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:
Cleft palate (HP:0000175)

Parent Node:
Non-midline cleft palate (HP:0100338)

..Starting node
..Unilateral cleft palate (HP:0100334)

Term ID:

100334

Name:

Unilateral cleft palate

Synonym:

One sided cleft palate; Unilateral palatoschisis

Definition:

Comments:

Reference:

HP:0100334

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral cleft palate (HP:0100337)

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:0100334	HP:0100334	Unilateral cleft palate	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0100334	HP:0100334	Unilateral cleft palate	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0100334	HP:0100334	Unilateral cleft palate	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0100334	HP:0100334	Unilateral cleft palate	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1003
HP:0100334	HP:0100334	Unilateral cleft palate	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100334	HP:0100334	Unilateral cleft palate	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0100334	HP:0100334	Unilateral cleft palate	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1
HP:0100334	HP:0100334	Unilateral cleft palate	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100334	HP:0100334	Unilateral cleft palate	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	99
HP:0100334	HP:0100334	Unilateral cleft palate	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100334	HP:0100334	Unilateral cleft palate	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100334	HP:0100334	Unilateral cleft palate	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	12
HP:0100334	HP:0100334	Unilateral cleft palate	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	4
HP:0100334	HP:0100334	Unilateral cleft palate	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	337
HP:0100334	HP:0100334	Unilateral cleft palate	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0100334	HP:0100334	Unilateral cleft palate	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	140

Genes (16) :ARHGAP29 ASXL1 BMP4 CDH1 CDH11 DLG1 DLX4 GDF11 IRF6 KAT5 MED12 MSX1 NECTIN1 PDGFRA SUMO1 TP63

Diseases (7) :ORPHA:199306 OMIM:605039 ORPHA:1299 OMIM:619122 OMIM:619103 OMIM:301068 OMIM:613705

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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