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:
Abnormal myelination (HP:0012447)

Grandparent Node:
Peripheral neuropathy (HP:0009830)

Parent Node:
Demyelinating peripheral neuropathy (HP:0007108)

..Starting node
..Demyelinating sensory neuropathy (HP:0011402)

Term ID:

11402

Name:

Demyelinating sensory neuropathy

Synonym:

Definition:

Demyelination of peripheral sensory nerves.

Comments:

Reference:

HP:0011402

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute demyelinating polyneuropathy (HP:0007131)

Demyelinating motor neuropathy (HP:0007220)

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:0011402	HP:0011402	Demyelinating sensory neuropathy	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent	118
HP:0011402	HP:0011402	Demyelinating sensory neuropathy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent	118

Genes (1) :NEFL

Diseases (2) :ORPHA:99939 ORPHA:101085

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