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:
Peripheral neuropathy (HP:0009830)

Parent Node:
Somatic sensory dysfunction (HP:0003474)

..Starting node
..Impaired temperature sensation (HP:0010829)

Term ID:

10829

Name:

Impaired temperature sensation

Synonym:

Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation

Definition:

A reduced ability to discriminate between different temperatures.

Comments:

Reference:

HP:0010829

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of pain sensation (HP:0010832)

Dissociated sensory loss (HP:0010835)

Distal sensory impairment (HP:0002936)

Impaired proprioception (HP:0010831)

Impaired tactile sensation (HP:0010830)

Impaired vibratory sensation (HP:0002495)

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:0010829	HP:0010829	Impaired temperature sensation	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0010829	HP:0010829	Impaired temperature sensation	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0010829	HP:0010829	Impaired temperature sensation	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0010829	HP:0010829	Impaired temperature sensation	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0010829	HP:0010829	Impaired temperature sensation	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0010829	HP:0010829	Impaired temperature sensation	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0010829	HP:0010829	Impaired temperature sensation	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0010829	HP:0010829	Impaired temperature sensation	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0010829	HP:0010829	Impaired temperature sensation	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0010829	HP:0010829	Impaired temperature sensation	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0010829	HP:0010829	Impaired temperature sensation	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0010829	HP:0010829	Impaired temperature sensation	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0010829	HP:0010829	Impaired temperature sensation	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0010829	HP:0010829	Impaired temperature sensation	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0010829	HP:0010829	Impaired temperature sensation	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0010829	HP:0010829	Impaired temperature sensation	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0010829	HP:0010829	Impaired temperature sensation	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0010829	HP:0010829	Impaired temperature sensation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0010829	HP:0010829	Impaired temperature sensation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0010829	HP:0010829	Impaired temperature sensation	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0010829	HP:0010829	Impaired temperature sensation	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0010829	HP:0010829	Impaired temperature sensation	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0010829	HP:0010829	Impaired temperature sensation	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0010829	HP:0010829	Impaired temperature sensation	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0010829	HP:0010829	Impaired temperature sensation	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0010829	HP:0010829	Impaired temperature sensation	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0010829	HP:0010829	Impaired temperature sensation	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0010829	HP:0010829	Impaired temperature sensation	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0010829	HP:0010829	Impaired temperature sensation	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0010829	HP:0010829	Impaired temperature sensation	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0010829	HP:0010829	Impaired temperature sensation	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0010829	HP:0010829	Impaired temperature sensation	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0010829	HP:0010829	Impaired temperature sensation	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010829	HP:0010829	Impaired temperature sensation	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0010829	HP:0010829	Impaired temperature sensation	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0010829	HP:0010829	Impaired temperature sensation	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0010829	HP:0010829	Impaired temperature sensation	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0010829	HP:0010829	Impaired temperature sensation	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0010829	HP:0010829	Impaired temperature sensation	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0010829	HP:0010829	Impaired temperature sensation	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0010829	HP:0010829	Impaired temperature sensation	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0010829	HP:0010829	Impaired temperature sensation	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040282 - Frequent	98
HP:0010829	HP:0010829	Impaired temperature sensation	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome

Genes (32) :ABCA1 AEBP1 ATL1 ATL3 ATP1A2 CACNA1A HEXB HPGD HSPB1 JAG1 KRT1 KRT16 KRT9 LMX1B MAGEL2 MFN2 NDN NGF NTRK1 OCA2 PMP22 PRDM12 PRRT2 RNF170 SCN1A SIM1 SLCO2A1 SNRPN SPTLC1 SPTLC2 TGM1 ZFHX2

Diseases (24) :ORPHA:31150 OMIM:205400 ORPHA:536532 ORPHA:36386 ORPHA:569 OMIM:268800 ORPHA:2796 ORPHA:99940 OMIM:619574 ORPHA:2199 ORPHA:2614 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:99947 ORPHA:64752 ORPHA:642 ORPHA:90658 OMIM:616488 OMIM:619686 ORPHA:398079 ORPHA:100976 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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