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

..Starting node
..Submucous cleft hard palate (HP:0000176)

Term ID:

176

Name:

Submucous cleft hard palate

Synonym:

Partial thickness cleft hard palate; Submucosal cleft palate; Submucous clefting

Definition:

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.

Comments:

Reference:

HP:0000176

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:0000176	HP:0000176	Submucous cleft hard palate	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0000176	HP:0000176	Submucous cleft hard palate	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000176	HP:0000176	Submucous cleft hard palate	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000176	HP:0000176	Submucous cleft hard palate	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000176	HP:0000176	Submucous cleft hard palate	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0000176	HP:0000176	Submucous cleft hard palate	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0000176	HP:0000176	Submucous cleft hard palate	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0000176	HP:0000176	Submucous cleft hard palate	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0000176	HP:0000176	Submucous cleft hard palate	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000176	HP:0000176	Submucous cleft hard palate	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0000176	HP:0000176	Submucous cleft hard palate	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000176	HP:0000176	Submucous cleft hard palate	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000176	HP:0000176	Submucous cleft hard palate	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000176	HP:0000176	Submucous cleft hard palate	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000176	HP:0000176	Submucous cleft hard palate	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000176	HP:0000176	Submucous cleft hard palate	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000176	HP:0000176	Submucous cleft hard palate	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000176	HP:0000176	Submucous cleft hard palate	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare	143
HP:0000176	HP:0000176	Submucous cleft hard palate	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000176	HP:0000176	Submucous cleft hard palate	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0000176	HP:0000176	Submucous cleft hard palate	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000176	HP:0000176	Submucous cleft hard palate	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0000176	HP:0000176	Submucous cleft hard palate	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000176	HP:0000176	Submucous cleft hard palate	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000176	HP:0000176	Submucous cleft hard palate	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0000176	HP:0000176	Submucous cleft hard palate	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000176	HP:0000176	Submucous cleft hard palate	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0000176	HP:0000176	Submucous cleft hard palate	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000176	HP:0000176	Submucous cleft hard palate	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000176	HP:0000176	Submucous cleft hard palate	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000176	HP:0000176	Submucous cleft hard palate	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0000176	HP:0000176	Submucous cleft hard palate	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0000176	HP:0000176	Submucous cleft hard palate	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000176	HP:0000176	Submucous cleft hard palate	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000176	HP:0000176	Submucous cleft hard palate	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000176	HP:0000176	Submucous cleft hard palate	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000176	HP:0000176	Submucous cleft hard palate	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000176	HP:0000176	Submucous cleft hard palate	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000176	HP:0000176	Submucous cleft hard palate	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0000176	HP:0000176	Submucous cleft hard palate	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000176	HP:0000176	Submucous cleft hard palate	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000176	HP:0000176	Submucous cleft hard palate	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000176	HP:0000176	Submucous cleft hard palate	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040283 - Occasional	174
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000176	HP:0000176	Submucous cleft hard palate	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000176	HP:0000176	Submucous cleft hard palate	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000176	HP:0000176	Submucous cleft hard palate	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000176	HP:0000176	Submucous cleft hard palate	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0000176	HP:0000176	Submucous cleft hard palate	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000176	HP:0000176	Submucous cleft hard palate	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (72) :AMER1 AMMECR1 B3GALNT2 B4GAT1 BCOR BICRA BRAF CARS1 CDC45 CDC6 CDH11 CDT1 COL2A1 COL4A1 CRPPA CUL3 DAG1 DGCR2 DGCR6 DGCR8 DHCR24 ESS2 FKRP FKTN FOXP2 GDF11 GMNN HAAO HS2ST1 HYAL1 HYLS1 KAT5 KAT6B KIF7 KRAS LARGE1 LIG4 LMNA MAP2K1 MAP2K2 NSUN2 ORC1 ORC4 ORC6 PIEZO2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2R5D PRKAR1B PRR12 PTDSS1 RAD21 RNU4ATAC RPS23 RXYLT1 SET SIAH1 SIX3 SMAD4 SMCHD1 SON SOX6 SOX9 STAG2 TBX1 TCTN3 WBP11 ZEB2 ZMPSTE24

Diseases (48) :ORPHA:2780 OMIM:300990 ORPHA:899 OMIM:300166 ORPHA:2712 OMIM:619325 ORPHA:1340 OMIM:115150 OMIM:618891 ORPHA:2554 OMIM:613805 ORPHA:1299 OMIM:108300 OMIM:619239 OMIM:192430 ORPHA:35107 ORPHA:209908 OMIM:619122 OMIM:617660 OMIM:619194 OMIM:601492 ORPHA:2189 OMIM:619103 ORPHA:3047 ORPHA:235 ORPHA:1662 OMIM:114300 ORPHA:2461 ORPHA:457279 OMIM:619680 OMIM:619539 ORPHA:2658 OMIM:614701 ORPHA:2636 OMIM:617412 OMIM:618106 OMIM:619314 OMIM:157170 ORPHA:2588 ORPHA:2250 OMIM:617140 OMIM:618971 OMIM:114290 OMIM:301043 ORPHA:2753 OMIM:619227 OMIM:235730 OMIM:275210

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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