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 peripheral nervous system morphology (HP:0000759)

Parent Node:
Peripheral neuropathy (HP:0009830)

..Starting node
..Acute episodes of neuropathic symptoms (HP:0003489)

Term ID:

3489

Name:

Acute episodes of neuropathic symptoms

Synonym:

Definition:

Comments:

Reference:

HP:0003489

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic sensorineural polyneuropathy (HP:0001301)

Congenital peripheral neuropathy (HP:0006903)

Demyelinating peripheral neuropathy (HP:0007108)

Entrapment neuropathy (HP:0012181)

Episodic peripheral neuropathy (HP:0006949)

Mixed demyelinating and axonal polyneuropathy (HP:0007327)

Mononeuropathy (HP:0009831)

Motor polyneuropathy (HP:0007178)

Peripheral axonal neuropathy (HP:0003477)

Polyneuropathy (HP:0001271)

Progressive peripheral neuropathy (HP:0007133)

Sensorimotor neuropathy (HP:0007141)

Sensorimotor polyneuropathy affecting arms more than legs (HP:0006865)

Sensory neuropathy (HP:0000763)

Somatic sensory dysfunction (HP:0003474)

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:0003489	HP:0003489	Acute episodes of neuropathic symptoms	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0003489	HP:0003489	Acute episodes of neuropathic symptoms	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0003489	HP:0003489	Acute episodes of neuropathic symptoms	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0003489	HP:0003489	Acute episodes of neuropathic symptoms	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	173

Genes (4) :CPOX HMBS KRT14 KRT5

Diseases (3) :OMIM:121300 OMIM:176000 ORPHA:79400

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