OBO ID: DOID:0111714
Term Name: Mulchandani-Bhoj-Conlin syndrome Search Ontology:
Synonyms:
  • maternal uniparental disomy of chromosome 20
  • maternal UPD(20)
  • MBCS
  • UPD(20)mat
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. https://www.ncbi.nlm.nih.gov/pubmed/26248010
References:
  • OMIM:617352
  • ORDO:96186
  • SNOMEDCT_US_2023_03_01:715735007
  • UMLS_CUI:C4275029
Ontology: Human Disease   ( DOID:0111714 )
Relationships
is a type of:
OTHER Mulchandani-Bhoj-Conlin syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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