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
..Hypohidrosis (HP:0000966)

Term ID:

966

Name:

Hypohidrosis

Synonym:

Decreased ability to sweat; Decreased sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased

Definition:

Abnormally diminished capacity to sweat.

Comments:

Reference:

HP:0000966

Genes and Diseases:

Child Nodes:

........

Decreased sweating due to autonomic dysfunction (HP:0007480)

Sister Nodes:

Hyperhidrosis (HP:0000975)

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:0000966	HP:0000966	Hypohidrosis	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	130
HP:0000966	HP:0000966	Hypohidrosis	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000966	HP:0000966	Hypohidrosis	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	75
HP:0000966	HP:0000966	Hypohidrosis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040281 - Very frequent	75
HP:0000966	HP:0000966	Hypohidrosis	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	63
HP:0000966	HP:0000966	Hypohidrosis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040281 - Very frequent	63
HP:0000966	HP:0000966	Hypohidrosis	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	.	63
HP:0000966	HP:0000966	Hypohidrosis	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional	132
HP:0000966	HP:0000966	Hypohidrosis	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0000966	HP:0000966	Hypohidrosis	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040282 - Frequent	166
HP:0000966	HP:0000966	Hypohidrosis	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0000966	HP:0000966	Hypohidrosis	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	5
HP:0000966	HP:0000966	Hypohidrosis	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0000966	HP:0000966	Hypohidrosis	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0000966	HP:0000966	Hypohidrosis	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0000966	HP:0000966	Hypohidrosis	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000966	HP:0000966	Hypohidrosis	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0000966	HP:0000966	Hypohidrosis	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0000966	HP:0000966	Hypohidrosis	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0000966	HP:0000966	Hypohidrosis	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000966	HP:0000966	Hypohidrosis	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0000966	HP:0000966	Hypohidrosis	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0000966	HP:0000966	Hypohidrosis	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	51
HP:0000966	HP:0000966	Hypohidrosis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000966	HP:0000966	Hypohidrosis	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000966	HP:0000966	Hypohidrosis	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0000966	HP:0000966	Hypohidrosis	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000966	HP:0000966	Hypohidrosis	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0000966	HP:0000966	Hypohidrosis	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	86
HP:0000966	HP:0000966	Hypohidrosis	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000966	HP:0000966	Hypohidrosis	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000966	HP:0000966	Hypohidrosis	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0000966	HP:0000966	Hypohidrosis	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	56
HP:0000966	HP:0000966	Hypohidrosis	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000966	HP:0000966	Hypohidrosis	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000966	HP:0000966	Hypohidrosis	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0000966	HP:0000966	Hypohidrosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0000966	HP:0000966	Hypohidrosis	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0000966	HP:0000966	Hypohidrosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0000966	HP:0000966	Hypohidrosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0000966	HP:0000966	Hypohidrosis	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.	6
HP:0000966	HP:0000966	Hypohidrosis	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0000966	HP:0000966	Hypohidrosis	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis	HP:0040281 - Very frequent	63
HP:0000966	HP:0000966	Hypohidrosis	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0000966	HP:0000966	Hypohidrosis	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0000966	HP:0000966	Hypohidrosis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040282 - Frequent	199
HP:0000966	HP:0000966	Hypohidrosis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040282 - Frequent	56
HP:0000966	HP:0000966	Hypohidrosis	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0000966	HP:0000966	Hypohidrosis	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0000966	HP:0000966	Hypohidrosis	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional	24
HP:0000966	HP:0000966	Hypohidrosis	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0000966	HP:0000966	Hypohidrosis	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0000966	HP:0000966	Hypohidrosis	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0000966	HP:0000966	Hypohidrosis	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	1
HP:0000966	HP:0000966	Hypohidrosis	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0000966	HP:0000966	Hypohidrosis	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0000966	HP:0000966	Hypohidrosis	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0000966	HP:0000966	Hypohidrosis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000966	HP:0000966	Hypohidrosis	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0000966	HP:0000966	Hypohidrosis	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0000966	HP:0000966	Hypohidrosis	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0000966	HP:0000966	Hypohidrosis	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000966	HP:0000966	Hypohidrosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0000966	HP:0000966	Hypohidrosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000966	HP:0000966	Hypohidrosis	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0000966	HP:0000966	Hypohidrosis	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0000966	HP:0000966	Hypohidrosis	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	60
HP:0000966	HP:0000966	Hypohidrosis	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	HP:0040283 - Occasional	60
HP:0000966	HP:0000966	Hypohidrosis	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0000966	HP:0000966	Hypohidrosis	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent	107
HP:0000966	HP:0000966	Hypohidrosis	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	47
HP:0000966	HP:0000966	Hypohidrosis	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000966	HP:0000966	Hypohidrosis	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	.	6
HP:0000966	HP:0000966	Hypohidrosis	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0000966	HP:0000966	Hypohidrosis	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0000966	HP:0000966	Hypohidrosis	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040282 - Frequent	57
HP:0000966	HP:0000966	Hypohidrosis	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0000966	HP:0000966	Hypohidrosis	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000966	HP:0000966	Hypohidrosis	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000966	HP:0000966	Hypohidrosis	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040282 - Frequent	73
HP:0000966	HP:0000966	Hypohidrosis	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent	6
HP:0000966	HP:0000966	Hypohidrosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0000966	HP:0000966	Hypohidrosis	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000966	HP:0000966	Hypohidrosis	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional	61
HP:0000966	HP:0000966	Hypohidrosis	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0000966	HP:0000966	Hypohidrosis	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0000966	HP:0000966	Hypohidrosis	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0000966	HP:0000966	Hypohidrosis	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0000966	HP:0000966	Hypohidrosis	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis	HP:0040281 - Very frequent	19
HP:0000966	HP:0000966	Hypohidrosis	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040281 - Very frequent	19
HP:0000966	HP:0000966	Hypohidrosis	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional	98
HP:0000966	HP:0000966	Hypohidrosis	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	98
HP:0000966	HP:0000966	Hypohidrosis	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000966	HP:0000966	Hypohidrosis	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0000966	HP:0000966	Hypohidrosis	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0000966	HP:0000966	Hypohidrosis	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000966	HP:0000966	Hypohidrosis	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0000966	HP:0000966	Hypohidrosis	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0000966	HP:0000966	Hypohidrosis	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	HP:0040284 - Very rare	39
HP:0000966	HP:0000966	Hypohidrosis	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	71
HP:0000966	HP:0000966	Hypohidrosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000966	HP:0000966	Hypohidrosis	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0000966	HP:0000966	Hypohidrosis	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0000966	HP:0007480	Decreased sweating due to autonomic dysfunction	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0000966	HP:0007480	Decreased sweating due to autonomic dysfunction	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0000966	HP:0034012	Palmoplantar hypohidrosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6

Genes (71) :ABCA12 ADAT3 ALOX12B ALOXE3 ALX4 ARNT2 ARX CASK CERS3 CLCF1 CLDN10 COG6 COL11A1 COQ2 CRLF1 CST6 CSTB CTNS EDA EDA2R EDAR EDARADD ELOVL4 ELP1 ERCC4 ERCC6 ERCC8 FAM111B FGFR1 FLG GHR GJB2 GJB6 GLA GMPPA HESX1 HEXB KCTD1 KDF1 KRT14 LIFR LMNB1 MADD MBTPS2 NECTIN1 NFKBIA NIPAL4 OTX2 PKP1 PNPLA1 POLA1 PRDM12 PROKR2 RIPK4 ROGDI SCN9A SHANK3 SLC13A5 SMARCAD1 SOX10 SOX2 SOX3 STIM1 STS TGM1 TP63 TRAF6 TRIP4 TSPEAR WNT10A ZFHX2

Diseases (75) :ORPHA:79394 ORPHA:363528 OMIM:242100 OMIM:606545 OMIM:613451 ORPHA:3157 ORPHA:452 OMIM:300749 OMIM:615023 ORPHA:1545 OMIM:617671 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:560 OMIM:146500 OMIM:618535 ORPHA:248 OMIM:219800 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 ORPHA:1955 ORPHA:1764 ORPHA:90321 OMIM:615704 ORPHA:461 ORPHA:633 OMIM:148210 ORPHA:477 OMIM:301500 ORPHA:324 OMIM:615510 OMIM:268800 ORPHA:2036 OMIM:617337 OMIM:125595 OMIM:161000 ORPHA:69087 ORPHA:3206 ORPHA:99027 OMIM:169500 OMIM:619004 ORPHA:2273 OMIM:308205 ORPHA:3253 OMIM:612132 OMIM:612281 ORPHA:158668 OMIM:301220 OMIM:616488 ORPHA:1401 ORPHA:1946 OMIM:243000 ORPHA:48652 OMIM:606232 ORPHA:1658 OMIM:129200 OMIM:609136 ORPHA:163746 OMIM:612783 OMIM:308100 ORPHA:281090 ORPHA:100976 ORPHA:1896 ORPHA:69085 OMIM:603543 OMIM:129400 OMIM:616866 OMIM:618180 OMIM:257980 OMIM:150400 OMIM:147430

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

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