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 morphology of the radius (HP:0002818)

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

Grandparent Node:
Synostosis involving bones of the upper limbs (HP:0100238)

Parent Node:
Radioulnar synostosis (HP:0002974)

..Starting node
..Proximal radio-ulnar synostosis (HP:0005037)

Term ID:

5037

Name:

Proximal radio-ulnar synostosis

Synonym:

Definition:

An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.

Comments:

Reference:

HP:0005037

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0005037	HP:0005037	Proximal radio-ulnar synostosis	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18

Genes (6) :B3GALT6 CHSY1 FGFR2 FGFR3 HOXA11 TWIST1

Diseases (4) :OMIM:609465 ORPHA:363417 ORPHA:794 OMIM:605432

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