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Mowat-Wilson syndrome due to monosomy 2q22

MedGen UID:
1723926
•Concept ID:
C5437617
•
Disease or Syndrome
Synonyms: Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Hirschsprung disease and intellectual disability due to del(2)(q22); Hirschsprung disease and intellectual disability due to monosomy 2q22; Mowat-Wilson syndrome due to 2q22 microdeletion; Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy type 2q22
SNOMED CT: Hirschsprung disease and intellectual disability due to del(2)(q22) (890118006); Hirschsprung disease and intellectual disability due to monosomy 2q22 (890118006); Hirschsprung disease and intellectual disability due to 2q22 microdeletion (890118006); Mowat-Wilson syndrome due to del(2)q(22) (890118006); Mowat-Wilson syndrome due to monosomy 2q22 (890118006); Mowat-Wilson syndrome due to 2q22 microdeletion (890118006)
 
Monarch Initiative: MONDO:0016855
Orphanet: ORPHA261537

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMowat-Wilson syndrome due to monosomy 2q22

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