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:
Facial cleft (HP:0002006)

..Starting node
..Midline facial cleft (HP:0100629)

Term ID:

100629

Name:

Midline facial cleft

Synonym:

Midline facial cleft

Definition:

A congenital malformation with a cleft (gap or opening) in the midline of the face.

Comments:

Reference:

HP:0100629

Genes and Diseases:

Child Nodes:

........

Tessier number 0 facial cleft (HP:0031570)

........

Tessier number 14 facial cleft (HP:0031586)

........

Tessier number 30 facial cleft (HP:0031587)

Sister Nodes:

Orbital cleft (HP:0031574)

Paramedian facial cleft (HP:0031571)

Transverse facial cleft (HP:0100731)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100629	HP:0100629	Midline facial cleft	0	CL E G H
HP:0100629	HP:0031570	Tessier number 0 facial cleft	1	CL E G H
HP:0100629	HP:0031587	Tessier number 30 facial cleft	1	CL E G H
HP:0100629	HP:0031586	Tessier number 14 facial cleft	1	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.