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 skull morphology (HP:0000929)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

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

Parent Node:
Aplasia/Hypoplasia involving bones of the skull (HP:0009116)

..Starting node
..Aplasia/Hypoplasia of the maxilla (HP:0009117)

Term ID:

9117

Name:

Aplasia/Hypoplasia of the maxilla

Synonym:

Underdevelopment of maxilla; Underdevelopment of upper jaw bones

Definition:

Absence or underdevelopment of the maxilla.

Comments:

Reference:

HP:0009117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia involving the sinuses (HP:0009120)

Aplasia/Hypoplasia of the mandible (HP:0009118)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009117	HP:0009117	Aplasia/Hypoplasia of the maxilla	0	CL E G H

Genes (0) :

Diseases (0) :

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