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 forearm bone morphology (HP:0040072)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Parent Node:
Abnormal bone structure (HP:0003330)

Parent Node:
Obsolete Abnormal forearm bone morphology (HP:0040073)

..Starting node
..Fractured forearm bones (HP:0003961)

Term ID:

3961

Name:

Fractured forearm bones

Synonym:

Broken forearm; Fracture of the forearm; Fractured forearm bones

Definition:

Bone fracture in the radius, ulna, or wrist.

Comments:

Reference:

HP:0003961

Genes and Diseases:

Child Nodes:

........

Fractured radius (HP:0003978)

........

Fractured ulna (HP:0003987)

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Angulated forearm bones (HP:0003954)

Bowed forearm bones (HP:0003956)

Broad forearm bones (HP:0003971)

Deformed forearm bones (HP:0003959)

Distal ulnar epiphyseal stippling (HP:0006370)

obsolete Abnormal morphology of the radius (HP:0045009)

Slender forearm bones (HP:0003969)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003961	HP:0003961	Fractured forearm bones	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	2
HP:0003961	HP:0003987	Fractured ulna	1	CL E G H
HP:0003961	HP:0003978	Fractured radius	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	2

Genes (1) :TAPT1

Diseases (1) :OMIM:616897

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