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:
Abnormality of skin adnexa physiology (HP:0025276)

Parent Node:
Hypohidrosis or hyperhidrosis (HP:0007550)

..Starting node
..Hyperhidrosis (HP:0000975)

Term ID:

975

Name:

Hyperhidrosis

Synonym:

Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased

Definition:

Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.

Comments:

Reference:

HP:0000975

Genes and Diseases:

Child Nodes:

........

Episodic hyperhidrosis (HP:0001069)

........

Palmar hyperhidrosis (HP:0006089)

................... HP:0007410 Palmoplantar hyperhidrosis

Sister Nodes:

Hypohidrosis (HP:0000966)

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:0000975	HP:0000975	Hyperhidrosis	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0000975	HP:0000975	Hyperhidrosis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000975	HP:0000975	Hyperhidrosis	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0000975	HP:0000975	Hyperhidrosis	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0000975	HP:0000975	Hyperhidrosis	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0000975	HP:0000975	Hyperhidrosis	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0000975	HP:0000975	Hyperhidrosis	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0000975	HP:0000975	Hyperhidrosis	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0000975	HP:0000975	Hyperhidrosis	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0000975	HP:0000975	Hyperhidrosis	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000975	HP:0000975	Hyperhidrosis	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000975	HP:0000975	Hyperhidrosis	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0000975	HP:0000975	Hyperhidrosis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0000975	HP:0000975	Hyperhidrosis	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0000975	HP:0000975	Hyperhidrosis	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000975	HP:0000975	Hyperhidrosis	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0000975	HP:0000975	Hyperhidrosis	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0000975	HP:0000975	Hyperhidrosis	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0000975	HP:0000975	Hyperhidrosis	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0000975	HP:0000975	Hyperhidrosis	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000975	HP:0000975	Hyperhidrosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0000975	HP:0000975	Hyperhidrosis	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0000975	HP:0000975	Hyperhidrosis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000975	HP:0000975	Hyperhidrosis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000975	HP:0000975	Hyperhidrosis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000975	HP:0000975	Hyperhidrosis	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0000975	HP:0000975	Hyperhidrosis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000975	HP:0000975	Hyperhidrosis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0000975	HP:0000975	Hyperhidrosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0000975	HP:0000975	Hyperhidrosis	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0000975	HP:0000975	Hyperhidrosis	0	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema	HP:0040283 - Occasional	1
HP:0000975	HP:0000975	Hyperhidrosis	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0000975	HP:0000975	Hyperhidrosis	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0000975	HP:0000975	Hyperhidrosis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0000975	HP:0000975	Hyperhidrosis	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000975	HP:0000975	Hyperhidrosis	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000975	HP:0000975	Hyperhidrosis	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0000975	HP:0000975	Hyperhidrosis	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000975	HP:0000975	Hyperhidrosis	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0000975	HP:0000975	Hyperhidrosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0000975	HP:0000975	Hyperhidrosis	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0000975	HP:0000975	Hyperhidrosis	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0000975	HP:0000975	Hyperhidrosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000975	HP:0000975	Hyperhidrosis	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0000975	HP:0000975	Hyperhidrosis	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0000975	HP:0000975	Hyperhidrosis	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0000975	HP:0000975	Hyperhidrosis	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0000975	HP:0000975	Hyperhidrosis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0000975	HP:0000975	Hyperhidrosis	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040282 - Frequent
HP:0000975	HP:0000975	Hyperhidrosis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000975	HP:0000975	Hyperhidrosis	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000975	HP:0000975	Hyperhidrosis	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000975	HP:0000975	Hyperhidrosis	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	4
HP:0000975	HP:0000975	Hyperhidrosis	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0000975	HP:0000975	Hyperhidrosis	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0000975	HP:0000975	Hyperhidrosis	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0000975	HP:0000975	Hyperhidrosis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0000975	HP:0000975	Hyperhidrosis	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0000975	HP:0000975	Hyperhidrosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0000975	HP:0000975	Hyperhidrosis	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0000975	HP:0000975	Hyperhidrosis	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0000975	HP:0000975	Hyperhidrosis	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0000975	HP:0000975	Hyperhidrosis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0000975	HP:0000975	Hyperhidrosis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0000975	HP:0000975	Hyperhidrosis	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0000975	HP:0000975	Hyperhidrosis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent	55
HP:0000975	HP:0000975	Hyperhidrosis	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0000975	HP:0000975	Hyperhidrosis	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	9
HP:0000975	HP:0000975	Hyperhidrosis	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0000975	HP:0000975	Hyperhidrosis	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0000975	HP:0000975	Hyperhidrosis	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0000975	HP:0000975	Hyperhidrosis	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0000975	HP:0000975	Hyperhidrosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0000975	HP:0000975	Hyperhidrosis	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent	222
HP:0000975	HP:0000975	Hyperhidrosis	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0000975	HP:0000975	Hyperhidrosis	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0000975	HP:0000975	Hyperhidrosis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0000975	HP:0000975	Hyperhidrosis	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0000975	HP:0000975	Hyperhidrosis	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0000975	HP:0000975	Hyperhidrosis	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0000975	HP:0000975	Hyperhidrosis	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0000975	HP:0000975	Hyperhidrosis	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0000975	HP:0000975	Hyperhidrosis	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	100
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	27
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	173
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0000975	HP:0000975	Hyperhidrosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	66
HP:0000975	HP:0000975	Hyperhidrosis	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0000975	HP:0000975	Hyperhidrosis	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0000975	HP:0000975	Hyperhidrosis	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000975	HP:0000975	Hyperhidrosis	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0000975	HP:0000975	Hyperhidrosis	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0000975	HP:0000975	Hyperhidrosis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0000975	HP:0000975	Hyperhidrosis	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0000975	HP:0000975	Hyperhidrosis	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0000975	HP:0000975	Hyperhidrosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0000975	HP:0000975	Hyperhidrosis	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0000975	HP:0000975	Hyperhidrosis	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0000975	HP:0000975	Hyperhidrosis	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0000975	HP:0000975	Hyperhidrosis	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0000975	HP:0000975	Hyperhidrosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0000975	HP:0000975	Hyperhidrosis	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0000975	HP:0000975	Hyperhidrosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000975	HP:0000975	Hyperhidrosis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0000975	HP:0000975	Hyperhidrosis	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0000975	HP:0000975	Hyperhidrosis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0000975	HP:0000975	Hyperhidrosis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0000975	HP:0000975	Hyperhidrosis	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare	97
HP:0000975	HP:0000975	Hyperhidrosis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000975	HP:0000975	Hyperhidrosis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0000975	HP:0000975	Hyperhidrosis	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000975	HP:0000975	Hyperhidrosis	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000975	HP:0000975	Hyperhidrosis	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent	86
HP:0000975	HP:0000975	Hyperhidrosis	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000975	HP:0000975	Hyperhidrosis	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional	3
HP:0000975	HP:0000975	Hyperhidrosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0000975	HP:0000975	Hyperhidrosis	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0000975	HP:0000975	Hyperhidrosis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000975	HP:0000975	Hyperhidrosis	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0000975	HP:0000975	Hyperhidrosis	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0000975	HP:0000975	Hyperhidrosis	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0000975	HP:0000975	Hyperhidrosis	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0000975	HP:0000975	Hyperhidrosis	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0000975	HP:0000975	Hyperhidrosis	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0000975	HP:0000975	Hyperhidrosis	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:0000975	HP:0000975	Hyperhidrosis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0000975	HP:0000975	Hyperhidrosis	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0000975	HP:0000975	Hyperhidrosis	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000975	HP:0000975	Hyperhidrosis	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0000975	HP:0000975	Hyperhidrosis	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0000975	HP:0000975	Hyperhidrosis	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0000975	HP:0000975	Hyperhidrosis	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type	HP:0040281 - Very frequent	4
HP:0000975	HP:0000975	Hyperhidrosis	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0000975	HP:0000975	Hyperhidrosis	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000975	HP:0000975	Hyperhidrosis	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0000975	HP:0000975	Hyperhidrosis	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0000975	HP:0000975	Hyperhidrosis	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0000975	HP:0000975	Hyperhidrosis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent	13
HP:0000975	HP:0000975	Hyperhidrosis	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda	HP:0040282 - Frequent	15
HP:0000975	HP:0000975	Hyperhidrosis	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0000975	HP:0000975	Hyperhidrosis	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0000975	HP:0000975	Hyperhidrosis	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000975	HP:0000975	Hyperhidrosis	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0000975	HP:0000975	Hyperhidrosis	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0000975	HP:0000975	Hyperhidrosis	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent	43
HP:0000975	HP:0000975	Hyperhidrosis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0000975	HP:0000975	Hyperhidrosis	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0000975	HP:0000975	Hyperhidrosis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0000975	HP:0000975	Hyperhidrosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0000975	HP:0000975	Hyperhidrosis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0000975	HP:0000975	Hyperhidrosis	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0000975	HP:0000975	Hyperhidrosis	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0000975	HP:0000975	Hyperhidrosis	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0000975	HP:0000975	Hyperhidrosis	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0000975	HP:0000975	Hyperhidrosis	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	HP:0040283 - Occasional	151
HP:0000975	HP:0000975	Hyperhidrosis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0000975	HP:0000975	Hyperhidrosis	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0000975	HP:0000975	Hyperhidrosis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0000975	HP:0000975	Hyperhidrosis	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0000975	HP:0000975	Hyperhidrosis	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0000975	HP:0000975	Hyperhidrosis	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0000975	HP:0000975	Hyperhidrosis	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0000975	HP:0000975	Hyperhidrosis	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0000975	HP:0000975	Hyperhidrosis	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0000975	HP:0000975	Hyperhidrosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000975	HP:0000975	Hyperhidrosis	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0000975	HP:0000975	Hyperhidrosis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0000975	HP:0000975	Hyperhidrosis	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0000975	HP:0000975	Hyperhidrosis	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0000975	HP:0006089	Palmar 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:0000975	HP:0001069	Episodic hyperhidrosis	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent	15
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0000975	HP:0001069	Episodic hyperhidrosis	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000975	HP:0006089	Palmar hyperhidrosis	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type	.	4
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0000975	HP:0007410	Palmoplantar hyperhidrosis	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71

Genes (143) :ABCC8 AIP ALDOB ATP1A2 ATP1A3 BCL10 BIRC3 BOLA3 BRAF CACNA1A CACNA1S CCND1 CDH23 CDKN2A CDSN CFTR CLCF1 CLCN6 CLCNKB COL17A1 COL6A1 COL6A2 COL6A3 CRLF1 CTC1 CTNNB1 CTSB CUL4B DDC DKC1 DLST DNMT3A DSG1 DST ELP1 EPAS1 FGFR2 FH FLRT1 FOXP1 FUCA1 GABRA3 GNA14 GPR101 GRB10 H19 HEXB HINT1 HLA-B HLA-DRB1 HMBS HNF1A HNF4A HNRNPK HPGD HRAS IGF2 IGH IGHMBP2 IKBKG IL12B JAK2 JUP KCNA1 KCNJ11 KCNJ18 KIF1A KIF1B KLC2 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT9 LAMB3 LIFR MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NF1 NGLY1 NHP2 NLRP3 NOP10 NPM1 NTRK1 P4HA2 PARN PERP PHOX2B PLAA PRKAR1A PRNP PTPN22 RET RETREG1 RSPO1 RTEL1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SERPINB7 SHQ1 SLC12A3 SLC18A2 SLC1A3 SLC25A11 SLC39A14 SLCO2A1 SLURP1 SPR SPRED2 SUCLG1 TAT TERC TERT THPO TINF2 TMEM127 TP53 TRPV3 TYMS UCP2 USB1 VHL WNK1 WNT10A WRAP53 YY1 ZNRF3

Diseases (109) :ORPHA:276575 ORPHA:963 ORPHA:99725 ORPHA:469 ORPHA:2131 ORPHA:52417 OMIM:614299 OMIM:115150 OMIM:613706 ORPHA:79102 ORPHA:892 ORPHA:91347 ORPHA:1501 OMIM:270300 ORPHA:498359 ORPHA:1545 OMIM:619173 ORPHA:358 ORPHA:79406 OMIM:254090 OMIM:272430 ORPHA:1775 OMIM:148370 ORPHA:50943 ORPHA:85293 OMIM:608643 OMIM:305000 ORPHA:29072 ORPHA:276621 OMIM:148700 OMIM:614653 ORPHA:1764 OMIM:223900 OMIM:101200 ORPHA:320406 ORPHA:349 ORPHA:1063 OMIM:300942 ORPHA:96182 ORPHA:231140 OMIM:268800 ORPHA:324442 OMIM:137200 ORPHA:397 ORPHA:3287 ORPHA:79276 ORPHA:324575 ORPHA:263455 ORPHA:352665 ORPHA:453504 OMIM:259100 ORPHA:2796 ORPHA:2874 OMIM:604320 ORPHA:464 ORPHA:71493 ORPHA:34217 ORPHA:37612 ORPHA:276580 ORPHA:970 OMIM:201300 OMIM:171300 OMIM:609541 ORPHA:2199 ORPHA:79400 ORPHA:2309 OMIM:167210 OMIM:615726 OMIM:226650 ORPHA:3206 OMIM:601559 OMIM:615279 OMIM:615280 ORPHA:659 ORPHA:97279 OMIM:615273 ORPHA:47045 ORPHA:642 OMIM:209880 ORPHA:2151 OMIM:617527 ORPHA:521426 OMIM:600072 OMIM:613115 OMIM:610644 OMIM:615548 OMIM:133020 OMIM:115310 OMIM:605373 OMIM:168000 ORPHA:140966 OMIM:615598 OMIM:619922 ORPHA:352649 OMIM:618049 OMIM:617013 OMIM:167100 OMIM:614441 ORPHA:87503 OMIM:248300 ORPHA:70594 OMIM:619745 ORPHA:17 OMIM:245400 ORPHA:28378 OMIM:614594 ORPHA:276556 OMIM:257980 OMIM:150400

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

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