| umls-concept:C0917715 | skos:definition | MSH: Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.,JABL: An osteolytic syndrome with skull deformities, characteristic facies, osteoporosis, premature loss of teeth, osteoporosis, joint laxity, short stature, dissolution of the terminal phalanges, haring loss, and a hoarse voice. Most patients have a normal mental development but some are mildly retarded.,NCI: A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility. | lld:umls |
