Human Phenotype Ontology

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

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

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormal hand metaphysis morphology (HP:0005923)

..Starting node
..Cupped metaphyses of hand bones (HP:0004273)

Term ID:

4273

Name:

Cupped metaphyses of hand bones

Synonym:

Cupped metaphysis of hand bones; Cupped wide portion of hand bones

Definition:

Comments:

Reference:

HP:0004273

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004273	HP:0004273	Cupped metaphyses of hand bones	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.