Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 the integument (HP:0001574)

Parent Node:
Abnormality of skin adnexa physiology (HP:0025276)

..Starting node
..Anhidrosis (HP:0000970)

Term ID:

970

Name:

Anhidrosis

Synonym:

Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction

Definition:

Inability to sweat.

Comments:

Reference:

HP:0000970

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cold-induced sweating (HP:0025278)

Generalized anhidrosis (HP:0007459)

Gustatory sweating (HP:0025277)

Hypohidrosis or hyperhidrosis (HP:0007550)

Ipsilateral lack of facial sweating (HP:0007451)

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:0000970	HP:0000970	Anhidrosis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0000970	HP:0000970	Anhidrosis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0000970	HP:0000970	Anhidrosis	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0000970	HP:0000970	Anhidrosis	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000970	HP:0000970	Anhidrosis	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72
HP:0000970	HP:0000970	Anhidrosis	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000970	HP:0000970	Anhidrosis	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000970	HP:0000970	Anhidrosis	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000970	HP:0000970	Anhidrosis	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000970	HP:0000970	Anhidrosis	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000970	HP:0000970	Anhidrosis	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000970	HP:0000970	Anhidrosis	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000970	HP:0000970	Anhidrosis	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000970	HP:0000970	Anhidrosis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000970	HP:0000970	Anhidrosis	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0000970	HP:0000970	Anhidrosis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000970	HP:0000970	Anhidrosis	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0000970	HP:0000970	Anhidrosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0000970	HP:0000970	Anhidrosis	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional	20
HP:0000970	HP:0000970	Anhidrosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0000970	HP:0000970	Anhidrosis	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000970	HP:0000970	Anhidrosis	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0000970	HP:0000970	Anhidrosis	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0000970	HP:0000970	Anhidrosis	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0000970	HP:0000970	Anhidrosis	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0000970	HP:0000970	Anhidrosis	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0000970	HP:0000970	Anhidrosis	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0000970	HP:0000970	Anhidrosis	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0000970	HP:0000970	Anhidrosis	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (31) :ALOX12B ALOXE3 ALPK1 BCS1L CAMK2B CLDN10 COL25A1 COQ2 EDA EDAR EDARADD ERCC6 ERCC8 FUCA1 KIF1A KRT14 LMNB1 MBTPS2 NFKBIA NGF NGLY1 NTRK1 PERP PKP1 RETREG1 RYR1 SCN9A SPTLC2 TRPV3 WNK1 ZFHX4

Diseases (30) :OMIM:242100 OMIM:606545 OMIM:614979 OMIM:262000 OMIM:617799 OMIM:617671 ORPHA:91411 OMIM:146500 OMIM:305100 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:133540 OMIM:216400 OMIM:230000 OMIM:201300 ORPHA:69087 ORPHA:99027 ORPHA:659 OMIM:612132 ORPHA:64752 OMIM:608654 OMIM:615273 ORPHA:642 OMIM:256800 OMIM:619209 OMIM:604536 ORPHA:466650 OMIM:243000 OMIM:613640

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen