loading...| Preferred Name |
Shwachman-Diamond Syndrome |
| Synonyms |
Shwachman Diamond Oski Syndrome |
| Definitions |
An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome. |
| ID |
http://purl.bioontology.org/ontology/MESH/D000081003 |
| altLabel |
Shwachman Diamond Oski Syndrome Shwachman-Diamond-Oski Syndrome Shwachman Diamond Syndrome Metaphyseal Chondrodysplasia, Shwachman Type Shwachman Bodian Syndrome Pancreas Congenital Lipomatoses Shwachman Bodian Diamond Syndrome Shwachman Syndrome Congenital Lipomatosis of Pancreas Shwachman-Bodian-Diamond Syndrome Shwachman-Bodian Syndrome Pancreas Congenital Lipomatosis Pancreatic Insufficiency and Bone Marrow Dysfunction |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0272170 |
| DC |
1 |
| definition |
An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome. |
| DX |
20200101 |
| HN |
2020(2014) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2020; SHWACHMAN-DIAMOND SYNDROME was indexed under BONE MARROW DISEASES; LIPOMATOSIS; and EXOCRINE PANCREATIC INSUFFICIENCY 2014-2019 |
| MDA |
20190708 |
| MMR |
20210701 |
| MN |
C18.452.584.718.875 C15.378.190.223.500.875 C18.452.584.563.824 C06.689.276.500 |
| notation |
D000081003 |
| prefLabel |
Shwachman-Diamond Syndrome |
| TERMUI |
T000957022 T842453 T842452 T842451 T842450 T000957026 T000957020 T000957024 T000957021 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) NLM (2020) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D010188 http://purl.bioontology.org/ontology/MESH/D008068 |