Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Cleft upper lip (HP:0000204)

Parent Node:
Non-midline cleft lip (HP:0100335)

..Starting node
..Unilateral cleft lip (HP:0100333)

Term ID:

100333

Name:

Unilateral cleft lip

Synonym:

One sided cleft upper lip; Unilateral cheiloschisis; Unilateral cleft upper lip

Definition:

A non-midline cleft of the upper lip on one side only.

Comments:

Reference:

HP:0100333

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral cleft lip (HP:0100336)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100333	HP:0100333	Unilateral cleft lip	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100333	HP:0100333	Unilateral cleft lip	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0100333	HP:0100333	Unilateral cleft lip	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100333	HP:0100333	Unilateral cleft lip	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0100333	HP:0100333	Unilateral cleft lip	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100333	HP:0100333	Unilateral cleft lip	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100333	HP:0100333	Unilateral cleft lip	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0100333	HP:0100333	Unilateral cleft lip	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0100333	HP:0100333	Unilateral cleft lip	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2

Genes (9) :GDF11 HYLS1 KAT5 KIF7 MED12 MID1 SMAD4 SUMO1 TAPT1

Diseases (8) :OMIM:619122 ORPHA:2189 OMIM:619103 OMIM:301068 OMIM:300000 ORPHA:2588 OMIM:613705 OMIM:616897

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

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