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
..Acute demyelinating polyneuropathy (HP:0007131)

Term ID:

7131

Name:

Acute demyelinating polyneuropathy

Synonym:

Definition:

Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.

Comments:

Reference:

HP:0007131

Genes and Diseases:

Child Nodes:

Sister Nodes:

Demyelinating motor neuropathy (HP:0007220)

Demyelinating sensory neuropathy (HP:0011402)

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:0007131	HP:0007131	Acute demyelinating polyneuropathy	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0007131	HP:0007131	Acute demyelinating polyneuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040280 - Obligate	79
HP:0007131	HP:0007131	Acute demyelinating polyneuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0007131	HP:0007131	Acute demyelinating polyneuropathy	0	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS		79
HP:0007131	HP:0007131	Acute demyelinating polyneuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79

Genes (2) :MPZ PMP22

Diseases (4) :ORPHA:3115 ORPHA:98916 ORPHA:101081 OMIM:139393

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