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
..Orbital cleft (HP:0031574)

Term ID:

31574

Name:

Orbital cleft

Synonym:

Definition:

A facial cleft characterized by involvement of the orbit.

Comments:

Reference:

HP:0031574

Genes and Diseases:

Child Nodes:

........

Tessier number 3 facial cleft (HP:0031575)

........

Tessier number 4 facial cleft (HP:0031576)

........

Tessier number 5 facial cleft (HP:0031577)

........

Tessier number 9 facial cleft (HP:0031581)

........

Tessier number 10 facial cleft (HP:0031582)

........

Tessier number 11 facial cleft (HP:0031583)

Sister Nodes:

Midline facial cleft (HP:0100629)

Paramedian facial cleft (HP:0031571)

Transverse facial cleft (HP:0100731)

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:0031574	HP:0031574	Orbital cleft	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	6
HP:0031574	HP:0031583	Tessier number 11 facial cleft	1	CL E G H
HP:0031574	HP:0031582	Tessier number 10 facial cleft	1	CL E G H
HP:0031574	HP:0031581	Tessier number 9 facial cleft	1	CL E G H
HP:0031574	HP:0031577	Tessier number 5 facial cleft	1	CL E G H
HP:0031574	HP:0031575	Tessier number 3 facial cleft	1	CL E G H
HP:0031574	HP:0031576	Tessier number 4 facial cleft	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	6

Genes (1) :SPECC1L

Diseases (1) :OMIM:600251

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