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 upper lip morphology (HP:0000177)

Grandparent Node:
Cleft lip (HP:0410030)

Parent Node:
Cleft upper lip (HP:0000204)

..Starting node
..Submucous cleft lip (HP:0009101)

Term ID:

9101

Name:

Submucous cleft lip

Synonym:

Submucous labial cleft

Definition:

A cleft of the lip with overlying mucous membrane.

Comments:

Reference:

HP:0009101

Genes and Diseases:

Child Nodes:

Sister Nodes:

Incomplete cleft of the upper lip (HP:0011340)

Median cleft lip (HP:0000161)

Non-midline cleft lip (HP:0100335)

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:0009101	HP:0009101	Submucous cleft lip	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	73
HP:0009101	HP:0009101	Submucous cleft lip	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1

Genes (2) :GPC3 GPC4

Diseases (1) :OMIM:312870

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