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 oral cavity morphology (HP:0000163)

Parent Node:
Abnormal palate morphology (HP:0000174)

..Starting node
..Prominent median palatal raphe (HP:0002708)

Term ID:

2708

Name:

Prominent median palatal raphe

Synonym:

Prominent central palatal ridge; Prominent central ridge on roof of the mouth; Prominent medial palatal suture

Definition:

Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.

Comments:

Reference:

HP:0002708

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hard palate morphology (HP:0100737)

Abnormal soft palate morphology (HP:0100736)

High palate (HP:0000218)

Narrow palate (HP:0000189)

Palatal edema (HP:0031089)

Palate fistula (HP:0010294)

Palate telangiectasia (HP:0002707)

Prominent palatine ridges (HP:0010291)

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:0002708	HP:0002708	Prominent median palatal raphe	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0002708	HP:0002708	Prominent median palatal raphe	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional	22

Genes (2) :SHH TBL1XR1

Diseases (2) :OMIM:147250 OMIM:602342

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.