Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandMuscle Hypotonia (D009123)
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)

       Child Nodes:



 Sister Nodes: 
..expandAntley-Bixler Syndrome Phenotype (D054882) Child2
..expandBanki Syndrome (C566228)
..expandCoronal synostosis, syndactyly and jejunal atresia (C536445)
..expandCraniosynostoses (D003398) Child64
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandHumeroradial Multiple Synostosis Syndrome (C565509)
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandJorgenson Lenz syndrome (C536292)
..expandMesomelia-synostoses syndrome (C537348)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMultiple synostoses syndrome 2 (C537380)
..expandMultiple Synostoses Syndrome 3 (C567839)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandPatella aplasia, coxa vara, tarsal synostosis (C536307)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRadioulnar Synostosis (C562408)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandRadioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRamer Ladda syndrome (C535284)
..expandSpondylocarpotarsal synostosis (C535780)
..expandSymphalangism of Toes (C566101)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSyndactyly (D013576) Child69
..expandSynostoses, tarsal, carpal, and digital (C538156)
..expandSynostosis of Talus and Calcaneus with Short Stature (C566089)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTsukahara Syndrome (C566376)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9585
Name:Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D009123|MESH:D013580
TreeNumbers:C05.116.099.370.894/C564856 |C05.660.906/C564856 |C10.597.613.575/C564856 |C16.131.621.906/C564856 |C23.888.592.608.575/C564856 |F03.550.362/C564856
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564856
MeSH: C564856
OMIM: 266255;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003083Dislocated radial head
3 HP:0000268Dolichocephaly
4 HP:0001290Generalized hypotonia
5 HP:0001263Global developmental delay
6 HP:0000276Long face
7 HP:0000256Macrocephaly
8 HP:0000275Narrow face
9 HP:0000448Prominent nose
10 HP:0002974Radioulnar synostosis
Disease Causing ClinVar Variants