MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandanorectal malformation (MONDO:0019938)
..Starting node
..expandsyndromic anorectal malformation ()

       Child Nodes:
........expand22q11.2 deletion syndrome ()
........expand46,XX disorder of sex development-anorectal anomalies syndrome ()
........expand6q terminal deletion syndrome ()
........expandankyloblepharon filiforme-imperforate anus syndrome ()
........expandAxenfeld-Rieger syndrome ()
........expandaxial mesodermal dysplasia spectrum ()
........expandBaller-Gerold syndrome ()
........expandBNAR syndrome ()
........expandcat-eye syndrome ()
........expandcataract-intellectual disability-anal atresia-urinary defects syndrome ()
........expandcaudal duplication ()
........expandcaudal regression-sirenomelia spectrum ()
........expandcloacal exstrophy (disease) ()
........expandCurrarino triad ()
........expanddistal monosomy 13q ()
........expandDuane-radial ray syndrome ()
........expandeven-plus syndrome ()
........expandFG syndrome 1 ()
........expandFraser syndrome ()
........expandGoldberg-Shprintzen megacolon syndrome ()
........expandHirschsprung disease-deafness-polydactyly syndrome ()
........expandHirschsprung disease-ganglioneuroblastoma syndrome ()
........expandHirschsprung disease-nail hypoplasia-dysmorphism syndrome ()
........expandHirschsprung disease-type D brachydactyly syndrome ()
........expandJohanson-Blizzard syndrome ()
........expandKabuki syndrome ()
........expandLowe-Kohn-Cohen syndrome ()
........expandmaternal uniparental disomy of chromosome 16 ()
........expandMayer-Rokitansky-KC ()
........expandmicrophthalmia with linear skin defects syndrome ()
........expandmonosomy 13q34 ()
........expandOpitz G/BBB syndrome ()
........expandPallister-hall syndrome ()
........expandpelvis syndrome ()
........expandRenpenning syndrome ()
........expandring chromosome 13 ()
........expandshort rib-polydactyly syndrome, Verma-Naumoff type ()
........expandskeletal dysplasia-intellectual disability syndrome ()
........expandspondylocostal dysostosis-anal and genitourinary malformations syndrome ()
........expandsyndactyly-telecanthus-anogenital and renal malformations syndrome ()
........expandtetrasomy 12p ()
........expandTownes-Brocks syndrome ()
........expandtrisomy 13 ()
........expandtrisomy 18 ()
........expandulnar-mammary syndrome ()
........expandVACTERL with hydrocephalus ()
........expandVACTERL/vater association ()



 Sister Nodes: 
..expandisolated anorectal malformation ()
..expandrectal duplication ()
..expandsyndromic anorectal malformation ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15246
Name:syndromic anorectal malformation
Definition:A anorectal malformation that is part of a larger syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:syndrome associated with anorectal malformation; syndrome associated with anorectal malformation; syndromic anorectal malformation
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal