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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)

       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:5279
Name:Humeroradial Synostosis with Craniofacial Anomalies
Definition:
Alternative IDs:
ParentIDs:MESH:D013580|MESH:D019465
TreeNumbers:C05.116.099.370.894/C566888 |C05.660.207/C566888 |C05.660.906/C566888 |C16.131.621.207/C566888 |C16.131.621.906/C566888
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566888
MeSH: C566888
OMIM: 236410;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000248Brachycephaly
3 HP:0009702Carpal synostosis
4 HP:0002007Frontal bossing
5 HP:0003041Humeroradial synostosis
6 HP:0008551Microtia
7 HP:0001357Plagiocephaly
8 HP:0011220Prominent forehead
9 HP:0000385Small earlobe
10 HP:0008368Tarsal synostosis
11 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants