Human Phenotype Ontology

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 humeral diaphysis morphology (HP:0003926)

Parent Node:
Abnormal deltoid tuberosity morphology (HP:0003889)

..Starting node
..Prominent deltoid tuberosities (HP:0003890)

Term ID:

3890

Name:

Prominent deltoid tuberosities

Synonym:

Definition:

Comments:

Reference:

HP:0003890

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003890	HP:0003890	Prominent deltoid tuberosities	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4

Genes (1) :PRKG2

Diseases (1) :OMIM:619636

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