Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the integument (HP:0001574)

..Starting node
..Abnormality of skin adnexa physiology (HP:0025276)

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:

........

Anhidrosis (HP:0000970)

........

Ipsilateral lack of facial sweating (HP:0007451)

........

Generalized anhidrosis (HP:0007459)

........

Hypohidrosis or hyperhidrosis (HP:0007550)

................... HP:0000966 Hypohidrosis
................... HP:0000975 Hyperhidrosis

........

Gustatory sweating (HP:0025277)

........

Cold-induced sweating (HP:0025278)

Sister Nodes:

Abnormal platysma muscle morphology (HP:3000013)

Abnormality of skin adnexa morphology (HP:0011138)

Abnormality of the skin (HP:0000951)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma		18
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		51
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34		62
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis		63
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma		184
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma		7
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		276
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis		110
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome		57
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		318
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome		73
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis		19
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		39
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0025276	HP:0025276	Abnormality of skin adnexa physiology	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025276	HP:0025277	Gustatory sweating	1	CL E G H
HP:0025276	HP:0007451	Ipsilateral lack of facial sweating	1	CL E G H
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0025276	HP:0000970	Anhidrosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0025276	HP:0000970	Anhidrosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0025276	HP:0000970	Anhidrosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0025276	HP:0000970	Anhidrosis	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma		18
HP:0025276	HP:0000970	Anhidrosis	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0025276	HP:0000970	Anhidrosis	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0025276	HP:0025278	Cold-induced sweating	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0025276	HP:0000970	Anhidrosis	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:0025276	HP:0000970	Anhidrosis	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0025276	HP:0000970	Anhidrosis	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		51
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0025276	HP:0000970	Anhidrosis	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0025276	HP:0000970	Anhidrosis	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		56
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		56
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0025276	HP:0000970	Anhidrosis	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0025276	HP:0000970	Anhidrosis	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0025276	HP:0000970	Anhidrosis	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34		62
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0025276	HP:0000970	Anhidrosis	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0025276	HP:0000970	Anhidrosis	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis		63
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma		184
HP:0025276	HP:0000970	Anhidrosis	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma		7
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0025276	HP:0007459	Generalized anhidrosis	1	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands	.	1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		276
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0025276	HP:0000970	Anhidrosis	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0025276	HP:0000970	Anhidrosis	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0025276	HP:0000970	Anhidrosis	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0025276	HP:0000970	Anhidrosis	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0025276	HP:0000970	Anhidrosis	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0025276	HP:0000970	Anhidrosis	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0025276	HP:0000970	Anhidrosis	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional	20
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0025276	HP:0000970	Anhidrosis	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0025276	HP:0000970	Anhidrosis	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0025276	HP:0000970	Anhidrosis	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0025276	HP:0000970	Anhidrosis	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0025276	HP:0000970	Anhidrosis	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0025276	HP:0000970	Anhidrosis	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0025276	HP:0000970	Anhidrosis	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		54
HP:0025276	HP:0000970	Anhidrosis	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome		57
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0025276	HP:0000970	Anhidrosis	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		318
HP:0025276	HP:0000970	Anhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0025276	HP:0000970	Anhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome		73
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0025276	HP:0000970	Anhidrosis	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis		19
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0025276	HP:0000970	Anhidrosis	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		39
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		199
HP:0025276	HP:0000970	Anhidrosis	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0025276	HP:0000970	Anhidrosis	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025276	HP:0000966	Hypohidrosis	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	130
HP:0025276	HP:0000975	Hyperhidrosis	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0025276	HP:0000966	Hypohidrosis	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0025276	HP:0000975	Hyperhidrosis	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0025276	HP:0000975	Hyperhidrosis	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0025276	HP:0000975	Hyperhidrosis	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0025276	HP:0000966	Hypohidrosis	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	75
HP:0025276	HP:0000966	Hypohidrosis	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040281 - Very frequent	75
HP:0025276	HP:0000966	Hypohidrosis	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	63
HP:0025276	HP:0000966	Hypohidrosis	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040281 - Very frequent	63
HP:0025276	HP:0000966	Hypohidrosis	2	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	.	63
HP:0025276	HP:0000966	Hypohidrosis	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional	132
HP:0025276	HP:0000966	Hypohidrosis	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0025276	HP:0000966	Hypohidrosis	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040282 - Frequent	166
HP:0025276	HP:0000975	Hyperhidrosis	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0025276	HP:0000975	Hyperhidrosis	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0025276	HP:0000975	Hyperhidrosis	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0025276	HP:0000975	Hyperhidrosis	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0025276	HP:0000975	Hyperhidrosis	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025276	HP:0000975	Hyperhidrosis	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0025276	HP:0000975	Hyperhidrosis	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0025276	HP:0000975	Hyperhidrosis	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0025276	HP:0000975	Hyperhidrosis	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0025276	HP:0000966	Hypohidrosis	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0025276	HP:0000975	Hyperhidrosis	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0025276	HP:0000975	Hyperhidrosis	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0025276	HP:0000975	Hyperhidrosis	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0025276	HP:0000975	Hyperhidrosis	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025276	HP:0000966	Hypohidrosis	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	5
HP:0025276	HP:0000966	Hypohidrosis	2	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0025276	HP:0000975	Hyperhidrosis	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0025276	HP:0000966	Hypohidrosis	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0025276	HP:0000975	Hyperhidrosis	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0025276	HP:0000975	Hyperhidrosis	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0025276	HP:0000975	Hyperhidrosis	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0025276	HP:0000966	Hypohidrosis	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0025276	HP:0000966	Hypohidrosis	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025276	HP:0000966	Hypohidrosis	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0025276	HP:0000966	Hypohidrosis	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0025276	HP:0000966	Hypohidrosis	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0025276	HP:0000975	Hyperhidrosis	2	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0025276	HP:0000975	Hyperhidrosis	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0025276	HP:0000975	Hyperhidrosis	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0025276	HP:0000975	Hyperhidrosis	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0025276	HP:0000966	Hypohidrosis	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0025276	HP:0000975	Hyperhidrosis	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0025276	HP:0000966	Hypohidrosis	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0025276	HP:0000975	Hyperhidrosis	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0025276	HP:0000966	Hypohidrosis	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0025276	HP:0000966	Hypohidrosis	2	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	51
HP:0025276	HP:0000975	Hyperhidrosis	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0025276	HP:0000975	Hyperhidrosis	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0025276	HP:0000966	Hypohidrosis	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0025276	HP:0000975	Hyperhidrosis	2	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0025276	HP:0000975	Hyperhidrosis	2	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema	HP:0040283 - Occasional	1
HP:0025276	HP:0000975	Hyperhidrosis	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0025276	HP:0000975	Hyperhidrosis	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0025276	HP:0000975	Hyperhidrosis	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0025276	HP:0000975	Hyperhidrosis	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0025276	HP:0000975	Hyperhidrosis	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0000975	Hyperhidrosis	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0025276	HP:0000975	Hyperhidrosis	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0025276	HP:0000975	Hyperhidrosis	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0025276	HP:0000966	Hypohidrosis	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0025276	HP:0000966	Hypohidrosis	2	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0025276	HP:0000966	Hypohidrosis	2	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0025276	HP:0000966	Hypohidrosis	2	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0025276	HP:0000966	Hypohidrosis	2	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	86
HP:0025276	HP:0000966	Hypohidrosis	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0025276	HP:0000966	Hypohidrosis	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0025276	HP:0000966	Hypohidrosis	2	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0025276	HP:0000966	Hypohidrosis	2	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	56
HP:0025276	HP:0000966	Hypohidrosis	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0025276	HP:0000966	Hypohidrosis	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0025276	HP:0000966	Hypohidrosis	2	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0025276	HP:0000966	Hypohidrosis	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0025276	HP:0000975	Hyperhidrosis	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0025276	HP:0000975	Hyperhidrosis	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0025276	HP:0000975	Hyperhidrosis	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0025276	HP:0000966	Hypohidrosis	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0025276	HP:0000966	Hypohidrosis	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0025276	HP:0000966	Hypohidrosis	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0025276	HP:0000966	Hypohidrosis	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.	6
HP:0025276	HP:0000966	Hypohidrosis	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0025276	HP:0000975	Hyperhidrosis	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0025276	HP:0000975	Hyperhidrosis	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0025276	HP:0000966	Hypohidrosis	2	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis	HP:0040281 - Very frequent	63
HP:0025276	HP:0000975	Hyperhidrosis	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0025276	HP:0000975	Hyperhidrosis	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0025276	HP:0000975	Hyperhidrosis	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0025276	HP:0000975	Hyperhidrosis	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0025276	HP:0000966	Hypohidrosis	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0025276	HP:0000966	Hypohidrosis	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0025276	HP:0000966	Hypohidrosis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040282 - Frequent	199
HP:0025276	HP:0000966	Hypohidrosis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040282 - Frequent	56
HP:0025276	HP:0000966	Hypohidrosis	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0025276	HP:0000966	Hypohidrosis	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0025276	HP:0000966	Hypohidrosis	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional	24
HP:0025276	HP:0000975	Hyperhidrosis	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040282 - Frequent
HP:0025276	HP:0000975	Hyperhidrosis	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0025276	HP:0000975	Hyperhidrosis	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0025276	HP:0000975	Hyperhidrosis	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0025276	HP:0000975	Hyperhidrosis	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	4
HP:0025276	HP:0000966	Hypohidrosis	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0025276	HP:0000966	Hypohidrosis	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0025276	HP:0000975	Hyperhidrosis	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0025276	HP:0000975	Hyperhidrosis	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0025276	HP:0000975	Hyperhidrosis	2	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0025276	HP:0000975	Hyperhidrosis	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0025276	HP:0000975	Hyperhidrosis	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0025276	HP:0000975	Hyperhidrosis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0025276	HP:0000975	Hyperhidrosis	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0025276	HP:0000975	Hyperhidrosis	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0025276	HP:0000975	Hyperhidrosis	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0025276	HP:0000975	Hyperhidrosis	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0025276	HP:0000975	Hyperhidrosis	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0025276	HP:0000975	Hyperhidrosis	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0025276	HP:0000975	Hyperhidrosis	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent	55
HP:0025276	HP:0000975	Hyperhidrosis	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0025276	HP:0000975	Hyperhidrosis	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	9
HP:0025276	HP:0000975	Hyperhidrosis	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0025276	HP:0000975	Hyperhidrosis	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0025276	HP:0000975	Hyperhidrosis	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0025276	HP:0000975	Hyperhidrosis	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0025276	HP:0000975	Hyperhidrosis	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0025276	HP:0000975	Hyperhidrosis	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent	222
HP:0025276	HP:0000975	Hyperhidrosis	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0025276	HP:0000975	Hyperhidrosis	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0025276	HP:0000975	Hyperhidrosis	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0025276	HP:0000966	Hypohidrosis	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0025276	HP:0000966	Hypohidrosis	2	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	1
HP:0025276	HP:0000966	Hypohidrosis	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0025276	HP:0000975	Hyperhidrosis	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0025276	HP:0000975	Hyperhidrosis	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0025276	HP:0000975	Hyperhidrosis	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0025276	HP:0000975	Hyperhidrosis	2	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0025276	HP:0000975	Hyperhidrosis	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0025276	HP:0000975	Hyperhidrosis	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	100
HP:0025276	HP:0000966	Hypohidrosis	2	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0025276	HP:0000966	Hypohidrosis	2	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0025276	HP:0000966	Hypohidrosis	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	27
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	173
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0025276	HP:0000975	Hyperhidrosis	2	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	66
HP:0025276	HP:0000975	Hyperhidrosis	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0025276	HP:0000966	Hypohidrosis	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0025276	HP:0000975	Hyperhidrosis	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0025276	HP:0000975	Hyperhidrosis	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0025276	HP:0000966	Hypohidrosis	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0025276	HP:0000966	Hypohidrosis	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0025276	HP:0000966	Hypohidrosis	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0025276	HP:0000975	Hyperhidrosis	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0025276	HP:0000975	Hyperhidrosis	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0025276	HP:0000975	Hyperhidrosis	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0025276	HP:0000975	Hyperhidrosis	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0025276	HP:0000975	Hyperhidrosis	2	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0025276	HP:0000966	Hypohidrosis	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0025276	HP:0000966	Hypohidrosis	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0025276	HP:0000975	Hyperhidrosis	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0025276	HP:0000975	Hyperhidrosis	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0025276	HP:0000975	Hyperhidrosis	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0025276	HP:0000975	Hyperhidrosis	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0025276	HP:0000975	Hyperhidrosis	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0025276	HP:0000975	Hyperhidrosis	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0025276	HP:0000966	Hypohidrosis	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0025276	HP:0000975	Hyperhidrosis	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0025276	HP:0000966	Hypohidrosis	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0025276	HP:0000975	Hyperhidrosis	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0025276	HP:0000975	Hyperhidrosis	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0025276	HP:0000966	Hypohidrosis	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	60
HP:0025276	HP:0000966	Hypohidrosis	2	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	HP:0040283 - Occasional	60
HP:0025276	HP:0000975	Hyperhidrosis	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0025276	HP:0000975	Hyperhidrosis	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0025276	HP:0000975	Hyperhidrosis	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0025276	HP:0000975	Hyperhidrosis	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare	97
HP:0025276	HP:0000966	Hypohidrosis	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0025276	HP:0000975	Hyperhidrosis	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0025276	HP:0000975	Hyperhidrosis	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0025276	HP:0000975	Hyperhidrosis	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276	HP:0000975	Hyperhidrosis	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0025276	HP:0000975	Hyperhidrosis	2	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent	86
HP:0025276	HP:0000966	Hypohidrosis	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent	107
HP:0025276	HP:0000975	Hyperhidrosis	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0025276	HP:0000975	Hyperhidrosis	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional	3
HP:0025276	HP:0000966	Hypohidrosis	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	47
HP:0025276	HP:0000966	Hypohidrosis	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0025276	HP:0000966	Hypohidrosis	2	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	.	6
HP:0025276	HP:0000975	Hyperhidrosis	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0025276	HP:0000975	Hyperhidrosis	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0025276	HP:0000966	Hypohidrosis	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0025276	HP:0000975	Hyperhidrosis	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0025276	HP:0000975	Hyperhidrosis	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0025276	HP:0000975	Hyperhidrosis	2	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0025276	HP:0000975	Hyperhidrosis	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0025276	HP:0000975	Hyperhidrosis	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0025276	HP:0000975	Hyperhidrosis	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0025276	HP:0000975	Hyperhidrosis	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0025276	HP:0000966	Hypohidrosis	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0025276	HP:0000966	Hypohidrosis	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040282 - Frequent	57
HP:0025276	HP:0000975	Hyperhidrosis	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0025276	HP:0000975	Hyperhidrosis	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0025276	HP:0000975	Hyperhidrosis	2	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0025276	HP:0000975	Hyperhidrosis	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0025276	HP:0000975	Hyperhidrosis	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0025276	HP:0000966	Hypohidrosis	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0025276	HP:0000975	Hyperhidrosis	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0025276	HP:0000975	Hyperhidrosis	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0025276	HP:0000975	Hyperhidrosis	2	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type	HP:0040281 - Very frequent	4
HP:0025276	HP:0000975	Hyperhidrosis	2	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0000966	Hypohidrosis	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0025276	HP:0000966	Hypohidrosis	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0025276	HP:0000975	Hyperhidrosis	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0025276	HP:0000966	Hypohidrosis	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040282 - Frequent	73
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025276	HP:0000975	Hyperhidrosis	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0025276	HP:0000975	Hyperhidrosis	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0025276	HP:0000975	Hyperhidrosis	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0025276	HP:0000975	Hyperhidrosis	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent	13
HP:0025276	HP:0000975	Hyperhidrosis	2	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda	HP:0040282 - Frequent	15
HP:0025276	HP:0000975	Hyperhidrosis	2	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0025276	HP:0000966	Hypohidrosis	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent	6
HP:0025276	HP:0000966	Hypohidrosis	2	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0025276	HP:0000966	Hypohidrosis	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025276	HP:0000966	Hypohidrosis	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional	61
HP:0025276	HP:0000966	Hypohidrosis	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0025276	HP:0000966	Hypohidrosis	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0025276	HP:0000975	Hyperhidrosis	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0025276	HP:0000975	Hyperhidrosis	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0025276	HP:0000966	Hypohidrosis	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0025276	HP:0000966	Hypohidrosis	2	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0025276	HP:0000966	Hypohidrosis	2	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis	HP:0040281 - Very frequent	19
HP:0025276	HP:0000966	Hypohidrosis	2	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040281 - Very frequent	19
HP:0025276	HP:0000975	Hyperhidrosis	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0025276	HP:0000975	Hyperhidrosis	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025276	HP:0000975	Hyperhidrosis	2	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent	43
HP:0025276	HP:0000975	Hyperhidrosis	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0025276	HP:0000975	Hyperhidrosis	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0025276	HP:0000975	Hyperhidrosis	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0025276	HP:0000966	Hypohidrosis	2	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional	98
HP:0025276	HP:0000966	Hypohidrosis	2	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	98
HP:0025276	HP:0000975	Hyperhidrosis	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0025276	HP:0000975	Hyperhidrosis	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0025276	HP:0000975	Hyperhidrosis	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0025276	HP:0000975	Hyperhidrosis	2	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0025276	HP:0000975	Hyperhidrosis	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0025276	HP:0000966	Hypohidrosis	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0025276	HP:0000966	Hypohidrosis	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0025276	HP:0000966	Hypohidrosis	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0025276	HP:0000966	Hypohidrosis	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0025276	HP:0000966	Hypohidrosis	2	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0025276	HP:0000966	Hypohidrosis	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0025276	HP:0000975	Hyperhidrosis	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0025276	HP:0000975	Hyperhidrosis	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	HP:0040283 - Occasional	151
HP:0025276	HP:0000966	Hypohidrosis	2	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	HP:0040284 - Very rare	39
HP:0025276	HP:0000975	Hyperhidrosis	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0025276	HP:0000975	Hyperhidrosis	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0025276	HP:0000975	Hyperhidrosis	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0025276	HP:0000975	Hyperhidrosis	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0025276	HP:0000975	Hyperhidrosis	2	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0025276	HP:0000975	Hyperhidrosis	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0025276	HP:0000975	Hyperhidrosis	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0025276	HP:0000975	Hyperhidrosis	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0025276	HP:0000975	Hyperhidrosis	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0025276	HP:0000966	Hypohidrosis	2	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	71
HP:0025276	HP:0000966	Hypohidrosis	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0025276	HP:0000975	Hyperhidrosis	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0025276	HP:0000966	Hypohidrosis	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0025276	HP:0000975	Hyperhidrosis	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0025276	HP:0000975	Hyperhidrosis	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0025276	HP:0000975	Hyperhidrosis	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0025276	HP:0000966	Hypohidrosis	2	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0025276	HP:0000975	Hyperhidrosis	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0025276	HP:0007480	Decreased sweating due to autonomic dysfunction	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0025276	HP:0007480	Decreased sweating due to autonomic dysfunction	3	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025276	HP:0034012	Palmoplantar hypohidrosis	3	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent	15
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0025276	HP:0001069	Episodic hyperhidrosis	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0025276	HP:0006089	Palmar hyperhidrosis	3	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type	.	4
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0025276	HP:0007410	Palmoplantar hyperhidrosis	4	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71

Genes (217) :ABCA12 ABCC8 ADAT3 AIP ALDOB ALOX12B ALOXE3 ALPK1 ALX4 ARNT2 ARX ATL1 ATL3 ATP1A2 ATP1A3 BCL10 BCS1L BIRC3 BOLA3 BRAF CACNA1A CACNA1S CAMK2B CASK CCND1 CDH23 CDKN2A CDSN CERS3 CFTR CLCF1 CLCN6 CLCNKB CLDN10 COG6 COL11A1 COL17A1 COL25A1 COL6A1 COL6A2 COL6A3 COQ2 CRLF1 CST6 CSTB CTC1 CTNNB1 CTNS CTSB CUL4B DDC DKC1 DLST DNMT3A DSG1 DST EDA EDA2R EDAR EDARADD ELOVL4 ELP1 EPAS1 ERCC4 ERCC6 ERCC8 FAM111B FGFR1 FGFR2 FH FLG FLRT1 FOXP1 FUCA1 GABRA3 GHR GJB2 GJB6 GLA GMPPA GNA14 GPR101 GRB10 H19 HESX1 HEXB HINT1 HLA-B HLA-DRB1 HMBS HNF1A HNF4A HNRNPK HPGD HRAS IGF2 IGH IGHMBP2 IKBKG IL12B ITPR2 JAK2 JUP KCNA1 KCNJ11 KCNJ18 KCTD1 KDF1 KIF1A KIF1B KLC2 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT9 LAMB3 LIFR LMNB1 MADD MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NECTIN1 NF1 NFKBIA NGF NGLY1 NHP2 NIPAL4 NLRP3 NOP10 NPM1 NTRK1 OTX2 P4HA2 PARN PERP PHOX2B PKP1 PLAA PNPLA1 POLA1 PRDM12 PRKAR1A PRNP PROKR2 PTPN22 RET RETREG1 RIPK4 ROGDI RSPO1 RTEL1 RYR1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SERPINB7 SHANK3 SHQ1 SLC12A3 SLC13A5 SLC18A2 SLC1A3 SLC25A11 SLC39A14 SLCO2A1 SLURP1 SMARCAD1 SOX10 SOX2 SOX3 SPR SPRED2 SPTLC1 SPTLC2 STIM1 STS SUCLG1 TAT TERC TERT TGM1 THPO TINF2 TMEM127 TP53 TP63 TRAF6 TRIP4 TRPV3 TSPEAR TYMS UCP2 USB1 VHL WNK1 WNT10A WRAP53 YY1 ZFHX2 ZFHX4 ZNRF3

Diseases (197) :ORPHA:79394 ORPHA:276575 ORPHA:363528 ORPHA:963 ORPHA:99725 ORPHA:469 OMIM:242100 OMIM:606545 OMIM:614979 OMIM:613451 ORPHA:3157 ORPHA:452 ORPHA:36386 ORPHA:2131 ORPHA:52417 OMIM:262000 OMIM:614299 OMIM:115150 OMIM:613706 ORPHA:79102 OMIM:617799 OMIM:300749 ORPHA:892 ORPHA:91347 ORPHA:1501 OMIM:270300 OMIM:615023 ORPHA:498359 OMIM:610313 ORPHA:1545 OMIM:619173 ORPHA:358 OMIM:617671 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:560 ORPHA:79406 ORPHA:91411 OMIM:254090 OMIM:146500 OMIM:272430 OMIM:618535 ORPHA:248 ORPHA:1775 OMIM:219800 OMIM:148370 ORPHA:50943 ORPHA:85293 OMIM:608643 OMIM:305000 ORPHA:29072 ORPHA:276621 OMIM:148700 OMIM:614653 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 OMIM:614940 OMIM:614941 ORPHA:1955 ORPHA:1764 OMIM:223900 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:615704 OMIM:101200 ORPHA:461 ORPHA:320406 ORPHA:349 OMIM:230000 ORPHA:633 OMIM:148210 ORPHA:477 ORPHA:324 OMIM:301500 OMIM:615510 ORPHA:1063 OMIM:300942 ORPHA:96182 ORPHA:231140 OMIM:268800 ORPHA:324442 OMIM:137200 ORPHA:397 ORPHA:3287 ORPHA:79276 ORPHA:324575 ORPHA:263455 ORPHA:352665 ORPHA:453504 OMIM:259100 ORPHA:2796 ORPHA:2874 OMIM:604320 ORPHA:464 OMIM:106190 ORPHA:71493 ORPHA:34217 ORPHA:37612 ORPHA:276580 ORPHA:2036 OMIM:617337 ORPHA:970 OMIM:201300 OMIM:171300 OMIM:609541 ORPHA:2199 OMIM:125595 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:2309 OMIM:167210 OMIM:615726 OMIM:226650 ORPHA:3206 OMIM:601559 ORPHA:99027 OMIM:169500 OMIM:619004 OMIM:615279 OMIM:615280 ORPHA:2273 OMIM:308205 ORPHA:659 ORPHA:97279 ORPHA:3253 OMIM:612132 ORPHA:64752 OMIM:608654 OMIM:615273 OMIM:612281 ORPHA:47045 ORPHA:642 OMIM:256800 OMIM:619209 OMIM:209880 ORPHA:2151 ORPHA:158668 OMIM:604536 OMIM:617527 ORPHA:521426 OMIM:301220 OMIM:616488 OMIM:600072 OMIM:613115 ORPHA:1401 ORPHA:1946 OMIM:610644 ORPHA:466650 OMIM:615548 OMIM:133020 OMIM:243000 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:615598 ORPHA:140966 ORPHA:48652 OMIM:606232 OMIM:619922 ORPHA:352649 OMIM:618049 OMIM:617013 OMIM:167100 OMIM:614441 ORPHA:87503 OMIM:248300 ORPHA:1658 OMIM:129200 OMIM:609136 ORPHA:163746 ORPHA:70594 OMIM:619745 OMIM:613640 OMIM:612783 OMIM:308100 ORPHA:281090 ORPHA:17 OMIM:245400 ORPHA:28378 ORPHA:100976 ORPHA:1896 ORPHA:69085 OMIM:603543 OMIM:129400 OMIM:616866 OMIM:614594 OMIM:618180 ORPHA:276556 OMIM:257980 OMIM:150400 OMIM:147430

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

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