Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 form of the vertebral bodies (HP:0003312)

Parent Node:
Vertebral clefting (HP:0008428)

..Starting node
..Anterior clefting of vertebral bodies (HP:0009761)

Term ID:

9761

Name:

Anterior clefting of vertebral bodies

Synonym:

Definition:

Anterior schisis (cleft or cleavage) of vertebral bodies.

Comments:

Reference:

HP:0009761

Genes and Diseases:

Child Nodes:

Sister Nodes:

Butterfly vertebrae (HP:0003316)

Coronal cleft vertebrae (HP:0003417)

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:0009761	HP:0009761	Anterior clefting of vertebral bodies	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68

Genes (1) :CHRNG

Diseases (1) :OMIM:265000

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