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 radial epiphyses (HP:0003999)

Parent Node:
Flattened epiphysis (HP:0003071)

..Starting node
..Flattened radial epiphyses (HP:0004002)

Term ID:

4002

Name:

Flattened radial epiphyses

Synonym:

Definition:

Comments:

Reference:

HP:0004002

Genes and Diseases:

Child Nodes:

........

Medially flattened radial epiphyses (HP:0004003)

........

Flattened proximal radial epiphyses (HP:0005004)

Sister Nodes:

Flattened femoral epiphysis (HP:0030289)

Flattened humeral epiphyses (HP:0003895)

Flattened knee epiphyses (HP:0005715)

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

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:0004002	HP:0004002	Flattened radial epiphyses	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0004002	HP:0005004	Flattened proximal radial epiphyses	1	CL E G H
HP:0004002	HP:0004003	Medially flattened radial epiphyses	1	CL E G H

Genes (1) :SLC26A2

Diseases (1) :ORPHA:93307

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