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DO Term : 3MC syndrome [DOID:0060225] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
  • synonyms:
  • GARD:1118,
  • ICD10CM:Q87.8,
  • ORDO:293843,
  • PS257920,
  • oculopalatoskeletal syndrome,
  • OMIM:PS257920,
  • craniofacial-ulnar-renal syndrome
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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