Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the elbow (HP:0009811)help
Grandparent Node:
expand
Synostosis involving bones of the upper limbs (HP:0100238)help
Parent Node:
expand
Abnormal morphology of the radius (HP:0002818)help
Parent Node:
expand
Abnormality of the humeroradial joint (HP:0100744)help
Parent Node:
expand
Abnormality of the humerus (HP:0003063)help
Parent Node:
expand
Synostosis involving the elbow (HP:0003938)help
..Starting node
..expand
Humeroradial synostosis (HP:0003041)help
Term ID: 3041
Name: Humeroradial synostosis
Synonym: Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus
Definition: An abnormal osseous union (fusion) between the radius and the humerus.
Comments:
Reference: HP:0003041
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHumeroulnar synostosis (HP:0003939) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003041HP:0003041Humeroradial synostosis0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0003041HP:0003041Humeroradial synostosis0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0003041HP:0003041Humeroradial synostosis0FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 375
HP:0003041HP:0003041Humeroradial synostosis0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0003041HP:0003041Humeroradial synostosis0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0003041HP:0003041Humeroradial synostosis0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0003041HP:0003041Humeroradial synostosis0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0003041HP:0003041Humeroradial synostosis0GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 2.52
HP:0003041HP:0003041Humeroradial synostosis0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0003041HP:0003041Humeroradial synostosis0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0003041HP:0003041Humeroradial synostosis0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0003041HP:0003041Humeroradial synostosis0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0003041HP:0003041Humeroradial synostosis0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0003041HP:0003041Humeroradial synostosis0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0003041HP:0003041Humeroradial synostosis0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13
HP:0003041HP:0003041Humeroradial synostosis0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13


Genes (11) :CYP26B1 DONSON FGF9 FGFR1 FGFR2 GDF5 NOG POR PTDSS1 TBX15 WNT7A

Diseases (14) :OMIM:614416 OMIM:251230 OMIM:612961 OMIM:101600 OMIM:207410 OMIM:101200 OMIM:610017 OMIM:186570 OMIM:201750 ORPHA:95699 OMIM:151050 ORPHA:93333 ORPHA:2879 OMIM:276820
 

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