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 soft palate morphology (HP:0100736)

Grandparent Node:
obsolete Cleft secondary palate (HP:0410004)

Parent Node:
Cleft soft palate (HP:0000185)

..Starting node
..Submucous cleft soft palate (HP:0011819)

Term ID:

11819

Name:

Submucous cleft soft palate

Synonym:

Partial thickness cleft soft palate; Submucous cleft velum

Definition:

A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.

Comments:

Reference:

HP:0011819

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Cleft of uvula (HP:0410032)

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:0011819	HP:0011819	Submucous cleft soft palate	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional	12
HP:0011819	HP:0011819	Submucous cleft soft palate	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011819	HP:0011819	Submucous cleft soft palate	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0011819	HP:0011819	Submucous cleft soft palate	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0011819	HP:0011819	Submucous cleft soft palate	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011819	HP:0011819	Submucous cleft soft palate	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0011819	HP:0011819	Submucous cleft soft palate	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011819	HP:0011819	Submucous cleft soft palate	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0011819	HP:0011819	Submucous cleft soft palate	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0011819	HP:0011819	Submucous cleft soft palate	0	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional

Genes (10) :GRHL3 IPO8 KCNK9 NEK1 NONO POLR3A SON STAC3 TP63 UBB

Diseases (9) :ORPHA:99771 OMIM:619472 OMIM:612292 ORPHA:2751 OMIM:300967 ORPHA:3455 ORPHA:500150 ORPHA:168572 ORPHA:69085

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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