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 hard palate morphology (HP:0100737)

Grandparent Node:
Oral cleft (HP:0000202)

Parent Node:
Cleft palate (HP:0000175)

..Starting node
..Non-midline cleft palate (HP:0100338)

Term ID:

100338

Name:

Non-midline cleft palate

Synonym:

Paramedian cleft palate

Definition:

Comments:

Reference:

HP:0100338

Genes and Diseases:

Child Nodes:

........

Unilateral cleft palate (HP:0100334)

........

Bilateral cleft palate (HP:0100337)

................... HP:0002744 Bilateral cleft lip and palate

Sister Nodes:

Cleft maxillary alveolus (HP:0410003)

Median cleft palate (HP:0009099)

obsolete Cleft secondary palate (HP:0410004)

Submucous cleft of soft and hard palate (HP:0410031)

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:0100338	HP:0100338	Non-midline cleft palate	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate		6
HP:0100338	HP:0100338	Non-midline cleft palate	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0100338	HP:0100338	Non-midline cleft palate	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate		38
HP:0100338	HP:0100338	Non-midline cleft palate	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100338	HP:0100338	Non-midline cleft palate	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate		1003
HP:0100338	HP:0100338	Non-midline cleft palate	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100338	HP:0100338	Non-midline cleft palate	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100338	HP:0100338	Non-midline cleft palate	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100338	HP:0100338	Non-midline cleft palate	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0100338	HP:0100338	Non-midline cleft palate	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate		1
HP:0100338	HP:0100338	Non-midline cleft palate	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100338	HP:0100338	Non-midline cleft palate	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100338	HP:0100338	Non-midline cleft palate	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100338	HP:0100338	Non-midline cleft palate	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate		99
HP:0100338	HP:0100338	Non-midline 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:0100338	HP:0100338	Non-midline cleft palate	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100338	HP:0100338	Non-midline cleft palate	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate		12
HP:0100338	HP:0100338	Non-midline cleft palate	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate		4
HP:0100338	HP:0100338	Non-midline cleft palate	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100338	HP:0100338	Non-midline cleft palate	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate		337
HP:0100338	HP:0100338	Non-midline cleft palate	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100338	HP:0100338	Non-midline cleft palate	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100338	HP:0100338	Non-midline cleft palate	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100338	HP:0100338	Non-midline cleft palate	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100338	HP:0100338	Non-midline cleft palate	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10		8
HP:0100338	HP:0100338	Non-midline cleft palate	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate		140
HP:0100338	HP:0100338	Non-midline cleft palate	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0100338	HP:0100334	Unilateral cleft palate	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0100338	HP:0100337	Bilateral cleft palate	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0100338	HP:0100334	Unilateral cleft palate	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0100338	HP:0100337	Bilateral cleft palate	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0100338	HP:0100337	Bilateral cleft palate	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0100338	HP:0100334	Unilateral cleft palate	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0100338	HP:0100337	Bilateral cleft palate	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100338	HP:0100334	Unilateral cleft palate	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1003
HP:0100338	HP:0100337	Bilateral cleft palate	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1003
HP:0100338	HP:0100334	Unilateral cleft palate	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100338	HP:0100337	Bilateral cleft palate	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100338	HP:0100337	Bilateral cleft palate	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100338	HP:0100334	Unilateral cleft palate	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0100338	HP:0100337	Bilateral cleft palate	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0100338	HP:0100334	Unilateral cleft palate	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1
HP:0100338	HP:0100337	Bilateral cleft palate	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1
HP:0100338	HP:0100337	Bilateral cleft palate	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100338	HP:0100334	Unilateral cleft palate	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100338	HP:0100337	Bilateral cleft palate	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100338	HP:0100337	Bilateral cleft palate	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	99
HP:0100338	HP:0100334	Unilateral cleft palate	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	99
HP:0100338	HP:0100334	Unilateral cleft palate	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100338	HP:0100334	Unilateral cleft palate	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100338	HP:0100337	Bilateral cleft palate	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100338	HP:0100334	Unilateral cleft palate	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	12
HP:0100338	HP:0100337	Bilateral cleft palate	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	12
HP:0100338	HP:0100334	Unilateral cleft palate	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	4
HP:0100338	HP:0100337	Bilateral cleft palate	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	4
HP:0100338	HP:0100337	Bilateral cleft palate	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100338	HP:0100337	Bilateral cleft palate	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	337
HP:0100338	HP:0100334	Unilateral cleft palate	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	337
HP:0100338	HP:0100337	Bilateral cleft palate	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100338	HP:0100337	Bilateral cleft palate	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100338	HP:0100337	Bilateral cleft palate	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0100338	HP:0100337	Bilateral cleft palate	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100338	HP:0100334	Unilateral cleft palate	1	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0100338	HP:0100337	Bilateral cleft palate	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	140
HP:0100338	HP:0100334	Unilateral cleft palate	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	140
HP:0100338	HP:0100337	Bilateral cleft palate	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100338	HP:0002744	Bilateral cleft lip and palate	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2

Genes (24) :ARHGAP29 ASXL1 BMP4 CDH1 CDH11 CHUK CTNND1 DLG1 DLX4 GDF11 GLI2 IRF6 KAT5 MED12 MSX1 NECTIN1 PDGFRA PTCH1 SIX3 SLC26A2 SPOP SUMO1 TP63 YAP1

Diseases (17) :ORPHA:199306 OMIM:605039 ORPHA:1997 ORPHA:1299 OMIM:619339 OMIM:616788 OMIM:619122 OMIM:610829 OMIM:619103 OMIM:301068 ORPHA:3253 OMIM:610828 OMIM:157170 ORPHA:56304 OMIM:618829 OMIM:613705 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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