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 humeral metaphysis morphology (HP:0003907)

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

Parent Node:
Abnormal elbow metaphysis morphology (HP:0003949)

Parent Node:
Humeral metaphyseal irregularity (HP:0003913)

..Starting node
..Distal humeral metaphyseal irregularity (HP:0003951)

Term ID:

3951

Name:

Distal humeral metaphyseal irregularity

Synonym:

Irregular metaphyses of elbow; Irregular wide portion of elbow bone

Definition:

Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).

Comments:

Reference:

HP:0003951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Proximal humeral metaphyseal irregularity (HP:0005043)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003951	HP:0003951	Distal humeral metaphyseal irregularity	0	CL E G H

Genes (0) :

Diseases (0) :

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