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:
Sensory neuropathy (HP:0000763)

..Starting node
..Sensory ataxic neuropathy (HP:0003434)

Term ID:

3434

Name:

Sensory ataxic neuropathy

Synonym:

Definition:

Comments:

Reference:

HP:0003434

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal peripheral sensory neuropathy (HP:0007067)

Distal sensory impairment of all modalities (HP:0003409)

Hyperesthesia (HP:0100963)

Paresthesia (HP:0003401)

Sensory axonal neuropathy (HP:0003390)

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:0003434	HP:0003434	Sensory ataxic neuropathy	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003434	HP:0003434	Sensory ataxic neuropathy	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113

Genes (3) :DHH POLG TWNK

Diseases (5) :ORPHA:168563 OMIM:613662 OMIM:258450 OMIM:607459 ORPHA:70595

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