Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the integument (HP:0001574)help
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Abnormality of skin adnexa physiology (HP:0025276)help
Term ID: 25276
Name: Abnormality of skin adnexa physiology
Synonym:
Definition: Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Comments:
Reference: HP:0025276
Genes and Diseases:
 
       Child Nodes:
........expandAnhidrosis (HP:0000970) help
........expandIpsilateral lack of facial sweating (HP:0007451) help
........expandGeneralized anhidrosis (HP:0007459) help
........expandHypohidrosis or hyperhidrosis (HP:0007550) help
................... HP:0000966 Hypohidrosis
................... HP:0000975 Hyperhidrosis
........expandGustatory sweating (HP:0025277) help
........expandCold-induced sweating (HP:0025278) help

 Sister Nodes: 
..expandAbnormal platysma muscle morphology (HP:3000013) help
..expandAbnormality of skin adnexa morphology (HP:0011138) help
..expandAbnormality of the skin (HP:0000951) 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:0025276HP:0025276Abnormality of skin adnexa physiology0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0025276HP:0025276Abnormality of skin adnexa physiology0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0025276HP:0025276Abnormality of skin adnexa physiology0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome72
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0025276HP:0025276Abnormality of skin adnexa physiology0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndrome6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0025276HP:0025276Abnormality of skin adnexa physiology0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndrome24
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia51
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythema1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0025276HP:0025276Abnormality of skin adnexa physiology0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 3462
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0025276HP:0025276Abnormality of skin adnexa physiology0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0025276HP:0025276Abnormality of skin adnexa physiology0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0025276HP:0025276Abnormality of skin adnexa physiology0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0025276HP:0025276Abnormality of skin adnexa physiology0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0025276HP:0025276Abnormality of skin adnexa physiology0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0025276HP:0025276Abnormality of skin adnexa physiology0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0025276HP:0025276Abnormality of skin adnexa physiology0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0025276HP:0025276Abnormality of skin adnexa physiology0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0025276HP:0025276Abnormality of skin adnexa physiology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0025276HP:0025276Abnormality of skin adnexa physiology0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ITPR2 CL E G H37096181OMIM:106190Anhidrosis, isolated, with normal sweat glands1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0025276HP:0025276Abnormality of skin adnexa physiology0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0025276HP:0025276Abnormality of skin adnexa physiology0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0025276HP:0025276Abnormality of skin adnexa physiology0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0025276HP:0025276Abnormality of skin adnexa physiology0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0025276HP:0025276Abnormality of skin adnexa physiology0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0025276HP:0025276Abnormality of skin adnexa physiology0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0025276HP:0025276Abnormality of skin adnexa physiology0MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT27
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 520
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 597
HP:0025276HP:0025276Abnormality of skin adnexa physiology0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0025276HP:0025276Abnormality of skin adnexa physiology0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0025276HP:0025276Abnormality of skin adnexa physiology0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0025276HP:0025276Abnormality of skin adnexa physiology0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0025276HP:0025276Abnormality of skin adnexa physiology0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndrome57
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0025276HP:0025276Abnormality of skin adnexa physiology0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII19
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive318
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SHQ1 CL E G H5516425543OMIM:619922
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndrome73
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndrome6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0025276HP:0025276Abnormality of skin adnexa physiology0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0025276HP:0025276Abnormality of skin adnexa physiology0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0025276HP:0025276Abnormality of skin adnexa physiology0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0025276HP:0025276Abnormality of skin adnexa physiology0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0025276HP:0025276Abnormality of skin adnexa physiology0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0025276HP:0025276Abnormality of skin adnexa physiology0THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis39
HP:0025276HP:0025276Abnormality of skin adnexa physiology0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0025276HP:0025276Abnormality of skin adnexa physiology0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0025276HP:0025276Abnormality of skin adnexa physiology0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0025276HP:0025276Abnormality of skin adnexa physiology0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0025276HP:0025276Abnormality of skin adnexa physiology0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0025276HP:0025276Abnormality of skin adnexa physiology0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0025276HP:0025276Abnormality of skin adnexa physiology0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia71
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0025276HP:0025276Abnormality of skin adnexa physiology0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0025276HP:0025276Abnormality of skin adnexa physiology0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0025276HP:0025276Abnormality of skin adnexa physiology0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0025276HP:0025277Gustatory sweating1 CL E G H
HP:0025276HP:0007451Ipsilateral lack of facial sweating1 CL E G H
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0025276HP:0000970Anhidrosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0025276HP:0000970Anhidrosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0025276HP:0000970Anhidrosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0025276HP:0000970Anhidrosis1ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss.
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0025276HP:0000970Anhidrosis1BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0025276HP:0000970Anhidrosis1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0025276HP:0025278Cold-induced sweating1CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndrome6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0025276HP:0000970Anhidrosis1CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0025276HP:0000970Anhidrosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0025276HP:0000970Anhidrosis1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CRLF1 CL E G H92442364ORPHA:1545Crisponi syndrome24
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia51
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythema1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0025276HP:0000970Anhidrosis1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0025276HP:0000970Anhidrosis1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia56
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0025276HP:0000970Anhidrosis1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0025276HP:0000970Anhidrosis1EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0025276HP:0000970Anhidrosis1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 3462
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0025276HP:0000970Anhidrosis1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0025276HP:0000970Anhidrosis1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0025276HP:0000970Anhidrosis1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0025276HP:0007459Generalized anhidrosis1ITPR2 CL E G H37096181OMIM:106190Anhidrosis, isolated, with normal sweat glands.1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0025276HP:0000970Anhidrosis1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0025276HP:0000970Anhidrosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0025276HP:0000970Anhidrosis1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0025276HP:0000970Anhidrosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT27
HP:0025276HP:0000970Anhidrosis1NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0025276HP:0000970Anhidrosis1NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent20
HP:0025276HP:0000970Anhidrosis1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type VHP:0040283 - Occasional20
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025276HP:0000970Anhidrosis1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0025276HP:0000970Anhidrosis1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0025276HP:0000970Anhidrosis1NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent97
HP:0025276HP:0000970Anhidrosis1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0025276HP:0000970Anhidrosis1PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0025276HP:0000970Anhidrosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0025276HP:0000970Anhidrosis1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0025276HP:0000970Anhidrosis1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndrome57
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0025276HP:0000970Anhidrosis1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII19
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive318
HP:0025276HP:0000970Anhidrosis1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0025276HP:0000970Anhidrosis1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SHQ1 CL E G H5516425543OMIM:619922
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndrome73
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndrome6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0025276HP:0000970Anhidrosis1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0025276HP:0000970Anhidrosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis39
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0025276HP:0000970Anhidrosis1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0025276HP:0000970Anhidrosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0025276HP:0000966Hypohidrosis2ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent130
HP:0025276HP:0000975Hyperhidrosis2ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0025276HP:0000966Hypohidrosis2ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0025276HP:0000975Hyperhidrosis2AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0025276HP:0000975Hyperhidrosis2AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0025276HP:0000975Hyperhidrosis2ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025276HP:0000966Hypohidrosis2ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent75
HP:0025276HP:0000966Hypohidrosis2ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040281 - Very frequent75
HP:0025276HP:0000966Hypohidrosis2ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent63
HP:0025276HP:0000966Hypohidrosis2ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040281 - Very frequent63
HP:0025276HP:0000966Hypohidrosis2ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0025276HP:0000966Hypohidrosis2ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2HP:0040283 - Occasional132
HP:0025276HP:0000966Hypohidrosis2ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0025276HP:0000966Hypohidrosis2ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040282 - Frequent166
HP:0025276HP:0000975Hyperhidrosis2ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0025276HP:0000975Hyperhidrosis2ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0025276HP:0000975Hyperhidrosis2BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040281 - Very frequent18
HP:0025276HP:0000975Hyperhidrosis2BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040281 - Very frequent
HP:0025276HP:0000975Hyperhidrosis2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0025276HP:0000975Hyperhidrosis2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0025276HP:0000975Hyperhidrosis2BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0025276HP:0000975Hyperhidrosis2CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0025276HP:0000975Hyperhidrosis2CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0025276HP:0000966Hypohidrosis2CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0025276HP:0000975Hyperhidrosis2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0025276HP:0000975Hyperhidrosis2CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0025276HP:0000975Hyperhidrosis2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0025276HP:0000975Hyperhidrosis2CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0025276HP:0000966Hypohidrosis2CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent5
HP:0025276HP:0000966Hypohidrosis2CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0025276HP:0000975Hyperhidrosis2CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0025276HP:0000975Hyperhidrosis2CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0025276HP:0000966Hypohidrosis2CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0025276HP:0000975Hyperhidrosis2CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276HP:0000975Hyperhidrosis2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0025276HP:0000966Hypohidrosis2CLDN10 CL E G H90712033OMIM:617671Helix syndrome.3
HP:0025276HP:0000966Hypohidrosis2COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0025276HP:0000966Hypohidrosis2COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0025276HP:0000966Hypohidrosis2COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0025276HP:0000966Hypohidrosis2COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0025276HP:0000975Hyperhidrosis2COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0025276HP:0000975Hyperhidrosis2COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0025276HP:0000975Hyperhidrosis2COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0025276HP:0000975Hyperhidrosis2COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0025276HP:0000966Hypohidrosis2COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0025276HP:0000966Hypohidrosis2CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0025276HP:0000975Hyperhidrosis2CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0025276HP:0000975Hyperhidrosis2CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0025276HP:0000966Hypohidrosis2CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0025276HP:0000966Hypohidrosis2CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent51
HP:0025276HP:0000975Hyperhidrosis2CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0025276HP:0000975Hyperhidrosis2CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0025276HP:0000966Hypohidrosis2CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0025276HP:0000975Hyperhidrosis2CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0025276HP:0000975Hyperhidrosis2CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythemaHP:0040283 - Occasional1
HP:0025276HP:0000975Hyperhidrosis2CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0025276HP:0000975Hyperhidrosis2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0025276HP:0000975Hyperhidrosis2DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0025276HP:0000975Hyperhidrosis2DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0025276HP:0000975Hyperhidrosis2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0025276HP:0000975Hyperhidrosis2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0025276HP:0000975Hyperhidrosis2DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0025276HP:0000975Hyperhidrosis2DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0025276HP:0000966Hypohidrosis2EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0025276HP:0000966Hypohidrosis2EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0025276HP:0000966Hypohidrosis2EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0025276HP:0000966Hypohidrosis2EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0025276HP:0000966Hypohidrosis2EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent86
HP:0025276HP:0000966Hypohidrosis2EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0025276HP:0000966Hypohidrosis2EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0025276HP:0000966Hypohidrosis2EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0025276HP:0000966Hypohidrosis2EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0025276HP:0000966Hypohidrosis2EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0025276HP:0000966Hypohidrosis2EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0025276HP:0000966Hypohidrosis2ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0025276HP:0000966Hypohidrosis2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0025276HP:0000975Hyperhidrosis2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0025276HP:0000975Hyperhidrosis2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0025276HP:0000975Hyperhidrosis2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0025276HP:0000966Hypohidrosis2ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0025276HP:0000966Hypohidrosis2ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent