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osteocraniostenosis

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Uniprot Description A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels.
Mondo Term and Equivalent IDs
MONDO:0011215:  osteocraniostenosis
GARD:0003396: 
MESH:C537291: 
Orphanet:2763: 
SCTID:722109008: 
UMLS:C1865639: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found