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 epiphysis morphology (HP:0005930)

Parent Node:
Abnormality of the humeral epiphysis (HP:0003891)

Parent Node:
Flattened epiphysis (HP:0003071)

..Starting node
..Flattened humeral epiphyses (HP:0003895)

Term ID:

3895

Name:

Flattened humeral epiphyses

Synonym:

Flattened end part of long bone in upper arm

Definition:

Comments:

Reference:

HP:0003895

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flattened femoral epiphysis (HP:0030289)

Flattened knee epiphyses (HP:0005715)

Flattened radial epiphyses (HP:0004002)

Flattened, squared-off epiphyses of tubular bones (HP:0006172)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003895	HP:0003895	Flattened humeral epiphyses	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional

Genes (1) :TONSL

Diseases (1) :ORPHA:93357

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