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 metaphysis morphology (HP:0000944)

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

Parent Node:
Metaphyseal cupping (HP:0003021)

..Starting node
..Cupped metaphyses of the upper limbs (HP:0003848)

Term ID:

3848

Name:

Cupped metaphyses of the upper limbs

Synonym:

Cupped wide portion of the upper limb bone

Definition:

Comments:

Reference:

HP:0003848

Genes and Diseases:

Child Nodes:

........

Cupped radial metaphyses (HP:0004016)

Sister Nodes:

Metaphyseal cupping of metacarpals (HP:0006028)

Metaphyseal cupping of proximal phalanges (HP:0006208)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003848	HP:0003848	Cupped metaphyses of the upper limbs	0	CL E G H
HP:0003848	HP:0004016	Cupped radial metaphyses	1	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.