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 nerve conduction velocity (HP:0040129)

Parent Node:
Abnormal motor nerve conduction velocity (HP:0040131)

Parent Node:
Decreased nerve conduction velocity (HP:0000762)

..Starting node
..Motor conduction block (HP:0012078)

Term ID:

12078

Name:

Motor conduction block

Synonym:

Definition:

Blockade of impulses at a focal site along the course of a motor axon.

Comments:

Reference:

HP:0012078

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased motor nerve conduction velocity (HP:0003431)

Decreased sensory nerve conduction velocity (HP:0003448)

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:0012078	HP:0012078	Motor conduction block	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0012078	HP:0012078	Motor conduction block	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11

Genes (2) :GDAP1 HK1

Diseases (2) :ORPHA:99948 ORPHA:99953

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