obsolete metaphyseal dysplasia inherited aplastic anemia syndromic disease pancreas disorder autosomal recessive disease Shwachman-Diamond syndrome https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome https://www.malacards.org/card/shwachman_diamond_syndrome_1 NORD:1711 MEDGEN:124418 DOID:0080023 Shwachman-Bodian-Diamond syndrome Shwachman Diamond Syndrome DOID:0060479 NANDO:2200756 NCIT:C61235 SDS MESH:C537330 MedDRA:10067940 OMIMPS:260400 SCTID:89454001 GARD:0004863 Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. congenital lipomatosis of pancreas UMLS:C0272170 NANDO:1200356 Shwachman syndrome MONDO:0009833 Shwachman-Diamond syndrome Orphanet:811 pancreatic insufficiency and bone marrow dysfunction Schwachmann-Diamond syndrome icd11.foundation:232885463 Schwachman-Diamond syndrome obsolete polymalformative genetic syndrome with increased risk of developing cancer functional neutrophil defect obsolete multiple metaphyseal dysplasia