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 neural tube morphology (HP:0410043)

Parent Node:
Neural tube defect (HP:0045005)

..Starting node
..Exencephaly (HP:0030769)

Term ID:

30769

Name:

Exencephaly

Synonym:

Definition:

A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.

Comments:

Reference:

HP:0030769

Genes and Diseases:

Child Nodes:

Sister Nodes:

Craniorachischisis (HP:0030770)

Spinal dysraphism (HP:0010301)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030769	HP:0030769	Exencephaly	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.