Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandSynostoses, tarsal, carpal, and digital (C538156)

       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:10811
Name:Synostoses, tarsal, carpal, and digital
Definition:
Alternative IDs:
ParentIDs:MESH:D013580
TreeNumbers:C05.116.099.370.894/C538156 |C05.660.906/C538156 |C16.131.621.906/C538156
Synonyms:Calcaneonavicular coalition
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538156
MeSH: C538156
OMIM: 186400;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001798Anonychia
3 HP:0009843Aplasia/Hypoplasia of the middle phalanges of the hand
4 HP:0009702Carpal synostosis
5 HP:0005880Metacarpophalangeal synostosis
6 HP:0003048Radial head subluxation
7 HP:0010049Short metacarpal
8 HP:0008368Tarsal synostosis
9 HP:0000430Underdeveloped nasal alae
Disease Causing ClinVar Variants