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:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormality of mouth shape (HP:0011338)

Parent Node:
Facial cleft (HP:0002006)

..Starting node
..Transverse facial cleft (HP:0100731)

Term ID:

100731

Name:

Transverse facial cleft

Synonym:

Lateral facial cleft

Definition:

A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.

Comments:

Reference:

HP:0100731

Genes and Diseases:

Child Nodes:

........

Tessier number 6 facial cleft (HP:0031578)

........

Tessier number 7 facial cleft (HP:0031579)

........

Tessier number 8 facial cleft (HP:0031580)

Sister Nodes:

Midline facial cleft (HP:0100629)

Orbital cleft (HP:0031574)

Paramedian facial cleft (HP:0031571)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100731	HP:0100731	Transverse facial cleft	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	2
HP:0100731	HP:0031579	Tessier number 7 facial cleft	1	CL E G H
HP:0100731	HP:0031578	Tessier number 6 facial cleft	1	CL E G H
HP:0100731	HP:0031580	Tessier number 8 facial cleft	1	CL E G H

Genes (1) :SF3B2

Diseases (1) :OMIM:164210

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