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 mandible morphology (HP:0000277)

Parent Node:
Midline defect of mandible (HP:0010753)

..Starting node
..Cleft mandible (HP:0010752)

Term ID:

10752

Name:

Cleft mandible

Synonym:

Cleft lower jaw; Mandibular cleft

Definition:

Midline deficiency of the mandible and some or all overlying tissues.

Comments:

Reference:

HP:0010752

Genes and Diseases:

Child Nodes:

Sister Nodes:

Antegonial notching of mandible (HP:0003779)

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:0010752	HP:0010752	Cleft mandible	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4

Genes (1) :EIF4A3

Diseases (1) :OMIM:268305

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