Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 jaw morphology (HP:0030791)

Parent Node:
Abnormality of the maxilla (HP:0000326)

..Starting node
..Narrow maxilla (HP:0002010)

Term ID:

2010

Name:

Narrow maxilla

Synonym:

Decreased breadth of upper jaw bones; Decreased transverse dimension of maxilla; Decreased width of maxilla; Decreased width of upper jaw bones; Narrow upper jaw bones; Transverse hypoplasia of maxilla; Transverse maxillary deficiency; Transverse maxillary insufficiency

Definition:

Comments:

Reference:

HP:0002010

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of frontal process of maxilla (HP:3000044)

Abnormality of the premaxilla (HP:0010758)

Aplasia of the maxilla (HP:0010667)

Aplasia/Hypoplasia of the maxilla (HP:0009117)

Arteriovenous malformation of the maxilla (HP:0031257)

Asymmetry of the maxilla (HP:0010755)

Hyperplasia of the maxilla (HP:0430028)

Hypoplasia of the maxilla (HP:0000327)

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:0002010	HP:0002010	Narrow maxilla	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0002010	HP:0002010	Narrow maxilla	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660

Genes (2) :ABL1 COL5A1

Diseases (2) :OMIM:617602 OMIM:130000

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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