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:
Spinal dysraphism (HP:0010301)

Parent Node:
Spina bifida (HP:0002414)

..Starting node
..Cervical spina bifida (HP:0005857)

Term ID:

5857

Name:

Cervical spina bifida

Synonym:

Definition:

Comments:

Reference:

HP:0005857

Genes and Diseases:

Child Nodes:

Sister Nodes:

Meningocele (HP:0002435)

Spina bifida occulta (HP:0003298)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005857	HP:0005857	Cervical spina bifida	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040281 - Very frequent	2

Genes (1) :DACT1

Diseases (1) :ORPHA:63260

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