Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Disease ID: disease_node_20272
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| Dbxref | GARD:1210, MIM:PS213980, ORDO:1394 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | Cerebro-facio-thoracic dysplasia, Cerebrofaciothoracic dysplasia, Pascual-Castroviejo syndrome, TMCO1 defect syndrome |
| Doid Label | craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
| Doid 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. |
| Disease Node Id | disease_node_20272 |
| Doid Id | DOID_0081072 |
| Label | Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1(ID:disease_node_20274) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2(ID:disease_node_20273) (Disease)