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 upper limb metaphysis morphology (HP:0009809)

Grandparent Node:
Metaphyseal irregularity (HP:0003025)

Parent Node:
Abnormal radial metaphysis morphology (HP:0004015)

Parent Node:
Upper-limb metaphyseal irregularity (HP:0003850)

..Starting node
..Radial metaphyseal irregularity (HP:0004019)

Term ID:

4019

Name:

Radial metaphyseal irregularity

Synonym:

Irregular radial metaphysis

Definition:

Irregularity of the normally smooth surface of the metaphysis of the radius.

Comments:

Reference:

HP:0004019

Genes and Diseases:

Child Nodes:

Sister Nodes:

Humeral metaphyseal irregularity (HP:0003913)

Ulnar metaphyseal irregularity (HP:0004042)

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:0004019	HP:0004019	Radial metaphyseal irregularity	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0004019	HP:0004019	Radial metaphyseal irregularity	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89

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.