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DO Term : craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [DOID:0081072] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills.
  • synonyms:
  • Cerebrofaciothoracic dysplasia,
  • GARD:1210,
  • Pascual-Castroviejo syndrome,
  • TMCO1 defect syndrome,
  • Cerebro-facio-thoracic dysplasia,
  • PS213980,
  • OMIM:PS213980,
  • ORDO:1394
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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