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
..Distal peripheral sensory neuropathy (HP:0007067)

Term ID:

7067

Name:

Distal peripheral sensory neuropathy

Synonym:

Peripheral sensory neuropathy, distal

Definition:

Peripheral sensory neuropathy affecting primarily distal sensation.

Comments:

Reference:

HP:0007067

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal sensory impairment of all modalities (HP:0003409)

Hyperesthesia (HP:0100963)

Paresthesia (HP:0003401)

Sensory ataxic neuropathy (HP:0003434)

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:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare	99
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare	60
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007067	HP:0007067	Distal peripheral sensory neuropathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional

Genes (20) :COX1 COX2 COX3 DKK1 GSN HADHA HADHB IBA57 ND1 ND4 ND5 ND6 SPG11 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (6) :ORPHA:550 ORPHA:268882 ORPHA:85448 ORPHA:746 ORPHA:468661 OMIM:604360

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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