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)

Parent Node:
Abnormal peripheral myelination (HP:0003130)

Parent Node:
Delayed myelination (HP:0012448)

..Starting node
..Delayed peripheral myelination (HP:0011401)

Term ID:

11401

Name:

Delayed peripheral myelination

Synonym:

Definition:

Delayed myelination in the peripheral nervous system.

Comments:

Reference:

HP:0011401

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed CNS myelination (HP:0002188)

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:0011401	HP:0011401	Delayed peripheral myelination	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0011401	HP:0011401	Delayed peripheral myelination	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10

Genes (2) :ASXL1 HACE1

Diseases (2) :OMIM:605039 ORPHA:464282

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