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)

Parent Node:
obsolete Abnormality of the ulna (HP:0002997)

..Starting node
..Dorsal subluxation of ulna (HP:0006459)

Term ID:

6459

Name:

Dorsal subluxation of ulna

Synonym:

Definition:

Partial dislocation of the ulna in the dorsal direction.

Comments:

Reference:

HP:0006459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Abnormal olecranon morphology (HP:0004032)

Abnormal ulnar epiphysis morphology (HP:0004037)

Abnormal ulnar metaphysis morphology (HP:0004039)

Aplasia/Hypoplasia of the ulna (HP:0006495)

Exostoses of the ulna (HP:0003985)

Fractured ulna (HP:0003987)

Long ulna (HP:0003988)

Notched ulna (HP:0003989)

Osteosclerosis of the ulna (HP:0003991)

Pointed ulna (HP:0003990)

Posteriorly dislocated ulna (HP:0003984)

Radioulnar synostosis (HP:0002974)

Slender ulna (HP:0003992)

Ulnar bowing (HP:0003031)

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:0006459	HP:0006459	Dorsal subluxation of ulna	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0006459	HP:0006459	Dorsal subluxation of ulna	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66

Genes (1) :SHOX

Diseases (2) :ORPHA:240 OMIM:127300

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