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
..Amyelia (HP:0100566)

Term ID:

100566

Name:

Amyelia

Synonym:

Absent spinal cord

Definition:

Congenital absence of the spinal cord.

Comments:

Reference:

HP:0100566

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diastomatomyelia (HP:0100563)

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:0100566	HP:0100566	Amyelia	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.