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 morphology of the radius (HP:0002818)

Grandparent Node:
Abnormality of upper limb epiphysis morphology (HP:0003839)

Parent Node:
Abnormality of radial epiphyses (HP:0003999)

..Starting node
..Abnormality of the distal radial epiphysis (HP:0010597)

Term ID:

10597

Name:

Abnormality of the distal radial epiphysis

Synonym:

Definition:

Any abnormality of the distal epiphysis of the radius.

Comments:

Reference:

HP:0010597

Genes and Diseases:

Child Nodes:

........

Flattened proximal radial epiphyses (HP:0005004)

........

Dysplastic distal radial epiphyses (HP:0005013)

........

Hypoplastic distal radial epiphyses (HP:0006386)

........

Distal radial epiphyseal osteolysis (HP:0006449)

Sister Nodes:

Abnormality of the proximal radial epiphysis (HP:0010596)

Broad radial epiphyseal plate (HP:0004014)

Cone-shaped distal radial epiphysis (HP:0004000)

Constricted radial neck (HP:0003998)

Flattened radial epiphyses (HP:0004002)

Irregular radial epiphyses (HP:0004004)

Large radial epiphyses (HP:0004005)

Medially deficient radial epiphyses (HP:0004001)

Premature fusion of the radial epiphyseal plates (HP:0004012)

Round radial epiphyses (HP:0004006)

Sclerotic radial epiphyses (HP:0004007)

Sloping radial epiphyses (HP:0004008)

Small radial epiphyses (HP:0004010)

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:0010597	HP:0010597	Abnormality of the distal radial epiphysis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0010597	HP:0006449	Distal radial epiphyseal osteolysis	1	CL E G H
HP:0010597	HP:0005013	Dysplastic distal radial epiphyses	1	CL E G H
HP:0010597	HP:0005004	Flattened proximal radial epiphyses	1	CL E G H
HP:0010597	HP:0041196	Fractured distal epiphysis of radius	1	CL E G H
HP:0010597	HP:0006386	Hypoplastic distal radial epiphyses	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28

Genes (1) :IFIH1

Diseases (1) :OMIM:182250

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