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:
Non-midline cleft palate (HP:0100338)

Parent Node:
Bilateral cleft lip (HP:0100336)

Parent Node:
Bilateral cleft palate (HP:0100337)

..Starting node
..Bilateral cleft lip and palate (HP:0002744)

Term ID:

2744

Name:

Bilateral cleft lip and palate

Synonym:

Bilateral cleft lip and cleft palate; Right and left cleft lip and palate

Definition:

Cleft lip and cleft palate affecting both sides of the face.

Comments:

Reference:

HP:0002744

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002744	HP:0002744	Bilateral cleft lip and palate	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0002744	HP:0002744	Bilateral cleft lip and palate	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2

Genes (10) :CDH1 CHUK CTNND1 GLI2 MED12 NECTIN1 PTCH1 SIX3 SPOP YAP1

Diseases (9) :ORPHA:1997 OMIM:619339 OMIM:610829 OMIM:301068 ORPHA:3253 OMIM:610828 OMIM:157170 OMIM:618829 ORPHA:1473

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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