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 pain sensation (HP:0010832)

Parent Node:
Impaired pain sensation (HP:0007328)

..Starting node
..Pain insensitivity (HP:0007021)

Term ID:

7021

Name:

Pain insensitivity

Synonym:

Absence of pain sensation

Definition:

Inability to perceive painful stimuli.

Comments:

Reference:

HP:0007021

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007021	HP:0007021	Pain insensitivity	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0007021	HP:0007021	Pain insensitivity	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0007021	HP:0007021	Pain insensitivity	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0007021	HP:0007021	Pain insensitivity	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0007021	HP:0007021	Pain insensitivity	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0007021	HP:0007021	Pain insensitivity	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0007021	HP:0007021	Pain insensitivity	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0007021	HP:0007021	Pain insensitivity	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0007021	HP:0007021	Pain insensitivity	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0007021	HP:0007021	Pain insensitivity	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0007021	HP:0007021	Pain insensitivity	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0007021	HP:0007021	Pain insensitivity	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0007021	HP:0007021	Pain insensitivity	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0007021	HP:0007021	Pain insensitivity	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0007021	HP:0007021	Pain insensitivity	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0007021	HP:0007021	Pain insensitivity	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0007021	HP:0007021	Pain insensitivity	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0007021	HP:0007021	Pain insensitivity	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0007021	HP:0007021	Pain insensitivity	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0007021	HP:0007021	Pain insensitivity	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0007021	HP:0007021	Pain insensitivity	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0007021	HP:0007021	Pain insensitivity	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0007021	HP:0007021	Pain insensitivity	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0007021	HP:0007021	Pain insensitivity	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0007021	HP:0007021	Pain insensitivity	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0007021	HP:0007021	Pain insensitivity	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0007021	HP:0007021	Pain insensitivity	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0007021	HP:0007021	Pain insensitivity	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome

Genes (24) :ATL1 ATL3 CLTCL1 DDHD1 DNM1L EBF3 GRIA3 HDAC4 IARS2 KDM5C MECP2 MPV17 NGF NGLY1 NTRK1 PRDM12 SCN11A SCN9A SPTLC1 SPTLC2 TDP1 TMEM218 TRIO ZFHX2

Diseases (24) :ORPHA:36386 ORPHA:453510 ORPHA:101008 OMIM:614388 OMIM:617330 ORPHA:364028 OMIM:600430 OMIM:616007 OMIM:300534 OMIM:300260 OMIM:256810 ORPHA:64752 OMIM:608654 OMIM:615273 ORPHA:642 OMIM:256800 OMIM:616488 OMIM:615548 OMIM:243000 ORPHA:94124 OMIM:619562 OMIM:618825 OMIM:617061 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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