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DO Term : Mulchandani-Bhoj-Conlin syndrome [DOID:0111714] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:96186,
  • UPD(20)mat,
  • SNOMEDCT_US_2023_03_01:715735007,
  • OMIM:617352,
  • maternal uniparental disomy of chromosome 20,
  • UMLS_CUI:C4275029,
  • MBCS,
  • 617352,
  • maternal UPD(20)
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents