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
..Diastomatomyelia (HP:0100563)

Term ID:

100563

Name:

Diastomatomyelia

Synonym:

Definition:

Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.

Comments:

Reference:

HP:0100563

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyelia (HP:0100566)

Diplomyelia (HP:0100562)

Hydromyelia (HP:0100565)

Syringomyelia (HP:0003396)

Triplomyelia (HP:0100564)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100563	HP:0100563	Diastomatomyelia	0	CL E G H

Genes (0) :

Diseases (0) :

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

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