Search Ontology:
Human Disease
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- Term ID
- DOID:0081072
- Synonyms
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- Cerebro-facio-thoracic dysplasia
- Cerebrofaciothoracic dysplasia
- Pascual-Castroviejo syndrome
- TMCO1 defect syndrome
- 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. (4)
- References
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- GARD:1210
- MIM:PS213980
- ORDO:1394
- Ontology
- Human Disease ( DOID:0081072 )
- is a type of
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- has subtype
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Other Pages
Genes Involved
Zebrafish Models