MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Abnormalities, Multiple (D000015)
Parent Node:
expand
Bone Diseases, Developmental (D001848)
Parent Node:
expand
Corneal Dystrophies, Hereditary (D003317)
Parent Node:
expand
Craniofacial Abnormalities (D019465)
Parent Node:
expand
Kidney Diseases, Cystic (D052177)
..Starting node
..expand
Brachymesomelia renal syndrome (C537096)

       Child Nodes:



 Sister Nodes: 
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBrachymesomelia renal syndrome (C537096)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandGlomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert syndrome 4 (C536296)
..expandJoubert Syndrome 7 (C566916)
..expandMedullary Sponge Kidney (D007691) Child1
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandNEPHRONOPHTHISIS 11 (OMIM:613550)
..expandNEPHRONOPHTHISIS 12 (OMIM:613820)
..expandNEPHRONOPHTHISIS 14 (OMIM:614844)
..expandNEPHRONOPHTHISIS 15 (OMIM:614845)
..expandNEPHRONOPHTHISIS 16 (OMIM:615382)
..expandNEPHRONOPHTHISIS 18 (OMIM:615862)
..expandNEPHRONOPHTHISIS 19 (OMIM:616217)
..expandNephronophthisis 2 (C566582)
..expandNEPHRONOPHTHISIS 20 (OMIM:617271)
..expandNephronophthisis 3 (C565780)
..expandNephronophthisis 4 (C564640)
..expandNephronophthisis 7 (C566930)
..expandNEPHRONOPHTHISIS 9 (OMIM:613824)
..expandNephronophthisis, familial juvenile (C537699)
..expandPolycystic Kidney Diseases (D007690) Child21
..expandRenal cysts and diabetes syndrome (C535520)
..expandRENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken syndrome 4 (C537581)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandTsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1537
Name:Brachymesomelia renal syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D001848|MESH:D003317|MESH:D019465|MESH:D052177
TreeNumbers:C05.116.099/C537096 |C05.660.207/C537096 |C11.204.236/C537096 |C11.270.162/C537096 |C12.777.419.403/C537096 |C13.351.968.419.403/C537096 |C16.131.077/C537096 |C16.131.621.207/C537096 |C16.320.290.162/C537096
Synonyms:Brachymesomelia-renal syndrome |Langer Nishino Yamaguchi syndrome
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537096
MeSH: C537096
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal