HP:0001069 Episodic hyperhidrosis
................... HP:0006089 Palmar hyperhidrosis

 Sister Nodes: 
..expandAnhidrosis (HP:0000970) help
..expandCold-induced sweating (HP:0025278) help
..expandGeneralized anhidrosis (HP:0007459) help
..expandGustatory sweating (HP:0025277) help
..expandIpsilateral lack of facial sweating (HP:0007451) 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:0007550HP:0007550Hypohidrosis or hyperhidrosis0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndrome6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndrome24
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia51
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythema1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia56
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 3462
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT27
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndrome57
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII19
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive318
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SHQ1 CL E G H5516425543OMIM:619922
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndrome73
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndrome6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis39
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0007550HP:0007550Hypohidrosis or hyperhidrosis0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0007550HP:0000966Hypohidrosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent130
HP:0007550HP:0000975Hyperhidrosis1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0007550HP:0000966Hypohidrosis1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0007550HP:0000975Hyperhidrosis1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0007550HP:0000975Hyperhidrosis1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0007550HP:0000975Hyperhidrosis1ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0007550HP:0000966Hypohidrosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent75
HP:0007550HP:0000966Hypohidrosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040281 - Very frequent75
HP:0007550HP:0000966Hypohidrosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent63
HP:0007550HP:0000966Hypohidrosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040281 - Very frequent63
HP:0007550HP:0000966Hypohidrosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0007550HP:0000966Hypohidrosis1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2HP:0040283 - Occasional132
HP:0007550HP:0000966Hypohidrosis1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0007550HP:0000966Hypohidrosis1ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040282 - Frequent166
HP:0007550HP:0000975Hyperhidrosis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0007550HP:0000975Hyperhidrosis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0007550HP:0000975Hyperhidrosis1BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040281 - Very frequent18
HP:0007550HP:0000975Hyperhidrosis1BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040281 - Very frequent
HP:0007550HP:0000975Hyperhidrosis1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0007550HP:0000975Hyperhidrosis1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0007550HP:0000975Hyperhidrosis1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0007550HP:0000975Hyperhidrosis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0007550HP:0000975Hyperhidrosis1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0007550HP:0000966Hypohidrosis1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0007550HP:0000975Hyperhidrosis1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0007550HP:0000975Hyperhidrosis1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0007550HP:0000975Hyperhidrosis1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0007550HP:0000975Hyperhidrosis1CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0007550HP:0000966Hypohidrosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent5
HP:0007550HP:0000966Hypohidrosis1CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0007550HP:0000975Hyperhidrosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0007550HP:0000975Hyperhidrosis1CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0007550HP:0000966Hypohidrosis1CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0007550HP:0000975Hyperhidrosis1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0007550HP:0000975Hyperhidrosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0007550HP:0000966Hypohidrosis1CLDN10 CL E G H90712033OMIM:617671Helix syndrome.3
HP:0007550HP:0000966Hypohidrosis1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0007550HP:0000966Hypohidrosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0007550HP:0000966Hypohidrosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0007550HP:0000966Hypohidrosis1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0007550HP:0000975Hyperhidrosis1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0007550HP:0000975Hyperhidrosis1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0007550HP:0000975Hyperhidrosis1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0007550HP:0000975Hyperhidrosis1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0007550HP:0000966Hypohidrosis1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0007550HP:0000966Hypohidrosis1CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0007550HP:0000975Hyperhidrosis1CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0007550HP:0000975Hyperhidrosis1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0007550HP:0000966Hypohidrosis1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0007550HP:0000966Hypohidrosis1CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent51
HP:0007550HP:0000975Hyperhidrosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0007550HP:0000975Hyperhidrosis1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0007550HP:0000966Hypohidrosis1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0007550HP:0000975Hyperhidrosis1CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0007550HP:0000975Hyperhidrosis1CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythemaHP:0040283 - Occasional1
HP:0007550HP:0000975Hyperhidrosis1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0007550HP:0000975Hyperhidrosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0007550HP:0000975Hyperhidrosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0007550HP:0000975Hyperhidrosis1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0007550HP:0000975Hyperhidrosis1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0007550HP:0000975Hyperhidrosis1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0007550HP:0000975Hyperhidrosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0007550HP:0000975Hyperhidrosis1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0007550HP:0000966Hypohidrosis1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0007550HP:0000966Hypohidrosis1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0007550HP:0000966Hypohidrosis1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0007550HP:0000966Hypohidrosis1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0007550HP:0000966Hypohidrosis1EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent86
HP:0007550HP:0000966Hypohidrosis1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0007550HP:0000966Hypohidrosis1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0007550HP:0000966Hypohidrosis1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0007550HP:0000966Hypohidrosis1EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0007550HP:0000966Hypohidrosis1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0007550HP:0000966Hypohidrosis1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0007550HP:0000966Hypohidrosis1ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0007550HP:0000966Hypohidrosis1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0007550HP:0000975Hyperhidrosis1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0007550HP:0000975Hyperhidrosis1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0007550HP:0000975Hyperhidrosis1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0007550HP:0000966Hypohidrosis1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0007550HP:0000966Hypohidrosis1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0007550HP:0000966Hypohidrosis1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0007550HP:0000966Hypohidrosis1FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0007550HP:0000966Hypohidrosis1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0007550HP:0000975Hyperhidrosis1FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0007550HP:0000975Hyperhidrosis1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0007550HP:0000966Hypohidrosis1FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent63
HP:0007550HP:0000975Hyperhidrosis1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0007550HP:0000975Hyperhidrosis1FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040281 - Very frequent184
HP:0007550HP:0000975Hyperhidrosis1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0007550HP:0000975Hyperhidrosis1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0007550HP:0000966Hypohidrosis1GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0007550HP:0000966Hypohidrosis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0007550HP:0000966Hypohidrosis1GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0007550HP:0000966Hypohidrosis1GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0007550HP:0000966Hypohidrosis1GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0007550HP:0000966Hypohidrosis1GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0007550HP:0000966Hypohidrosis1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0007550HP:0000975Hyperhidrosis1GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040282 - Frequent
HP:0007550HP:0000975Hyperhidrosis1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0007550HP:0000975Hyperhidrosis1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0007550HP:0000975Hyperhidrosis1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0007550HP:0000975Hyperhidrosis1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040284 - Very rare4
HP:0007550HP:0000966Hypohidrosis1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0007550HP:0000966Hypohidrosis1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0007550HP:0000975Hyperhidrosis1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0007550HP:0000975Hyperhidrosis1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040284 - Very rare12
HP:0007550HP:0000975Hyperhidrosis1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0007550HP:0000975Hyperhidrosis1HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0007550HP:0000975Hyperhidrosis1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0007550HP:0000975Hyperhidrosis1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0007550HP:0000975Hyperhidrosis1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040284 - Very rare81
HP:0007550HP:0000975Hyperhidrosis1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0007550HP:0000975Hyperhidrosis1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0007550HP:0000975Hyperhidrosis1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0007550HP:0000975Hyperhidrosis1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0007550HP:0000975Hyperhidrosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0007550HP:0000975Hyperhidrosis1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent55
HP:0007550HP:0000975Hyperhidrosis1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0007550HP:0000975Hyperhidrosis1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040284 - Very rare9
HP:0007550HP:0000975Hyperhidrosis1IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040281 - Very frequent7
HP:0007550HP:0000975Hyperhidrosis1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0007550HP:0000975Hyperhidrosis1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0007550HP:0000975Hyperhidrosis1IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0007550HP:0000975Hyperhidrosis1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0007550HP:0000975Hyperhidrosis1JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040282 - Frequent222
HP:0007550HP:0000975Hyperhidrosis1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0007550HP:0000975Hyperhidrosis1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0007550HP:0000975Hyperhidrosis1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0007550HP:0000966Hypohidrosis1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040283 - Occasional11
HP:0007550HP:0000966Hypohidrosis1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0007550HP:0000966Hypohidrosis1KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0007550HP:0000975Hyperhidrosis1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0007550HP:0000975Hyperhidrosis1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0007550HP:0000975Hyperhidrosis1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0007550HP:0000975Hyperhidrosis1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0007550HP:0000975Hyperhidrosis1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0007550HP:0000975Hyperhidrosis1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0007550HP:0000975Hyperhidrosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent100
HP:0007550HP:0000966Hypohidrosis1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0007550HP:0000975Hyperhidrosis1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0007550HP:0000966Hypohidrosis1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0007550HP:0000966Hypohidrosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0007550HP:0000975Hyperhidrosis1KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent27
HP:0007550HP:0000975Hyperhidrosis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0007550HP:0000975Hyperhidrosis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0007550HP:0000975Hyperhidrosis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0007550HP:0000975Hyperhidrosis1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional173
HP:0007550HP:0000975Hyperhidrosis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0007550HP:0000975Hyperhidrosis1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0007550HP:0000975Hyperhidrosis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0007550HP:0000975Hyperhidrosis1KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent66
HP:0007550HP:0000975Hyperhidrosis1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0007550HP:0000966Hypohidrosis1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0007550HP:0000975Hyperhidrosis1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0007550HP:0000975Hyperhidrosis1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0007550HP:0000966Hypohidrosis1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0007550HP:0000966Hypohidrosis1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0007550HP:0000966Hypohidrosis1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0007550HP:0000975Hyperhidrosis1MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040281 - Very frequent6
HP:0007550HP:0000975Hyperhidrosis1MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0007550HP:0000975Hyperhidrosis1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0007550HP:0000975Hyperhidrosis1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0007550HP:0000975Hyperhidrosis1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0007550HP:0000966Hypohidrosis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0007550HP:0000966Hypohidrosis1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0007550HP:0000975Hyperhidrosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0007550HP:0000975Hyperhidrosis1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0007550HP:0000975Hyperhidrosis1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0007550HP:0000975Hyperhidrosis1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0007550HP:0000975Hyperhidrosis1MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0007550HP:0000975Hyperhidrosis1MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0007550HP:0000966Hypohidrosis1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0007550HP:0000975Hyperhidrosis1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0007550HP:0000966Hypohidrosis1NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0007550HP:0000975Hyperhidrosis1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0007550HP:0000975Hyperhidrosis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0007550HP:0000966Hypohidrosis1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent60
HP:0007550HP:0000966Hypohidrosis1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6HP:0040283 - Occasional60
HP:0007550HP:0000975Hyperhidrosis1NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040281 - Very frequent217
HP:0007550HP:0000975Hyperhidrosis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0007550HP:0000975Hyperhidrosis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0007550HP:0000975Hyperhidrosis1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0007550HP:0000966Hypohidrosis1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0007550HP:0000975Hyperhidrosis1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0007550HP:0000975Hyperhidrosis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0007550HP:0000975Hyperhidrosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0007550HP:0000975Hyperhidrosis1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0007550HP:0000975Hyperhidrosis1PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0007550HP:0000966Hypohidrosis1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0007550HP:0000975Hyperhidrosis1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007550HP:0000975Hyperhidrosis1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040283 - Occasional3
HP:0007550HP:0000966Hypohidrosis1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent47
HP:0007550HP:0000966Hypohidrosis1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0007550HP:0000966Hypohidrosis1PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII.6
HP:0007550HP:0000975Hyperhidrosis1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0007550HP:0000975Hyperhidrosis1PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0007550HP:0000966Hypohidrosis1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0007550HP:0000975Hyperhidrosis1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0007550HP:0000975Hyperhidrosis1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0007550HP:0000975Hyperhidrosis1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0007550HP:0000975Hyperhidrosis1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0007550HP:0000975Hyperhidrosis1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0007550HP:0000975Hyperhidrosis1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0007550HP:0000975Hyperhidrosis1RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0007550HP:0000966Hypohidrosis1RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0007550HP:0000966Hypohidrosis1ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040282 - Frequent57
HP:0007550HP:0000975Hyperhidrosis1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0007550HP:0000975Hyperhidrosis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0007550HP:0000975Hyperhidrosis1SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII.19
HP:0007550HP:0000975Hyperhidrosis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0007550HP:0000975Hyperhidrosis1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0007550HP:0000966Hypohidrosis1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0007550HP:0000975Hyperhidrosis1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0007550HP:0000975Hyperhidrosis1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0007550HP:0000975Hyperhidrosis1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0007550HP:0000975Hyperhidrosis1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0007550HP:0000975Hyperhidrosis1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0007550HP:0000975Hyperhidrosis1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0007550HP:0000975Hyperhidrosis1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0007550HP:0000975Hyperhidrosis1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0007550HP:0000975Hyperhidrosis1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0007550HP:0000975Hyperhidrosis1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0007550HP:0000975Hyperhidrosis1SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0007550HP:0000975Hyperhidrosis1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0007550HP:0000975Hyperhidrosis1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0007550HP:0000975Hyperhidrosis1SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima typeHP:0040281 - Very frequent4
HP:0007550HP:0000975Hyperhidrosis1SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0007550HP:0000966Hypohidrosis1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0007550HP:0000966Hypohidrosis1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0007550HP:0000975Hyperhidrosis1SHQ1 CL E G H5516425543OMIM:619922
HP:0007550HP:0000975Hyperhidrosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0007550HP:0000966Hypohidrosis1SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040282 - Frequent73
HP:0007550HP:0000975Hyperhidrosis1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0007550HP:0000975Hyperhidrosis1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0007550HP:0000975Hyperhidrosis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0007550HP:0000975Hyperhidrosis1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0007550HP:0000975Hyperhidrosis1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0007550HP:0000975Hyperhidrosis1SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0007550HP:0000975Hyperhidrosis1SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0007550HP:0000975Hyperhidrosis1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent13
HP:0007550HP:0000975Hyperhidrosis1SLURP1 CL E G H5715218746ORPHA:87503Mal de MeledaHP:0040282 - Frequent15
HP:0007550HP:0000975Hyperhidrosis1SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0007550HP:0000966Hypohidrosis1SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndromeHP:0040282 - Frequent6
HP:0007550HP:0000966Hypohidrosis1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0007550HP:0000966Hypohidrosis1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0007550HP:0000966Hypohidrosis1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040283 - Occasional61
HP:0007550HP:0000966Hypohidrosis1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0007550HP:0000966Hypohidrosis1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0007550HP:0000975Hyperhidrosis1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0007550HP:0000975Hyperhidrosis1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0007550HP:0000966Hypohidrosis1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0007550HP:0000966Hypohidrosis1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0007550HP:0000966Hypohidrosis1STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0007550HP:0000966Hypohidrosis1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0007550HP:0000975Hyperhidrosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0007550HP:0000975Hyperhidrosis1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0007550HP:0000975Hyperhidrosis1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040282 - Frequent43
HP:0007550HP:0000975Hyperhidrosis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0007550HP:0000975Hyperhidrosis1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0007550HP:0000975Hyperhidrosis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0007550HP:0000966Hypohidrosis1TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0007550HP:0000966Hypohidrosis1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent98
HP:0007550HP:0000975Hyperhidrosis1THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0007550HP:0000975Hyperhidrosis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0007550HP:0000975Hyperhidrosis1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0007550HP:0000975Hyperhidrosis1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0007550HP:0000975Hyperhidrosis1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0007550HP:0000966Hypohidrosis1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0007550HP:0000966Hypohidrosis1TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0007550HP:0000966Hypohidrosis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0007550HP:0000966Hypohidrosis1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0007550HP:0000966Hypohidrosis1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0007550HP:0000966Hypohidrosis1TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0007550HP:0000975Hyperhidrosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0007550HP:0000975Hyperhidrosis1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaquesHP:0040283 - Occasional151
HP:0007550HP:0000966Hypohidrosis1TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisHP:0040284 - Very rare39
HP:0007550HP:0000975Hyperhidrosis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0007550HP:0000975Hyperhidrosis1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0007550HP:0000975Hyperhidrosis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0007550HP:0000975Hyperhidrosis1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0007550HP:0000975Hyperhidrosis1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0007550HP:0000975Hyperhidrosis1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0007550HP:0000975Hyperhidrosis1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0007550HP:0000975Hyperhidrosis1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0007550HP:0000975Hyperhidrosis1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0007550HP:0000966Hypohidrosis1WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent71
HP:0007550HP:0000966Hypohidrosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0007550HP:0000975Hyperhidrosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0007550HP:0000975Hyperhidrosis1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0007550HP:0000966Hypohidrosis1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0007550HP:0000975Hyperhidrosis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0007550HP:0000975Hyperhidrosis1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0007550HP:0000966Hypohidrosis1ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0007550HP:0000975Hyperhidrosis1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0007550HP:0001069Episodic hyperhidrosis2ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0007550HP:0001069Episodic hyperhidrosis2ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0007550HP:0006089Palmar hyperhidrosis2CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0007550HP:0006089Palmar hyperhidrosis2CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0007550HP:0006089Palmar hyperhidrosis2CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0007550HP:0001069Episodic hyperhidrosis2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0007550HP:0001069Episodic hyperhidrosis2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0007550HP:0001069Episodic hyperhidrosis2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0007550HP:0001069Episodic hyperhidrosis2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0007550HP:0001069Episodic hyperhidrosis2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0007550HP:0001069Episodic hyperhidrosis2HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0007550HP:0001069Episodic hyperhidrosis2KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040282 - Frequent127
HP:0007550HP:0001069Episodic hyperhidrosis2KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0007550HP:0001069Episodic hyperhidrosis2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0007550HP:0006089Palmar hyperhidrosis2KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0007550HP:0006089Palmar hyperhidrosis2KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0007550HP:0006089Palmar hyperhidrosis2KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0007550HP:0006089Palmar hyperhidrosis2KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0007550HP:0006089Palmar hyperhidrosis2KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0007550HP:0006089Palmar hyperhidrosis2LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0007550HP:0007480Decreased sweating due to autonomic dysfunction2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0007550HP:0007480Decreased sweating due to autonomic dysfunction2LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0007550HP:0001069Episodic hyperhidrosis2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0007550HP:0006089Palmar hyperhidrosis2MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0007550HP:0001069Episodic hyperhidrosis2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0007550HP:0001069Episodic hyperhidrosis2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0007550HP:0006089Palmar hyperhidrosis2PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0007550HP:0006089Palmar hyperhidrosis2PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007550HP:0001069Episodic hyperhidrosis2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0007550HP:0001069Episodic hyperhidrosis2RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0007550HP:0001069Episodic hyperhidrosis2RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0007550HP:0001069Episodic hyperhidrosis2RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0007550HP:0006089Palmar hyperhidrosis2RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0007550HP:0001069Episodic hyperhidrosis2SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0007550HP:0001069Episodic hyperhidrosis2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0007550HP:0001069Episodic hyperhidrosis2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0007550HP:0001069Episodic hyperhidrosis2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0007550HP:0001069Episodic hyperhidrosis2SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0007550HP:0001069Episodic hyperhidrosis2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0007550HP:0001069Episodic hyperhidrosis2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0007550HP:0001069Episodic hyperhidrosis2SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0007550HP:0006089Palmar hyperhidrosis2SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0007550HP:0001069Episodic hyperhidrosis2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0007550HP:0034012Palmoplantar hypohidrosis2SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0007550HP:0001069Episodic hyperhidrosis2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0007550HP:0006089Palmar hyperhidrosis2TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0007550HP:0001069Episodic hyperhidrosis2UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040282 - Frequent15
HP:0007550HP:0001069Episodic hyperhidrosis2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0007550HP:0001069Episodic hyperhidrosis2VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0007550HP:0001069Episodic hyperhidrosis2WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0007550HP:0006089Palmar hyperhidrosis2WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0007550HP:0006089Palmar hyperhidrosis2WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0007550HP:0007410Palmoplantar hyperhidrosis3CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0007550HP:0007410Palmoplantar hyperhidrosis3CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040282 - Frequent1371
HP:0007550HP:0007410Palmoplantar hyperhidrosis3CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema.1
HP:0007550HP:0007410Palmoplantar hyperhidrosis3KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0007550HP:0007410Palmoplantar hyperhidrosis3KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0007550HP:0007410Palmoplantar hyperhidrosis3KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0007550HP:0007410Palmoplantar hyperhidrosis3KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0007550HP:0007410Palmoplantar hyperhidrosis3KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0007550HP:0007410Palmoplantar hyperhidrosis3MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0007550HP:0007410Palmoplantar hyperhidrosis3PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0007550HP:0007410Palmoplantar hyperhidrosis3PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007550HP:0007410Palmoplantar hyperhidrosis3RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0007550HP:0007410Palmoplantar hyperhidrosis3SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type.4
HP:0007550HP:0007410Palmoplantar hyperhidrosis3TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0007550HP:0007410Palmoplantar hyperhidrosis3WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0007550HP:0007410Palmoplantar hyperhidrosis3WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471


Genes (209) :ABCA12 ABCC8 ADAT3 AIP ALDOB ALOX12B ALOXE3 ALX4 ARNT2 ARX ATL1 ATL3 ATP1A2 ATP1A3 BCL10 BIRC3 BOLA3 BRAF CACNA1A CACNA1S CASK CCND1 CDH23 CDKN2A CDSN CERS3 CFTR CLCF1 CLCN6 CLCNKB CLDN10 COG6 COL11A1 COL17A1 COL6A1 COL6A2 COL6A3 COQ2 CRLF1 CST6 CSTB CTC1 CTNNB1 CTNS CTSB CUL4B DDC DKC1 DLST DNMT3A DSG1 DST EDA EDA2R EDAR EDARADD ELOVL4 ELP1 EPAS1 ERCC4 ERCC6 ERCC8 FAM111B FGFR1 FGFR2 FH FLG FLRT1 FOXP1 FUCA1 GABRA3 GHR GJB2 GJB6 GLA GMPPA GNA14 GPR101 GRB10 H19 HESX1 HEXB HINT1 HLA-B HLA-DRB1 HMBS HNF1A HNF4A HNRNPK HPGD HRAS IGF2 IGH IGHMBP2 IKBKG IL12B JAK2 JUP KCNA1 KCNJ11 KCNJ18 KCTD1 KDF1 KIF1A KIF1B KLC2 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT9 LAMB3 LIFR LMNB1 MADD MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NECTIN1 NF1 NFKBIA NGLY1 NHP2 NIPAL4 NLRP3 NOP10 NPM1 NTRK1 OTX2 P4HA2 PARN PERP PHOX2B PKP1 PLAA PNPLA1 POLA1 PRDM12 PRKAR1A PRNP PROKR2 PTPN22 RET RETREG1 RIPK4 ROGDI RSPO1 RTEL1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SERPINB7 SHANK3 SHQ1 SLC12A3 SLC13A5 SLC18A2 SLC1A3 SLC25A11 SLC39A14 SLCO2A1 SLURP1 SMARCAD1 SOX10 SOX2 SOX3 SPR SPRED2 SPTLC1 SPTLC2 STIM1 STS SUCLG1 TAT TERC TERT TGM1 THPO TINF2 TMEM127 TP53 TP63 TRAF6 TRIP4 TRPV3 TSPEAR TYMS UCP2 USB1 VHL WNK1 WNT10A WRAP53 YY1 ZFHX2 ZNRF3

Diseases (179) :ORPHA:79394 ORPHA:276575 ORPHA:363528 ORPHA:963 ORPHA:99725 ORPHA:469 OMIM:242100 OMIM:606545 OMIM:613451 ORPHA:3157 ORPHA:452 ORPHA:36386 ORPHA:2131 ORPHA:52417 OMIM:614299 OMIM:115150 OMIM:613706 ORPHA:79102 OMIM:300749 ORPHA:892 ORPHA:91347 ORPHA:1501 OMIM:270300 OMIM:615023 ORPHA:498359 ORPHA:1545 OMIM:619173 ORPHA:358 OMIM:617671 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:560 ORPHA:79406 OMIM:254090 OMIM:146500 OMIM:272430 OMIM:618535 ORPHA:248 ORPHA:1775 OMIM:219800 OMIM:148370 ORPHA:50943 ORPHA:85293 OMIM:608643 OMIM:305000 ORPHA:29072 ORPHA:276621 OMIM:148700 OMIM:614653 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 ORPHA:1955 ORPHA:1764 OMIM:223900 ORPHA:90321 OMIM:615704 OMIM:101200 ORPHA:461 ORPHA:320406 ORPHA:349 ORPHA:633 OMIM:148210 ORPHA:477 OMIM:301500 ORPHA:324 OMIM:615510 ORPHA:1063 OMIM:300942 ORPHA:96182 ORPHA:231140 OMIM:268800 ORPHA:324442 OMIM:137200 ORPHA:397 ORPHA:3287 ORPHA:79276 ORPHA:324575 ORPHA:263455 ORPHA:352665 ORPHA:453504 OMIM:259100 ORPHA:2796 ORPHA:2874 OMIM:604320 ORPHA:464 ORPHA:71493 ORPHA:34217 ORPHA:37612 ORPHA:276580 ORPHA:2036 OMIM:617337 ORPHA:970 OMIM:201300 OMIM:171300 OMIM:609541 ORPHA:2199 OMIM:125595 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:2309 OMIM:167210 OMIM:615726 OMIM:226650 ORPHA:3206 OMIM:601559 ORPHA:99027 OMIM:169500 OMIM:619004 OMIM:615279 OMIM:615280 ORPHA:2273 OMIM:308205 ORPHA:659 ORPHA:97279 ORPHA:3253 OMIM:612132 OMIM:615273 OMIM:612281 ORPHA:47045 ORPHA:642 OMIM:209880 ORPHA:2151 ORPHA:158668 OMIM:617527 ORPHA:521426 OMIM:301220 OMIM:616488 OMIM:600072 OMIM:613115 ORPHA:1401 ORPHA:1946 OMIM:610644 OMIM:615548 OMIM:133020 OMIM:243000 OMIM:115310 OMIM:605373 OMIM:168000 ORPHA:140966 OMIM:615598 ORPHA:48652 OMIM:606232 OMIM:619922 ORPHA:352649 OMIM:618049 OMIM:617013 OMIM:167100 OMIM:614441 ORPHA:87503 OMIM:248300 ORPHA:1658 OMIM:129200 OMIM:609136 ORPHA:163746 ORPHA:70594 OMIM:619745 OMIM:612783 OMIM:308100 ORPHA:281090 ORPHA:17 OMIM:245400 ORPHA:28378 ORPHA:100976 ORPHA:1896 OMIM:603543 ORPHA:69085 OMIM:129400 OMIM:616866 OMIM:614594 OMIM:618180 ORPHA:276556 OMIM:257980 OMIM:150400 OMIM:147430
 

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