FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mulchandani-Bhoj-Conlin syndrome ID (Ontology) DOID:0111714 (Human Disease)
Definition A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
Also Known As "maternal uniparental disomy of chromosome 20" ; "maternal UPD(20)" ; "MBCS" (for all, see Synonyms field below)
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   |__syndrome
       |__Mulchandani-Bhoj-Conlin syndrome
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Synonyms
  • "maternal uniparental disomy of chromosome 20" EXACT
    "maternal UPD(20)" EXACT
    "MBCS" EXACT OMO:0003012
    "UPD(20)mat" EXACT OMO:0003012
Secondary IDs
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MIM:617352
ORDO:96186
SNOMEDCT_US_2023_03_01:715735007
UMLS_CUI:C4275029