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:
Obsolete Abnormal forearm bone morphology (HP:0040073)

..Starting node
..Broad forearm bones (HP:0003971)

Term ID:

3971

Name:

Broad forearm bones

Synonym:

Broad forearm bones; Wide forearm bones

Definition:

Abnormally wide bone of the skeleton of forearm.

Comments:

Reference:

HP:0003971

Genes and Diseases:

Child Nodes:

........

Broad radius (HP:0003981)

................... HP:0004026 Broad radial metaphysis

........

Broad ulna (HP:0003993)

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Angulated forearm bones (HP:0003954)

Bowed forearm bones (HP:0003956)

Deformed forearm bones (HP:0003959)

Distal ulnar epiphyseal stippling (HP:0006370)

Fractured forearm bones (HP:0003961)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003971	HP:0003971	Broad forearm bones	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0003971	HP:0003981	Broad radius	1	CL E G H
HP:0003971	HP:0003993	Broad ulna	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0003971	HP:0004026	Broad radial metaphysis	2	CL E G H

Genes (1) :SHOX

Diseases (1) :OMIM:249700

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