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
..Deformed forearm bones (HP:0003959)

Term ID:

3959

Name:

Deformed forearm bones

Synonym:

Deformed forearm bones

Definition:

Comments:

Reference:

HP:0003959

Genes and Diseases:

Child Nodes:

........

Deformed radius (HP:0003977)

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Angulated forearm bones (HP:0003954)

Bowed forearm bones (HP:0003956)

Broad forearm bones (HP:0003971)

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:0003959	HP:0003959	Deformed forearm bones	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent	96
HP:0003959	HP:0003959	Deformed forearm bones	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent	102
HP:0003959	HP:0003959	Deformed forearm bones	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003959	HP:0003977	Deformed radius	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0003959	HP:0003977	Deformed radius	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0003959	HP:0003977	Deformed radius	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100

Genes (3) :EXT1 EXT2 TBX3

Diseases (2) :ORPHA:321 OMIM:181450

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