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parietal foramina with cleidocranial dysplasia

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Uniprot Description Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
Mondo Term and Equivalent IDs
MONDO:0008198:  parietal foramina with cleidocranial dysplasia
MESH:C566825: 
Orphanet:251290: 
UMLS:C1868597: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found