Human Phenotype Ontology

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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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000970	HP:0000970	Anhidrosis	0	BCS1L CL E G H	617	262000	Pili torti-deafness syndrome	262000	C0266006	OMIM	1	279	1020	603647
HP:0000970	HP:0000970	Anhidrosis	0	BCS1L CL E G H	617	262000	Pili torti-deafness syndrome	262000	C0266006	OMIM	1	249	1020	603647
HP:0000970	HP:0000970	Anhidrosis	0	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	460	3157	300451
HP:0000970	HP:0000970	Anhidrosis	0	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	495	3157	300451
HP:0000970	HP:0000970	Anhidrosis	0	EDAR CL E G H	10913	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	278	2895	604095
HP:0000970	HP:0000970	Anhidrosis	0	EDAR CL E G H	10913	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	291	2895	604095
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	194	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	188	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	614940	Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant	614940	C3541517	OMIM	1	188	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	614940	Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant	614940	C3541517	OMIM	1	194	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	614941	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	614941	C3539920	OMIM	1	194	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	EDARADD CL E G H	128178	614941	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	614941	C3539920	OMIM	1	188	14341	606603
HP:0000970	HP:0000970	Anhidrosis	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	825	3438	609413
HP:0000970	HP:0000970	Anhidrosis	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	946	3438	609413
HP:0000970	HP:0000970	Anhidrosis	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0000970	HP:0000970	Anhidrosis	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0000970	HP:0000970	Anhidrosis	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	137	4006	612280
HP:0000970	HP:0000970	Anhidrosis	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	188	4006	612280
HP:0000970	HP:0000970	Anhidrosis	0	ITPR2 CL E G H	3709	106190	Anhidrosis, isolated, with normal sweat glands	106190	C1862871	OMIM	1	65	6181	600144
HP:0000970	HP:0000970	Anhidrosis	0	ITPR2 CL E G H	3709	106190	Anhidrosis, isolated, with normal sweat glands	106190	C1862871	OMIM	1	66	6181	600144
HP:0000970	HP:0000970	Anhidrosis	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1735	888	601255
HP:0000970	HP:0000970	Anhidrosis	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1441	888	601255
HP:0000970	HP:0000970	Anhidrosis	0	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	1	242	15455	300294
HP:0000970	HP:0000970	Anhidrosis	0	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	1	231	15455	300294
HP:0000970	HP:0000970	Anhidrosis	0	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	152	7797	164008
HP:0000970	HP:0000970	Anhidrosis	0	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	176	7797	164008
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	64752				ORPHA	1	147	7808	162030
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	64752				ORPHA	1	121	7808	162030
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	64752				ORPHA	1	732	8031	191315
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	64752				ORPHA	1	820	8031	191315
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	732	8031	191315
HP:0000970	HP:0000970	Anhidrosis	0	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	820	8031	191315
HP:0000970	HP:0000970	Anhidrosis	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	368	25964	613114
HP:0000970	HP:0000970	Anhidrosis	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	416	25964	613114
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1708	10597	603415
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1438	10597	603415
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	243000	Indifference to pain, congenital, autosomal recessive	243000	C1855739	OMIM	1	1708	10597	603415
HP:0000970	HP:0000970	Anhidrosis	0	SCN9A CL E G H	6335	243000	Indifference to pain, congenital, autosomal recessive	243000	C1855739	OMIM	1	1438	10597	603415
HP:0000970	HP:0000970	Anhidrosis	0	SPTLC2 CL E G H	9517	613640	Hereditary sensory and autonomic neuropathy type IC	613640	C3150896	OMIM	1	484	11278	605713
HP:0000970	HP:0000970	Anhidrosis	0	SPTLC2 CL E G H	9517	613640	Hereditary sensory and autonomic neuropathy type IC	613640	C3150896	OMIM	1	444	11278	605713
HP:0000970	HP:0000970	Anhidrosis	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	444	15979	603273
HP:0000970	HP:0000970	Anhidrosis	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	376	15979	603273
HP:0000970	HP:0000970	Anhidrosis	0	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	1	329	18084	607066
HP:0000970	HP:0000970	Anhidrosis	0	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	1	337	18084	607066
HP:0000970	HP:0000970	Anhidrosis	0	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1096	14540	605232
HP:0000970	HP:0000970	Anhidrosis	0	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1258	14540	605232
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	608654	Congenital sensory neuropathy with selective loss of small myelinated fibers	608654	C0020075	OMIM	0	147	7808	162030
HP:0000970	HP:0000970	Anhidrosis	0	NGF CL E G H	4803	608654	Congenital sensory neuropathy with selective loss of small myelinated fibers	608654	C0020075	OMIM	0	121	7808	162030
HP:0000970	HP:0000970	Anhidrosis	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	381	17646	610661
HP:0000970	HP:0000970	Anhidrosis	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	485	17646	610661

Genes (20) :BCS1L EDA EDAR EDARADD ERCC6 ERCC8 FUCA1 ITPR2 KIF1A MBTPS2 NFKBIA NGF NGLY1 NTRK1 RETREG1 SCN9A SPTLC2 TP63 TRPV3 WNK1

Diseases (19) :262000 305100 224900 614940 614941 133540 216400 230000 106190 201300 659 612132 64752 608654 615273 256800 243000 613640 106260

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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