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Lethal Osteosclerotic Bone Dysplasia (MONDO:0009821)

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0009821

Internal:11028

Synonyms

RAINE syndrome

Raine syndrome

lethal osteosclerotic bone dysplasia

osteomalacia, sclerosing, with cerebral calcification

osteosclerotic bone dysplasia, lethal

RNS

combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis

Mapped terms

GARD:0000282

MEDGEN:342416

MESH:C535282

MESH:C564916

OMIM:259660

OMIM:259775

Orphanet:1832

UMLS:C1850106

icd11.foundation:1306493470

Child terms

Unknown children.

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