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 humerus morphology (HP:0031095)

Grandparent Node:
Anomaly of the upper limb diaphyses (HP:0009808)

Parent Node:
Abnormal humeral diaphysis morphology (HP:0003926)

..Starting node
..Abnormal deltoid tuberosity morphology (HP:0003889)

Term ID:

3889

Name:

Abnormal deltoid tuberosity morphology

Synonym:

Abnormality of the deltoid tuberosities

Definition:

Comments:

Reference:

HP:0003889

Genes and Diseases:

Child Nodes:

........

Prominent deltoid tuberosities (HP:0003890)

Sister Nodes:

Cortical irregularity of humeral diaphysis (HP:0003927)

Cortical thickening of humeral diaphysis (HP:0003928)

Ground glass opacity of humeral diaphysis (HP:0003929)

Lytic defects of humeral diaphysis (HP:0003930)

Periosteal new bone of humeral diaphysis (HP:0003931)

Sclerosis of humeral diaphysis (HP:0003933)

Sclerotic foci of humeral diaphysis (HP:0003932)

Slender humeral diaphysis (HP:0003934)

Wide humeral diaphysis (HP:0003935)

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:0003889	HP:0003889	Abnormal deltoid tuberosity morphology	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003889	HP:0003890	Prominent deltoid tuberosities	1	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.