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 humerus morphology (HP:0031095)

Parent Node:
Abnormal humeral head morphology (HP:0003887)

..Starting node
..Flattened humeral heads (HP:0003888)

Term ID:

3888

Name:

Flattened humeral heads

Synonym:

Flattended head of long bone in upper arm

Definition:

Comments:

Reference:

HP:0003888

Genes and Diseases:

Child Nodes:

Sister Nodes:

Varus deformity of humeral neck (HP:0006362)

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:0003888	HP:0003888	Flattened humeral heads	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284

Genes (1) :COL2A1

Diseases (1) :ORPHA:166011

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