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:
Somatic sensory dysfunction (HP:0003474)

Parent Node:
Distal sensory impairment (HP:0002936)

Parent Node:
Impaired proprioception (HP:0010831)

..Starting node
..Impaired distal proprioception (HP:0006858)

Term ID:

6858

Name:

Impaired distal proprioception

Synonym:

Distal sensory loss of proprioception

Definition:

A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.

Comments:

Reference:

HP:0006858

Genes and Diseases:

Child Nodes:

Sister Nodes:

Positive Romberg sign (HP:0002403)

Sensory ataxia (HP:0010871)

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:0006858	HP:0006858	Impaired distal proprioception	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0006858	HP:0006858	Impaired distal proprioception	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0006858	HP:0006858	Impaired distal proprioception	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0006858	HP:0006858	Impaired distal proprioception	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0006858	HP:0006858	Impaired distal proprioception	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0006858	HP:0006858	Impaired distal proprioception	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0006858	HP:0006858	Impaired distal proprioception	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0006858	HP:0006858	Impaired distal proprioception	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0006858	HP:0006858	Impaired distal proprioception	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0006858	HP:0006858	Impaired distal proprioception	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0006858	HP:0006858	Impaired distal proprioception	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0006858	HP:0006858	Impaired distal proprioception	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0006858	HP:0006858	Impaired distal proprioception	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0006858	HP:0006858	Impaired distal proprioception	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4

Genes (14) :BSCL2 CYP7B1 DARS2 GDAP1 KIF1A MORC2 MTTP POLG POLR3A POLR3B SPTLC1 TDP1 TWNK XRCC1

Diseases (17) :OMIM:270685 OMIM:270800 ORPHA:137898 ORPHA:101097 ORPHA:99948 OMIM:614213 OMIM:616688 ORPHA:14 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 ORPHA:447896 OMIM:619742 OMIM:162400 ORPHA:94124 OMIM:617633

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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