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DO Term : microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DOID:0060349] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
  • synonyms:
  • lymphedema, microcephaly and chorioretinopathy syndrome,
  • microcephaly lymphedema chorioretinal dysplasia,
  • UMLS_CUI:C1835265,
  • microcephaly, lymphedema, chorioretinal dysplasia syndrome,
  • lymphedema and retinal folds with ficrocephaly and microphthalmos,
  • chorioretinal dysplasia-microcephaly-mental retardation syndrome,
  • ORDO:2526,
  • MESH:C537711,
  • 152950,
  • OMIM:152950
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Diseases --> Human genes

Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents