Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 metaphysis morphology (HP:0000944)

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

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Parent Node:
Abnormal morphology of the radius (HP:0002818)

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Parent Node:
Abnormal upper limb metaphysis morphology (HP:0009809)

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..Starting node
..Abnormal radial metaphysis morphology (HP:0004015)

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Term ID:

4015

Name:

Abnormal radial metaphysis morphology

Synonym:

Abnormality of radial metaphyses

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Cupped radial metaphyses (HP:0004016)

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Exostoses of the radial metaphysis (HP:0004017)

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Flared radial metaphysis (HP:0004018)

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Radial metaphyseal irregularity (HP:0004019)

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Irregular ossification of the radial metaphysis (HP:0004020)

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Lytic defects of radial metaphysis (HP:0004021)

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Sclerotic radial metaphysis with longitudinal striations (HP:0004022)

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Sloping radial metaphysis (HP:0004023)

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................... HP:0004024 Medially sloping radial metaphysis

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Spurred radial metaphysis (HP:0004025)

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Broad radial metaphysis (HP:0004026)

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Sister Nodes:

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Abnormal elbow metaphysis morphology (HP:0003949)

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Abnormal hand metaphysis morphology (HP:0005923)

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Abnormal humeral metaphysis morphology (HP:0003907)

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Abnormal ulnar metaphysis morphology (HP:0004039)

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Cupped metaphyses of the upper limbs (HP:0003848)

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Lytic defects in metaphyses of the upper limbs (HP:0003851)

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Normal density transverse bands in metaphyses of the upper limbs (HP:0003852)

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Sclerosis of metaphyses of the upper limbs (HP:0003854)

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Spurred metaphyses of the upper limbs (HP:0003855)

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Upper limb metaphyseal widening (HP:0003856)

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Upper-limb metaphyseal irregularity (HP:0003850)

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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:0004015	HP:0004015	Abnormal radial metaphysis morphology	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type				79
HP:0004015	HP:0004015	Abnormal radial metaphysis morphology	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia				89
HP:0004015	HP:0004020	Irregular ossification of the radial metaphysis	1	CL E G H
HP:0004015	HP:0004026	Broad radial metaphysis	1	CL E G H
HP:0004015	HP:0004018	Flared radial metaphysis	1	CL E G H
HP:0004015	HP:0004025	Spurred radial metaphysis	1	CL E G H
HP:0004015	HP:0004017	Exostoses of the radial metaphysis	1	CL E G H
HP:0004015	HP:0004016	Cupped radial metaphyses	1	CL E G H
HP:0004015	HP:0004023	Sloping radial metaphysis	1	CL E G H
HP:0004015	HP:0004022	Sclerotic radial metaphysis with longitudinal striations	1	CL E G H
HP:0004015	HP:0004021	Lytic defects of radial metaphysis	1	CL E G H
HP:0004015	HP:0004019	Radial metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional			79
HP:0004015	HP:0004019	Radial metaphyseal irregularity	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia				89
HP:0004015	HP:0004024	Medially sloping radial metaphysis	2	CL E G H

Genes (2) :COL10A1 COMP

Diseases (2) :ORPHA:174 OMIM:177170

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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