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Disease Ontology Browser
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (DOID:0081072)
Alliance: disease page
Synonyms: Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; Pascual-Castroviejo syndrome; TMCO1 defect syndrome
Alt IDs: OMIM:PS213980, ORDO:1394
Definition: 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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory