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cerebrofaciothoracic dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
Uniprot Description A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
Mondo Term and Equivalent IDs
MONDO:0008952:  cerebrofaciothoracic dysplasia
GARD:0001210: 
MESH:C565862: 
Orphanet:1394: 
SCTID:720635002: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found