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

..Starting node
..Aplastic zygomatic arch (HP:0034260)

Term ID:

34260

Name:

Aplastic zygomatic arch

Synonym:

Definition:

Developmental defect characterized by the absence of the zygomatic arch.

Comments:

Reference:

HP:0034260

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034260	HP:0034260	Aplastic zygomatic arch	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	8
HP:0034260	HP:0034260	Aplastic zygomatic arch	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	7

Genes (2) :POLR1A TWIST2

Diseases (2) :OMIM:616462 OMIM:200110

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