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parietal foramina with cleidocranial dysplasia
Disease Summary
Associated Targets (1)
Tbio
1
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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566825
OMIM:168550
Orphanet:251290
UMLS:C1868597
MONDO:0008198
High level summary of knowledge for a disease, including descriptions and datasource references.