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:
Abnormality of the maxilla (HP:0000326)

Parent Node:
Abnormality of the premaxilla (HP:0010758)

..Starting node
..Prominence of the premaxilla (HP:0010759)

Term ID:

10759

Name:

Prominence of the premaxilla

Synonym:

Anterior position of the premaxilla; Anterior position of the primary palate bone; Premaxillary bone excess; Prominence of the intermaxillary bone; Prominence of the primary palate bone; Prominent premaxilla

Definition:

Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.

Comments:

Reference:

HP:0010759

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the premaxilla (HP:0010756)

Hyperplasia of the premaxilla (HP:0430029)

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:0010759	HP:0010759	Prominence of the premaxilla	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0010759	HP:0010759	Prominence of the premaxilla	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0010759	HP:0010759	Prominence of the premaxilla	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0010759	HP:0010759	Prominence of the premaxilla	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0010759	HP:0010759	Prominence of the premaxilla	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0010759	HP:0010759	Prominence of the premaxilla	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62

Genes (6) :COLEC11 EFEMP2 HRAS NFIX NRAS PEX19

Diseases (5) :OMIM:265050 OMIM:614437 OMIM:137550 OMIM:602535 OMIM:614886

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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