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 long bone morphology (HP:0011314)

Parent Node:
Abnormal shape of the radius (HP:0045008)

Parent Node:
Slender forearm bones (HP:0003969)

Parent Node:
Slender long bone (HP:0003100)

..Starting node
..Slender radius (HP:0040062)

Term ID:

40062

Name:

Slender radius

Synonym:

Definition:

Comments:

Reference:

HP:0040062

Genes and Diseases:

Child Nodes:

Sister Nodes:

Slender humerus (HP:0003882)

Slender long bones with narrow diaphyses (HP:0004993)

Slender ulna (HP:0003992)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040062	HP:0040062	Slender radius	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.