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
..Dissociated sensory loss (HP:0010835)

Term ID:

10835

Name:

Dissociated sensory loss

Synonym:

Definition:

A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.

Comments:

Reference:

HP:0010835

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of pain sensation (HP:0010832)

Distal sensory impairment (HP:0002936)

Impaired proprioception (HP:0010831)

Impaired tactile sensation (HP:0010830)

Impaired temperature sensation (HP:0010829)

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:0010835	HP:0010835	Dissociated sensory loss	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0010835	HP:0010835	Dissociated sensory loss	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0010835	HP:0010835	Dissociated sensory loss	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0010835	HP:0010835	Dissociated sensory loss	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053

Genes (4) :ATP1A2 CACNA1A PRRT2 SCN1A

Diseases (1) :ORPHA:569

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