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

Human Phenotype Ontology

Grandparent Node:
Abnormal limb epiphysis morphology (HP:0006505)

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Grandparent Node:
Abnormality of the upper limb (HP:0002817)

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Parent Node:
Abnormality of the elbow (HP:0009811)

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

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..Starting node
..Abnormality of the epiphyses of the elbow (HP:0003946)

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Term ID:

3946

Name:

Abnormality of the epiphyses of the elbow

Synonym:

Abnormality of end part of the elbow bone

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Delayed elbow epiphyseal ossification (HP:0003947)

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Irregular epiphyses of the elbow (HP:0003948)

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Abnormality of the proximal radial epiphysis (HP:0010596)

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................... HP:0005093 Absent proximal radial epiphyses

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Abnormality of the distal humeral epiphysis (HP:0010599)

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Abnormality of the proximal ulnar epiphysis (HP:0010601)

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Sister Nodes:

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Abnormal hand epiphysis morphology (HP:0005924)

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Abnormal ulnar epiphysis morphology (HP:0004037)

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Abnormality of radial epiphyses (HP:0003999)

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Abnormality of the humeral epiphysis (HP:0003891)

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Delayed upper limb epiphyseal ossification (HP:0003840)

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Fragmented epiphyses of the upper limbs (HP:0003841)

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Irregular epiphyses of the upper limbs (HP:0003842)

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Round epiphyses of the upper limbs (HP:0003843)

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Small epiphyses of the upper limbs (HP:0003844)

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Wide epiphyseal plates of the upper limbs (HP:0003846)

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Wide epiphyses of the upper limbs (HP:0003904)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003946	HP:0003946	Abnormality of the epiphyses of the elbow	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional			110
HP:0003946	HP:0003946	Abnormality of the epiphyses of the elbow	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional			110
HP:0003946	HP:0003946	Abnormality of the epiphyses of the elbow	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional			137
HP:0003946	HP:0010599	Abnormality of the distal humeral epiphysis	1	CL E G H
HP:0003946	HP:0010596	Abnormality of the proximal radial epiphysis	1	CL E G H
HP:0003946	HP:0003948	Irregular epiphyses of the elbow	1	CL E G H
HP:0003946	HP:0003947	Delayed elbow epiphyseal ossification	1	CL E G H
HP:0003946	HP:0010601	Abnormal proximal ulnar epiphysis morphology	1	CL E G H
HP:0003946	HP:0005093	Absent proximal radial epiphyses	2	CL E G H

Genes (3) :COL9A1 COL9A2 COL9A3

Diseases (1) :ORPHA:166002

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

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