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:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Spinal cord lesion (HP:0100561)

..Starting node
..Hydromyelia (HP:0100565)

Term ID:

100565

Name:

Hydromyelia

Synonym:

Definition:

Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.

Comments:

Reference:

HP:0100565

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyelia (HP:0100566)

Diastomatomyelia (HP:0100563)

Diplomyelia (HP:0100562)

Syringomyelia (HP:0003396)

Triplomyelia (HP:0100564)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100565	HP:0100565	Hydromyelia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	17
HP:0100565	HP:0100565	Hydromyelia	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	111

Genes (2) :B4GAT1 VANGL1

Diseases (2) :OMIM:615287 OMIM:600145

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