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	ORPHA:50943	Keratolytic winter erythema		1
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	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	OMIM:603543	Limb-Mammary 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: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: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	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:0000970	Anhidrosis	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0025276	HP:0007550	Hypohidrosis or hyperhidrosis	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	ORPHA:50943	Keratolytic winter erythema		1
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	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:0007550	Hypohidrosis or hyperhidrosis	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
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	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: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	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: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	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: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:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	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:0007550	Hypohidrosis or hyperhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		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: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	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:0000975	Hyperhidrosis	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
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	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: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	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