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

..Starting node
..Median pseudocleft lip (HP:0034185)

Term ID:

34185

Name:

Median pseudocleft lip

Synonym:

Definition:

A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.

Comments:

Reference:

HP:0034185

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034185	HP:0034185	Median pseudocleft lip	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0034185	HP:0034185	Median pseudocleft lip	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS

Genes (2) :H4C3 WLS

Diseases (2) :OMIM:619758 OMIM:619648

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