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:
Spina bifida (HP:0002414)

Parent Node:
Spina bifida occulta (HP:0003298)

..Starting node
..Spina bifida occulta at S1 (HP:0004614)

Term ID:

4614

Name:

Spina bifida occulta at S1

Synonym:

Definition:

The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.

Comments:

Reference:

HP:0004614

Genes and Diseases:

Child Nodes:

Sister Nodes:

Spina bifida occulta at L5 (HP:0004601)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004614	HP:0004614	Spina bifida occulta at S1	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.