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Preferred Name

SHWACHMAN-DIAMOND SYNDROME 1
Synonyms

SDS
ID

http://purl.bioontology.org/ontology/OMIM/260400
altLabel

SDS

PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION

SHWACHMAN-BODIAN SYNDROME

LIPOMATOSIS OF PANCREAS, CONGENITAL

SDS1

SHWACHMAN-DIAMOND SYNDROME
cui

C0272170

C4692625
Gene Locus

7q11
Gene Symbol

SDS

SBDS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU002784

http://purl.bioontology.org/ontology/OMIM/MTHU058445

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU010289

http://purl.bioontology.org/ontology/OMIM/MTHU009718

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU010299

http://purl.bioontology.org/ontology/OMIM/MTHU010293

http://purl.bioontology.org/ontology/OMIM/MTHU010291

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU010297

http://purl.bioontology.org/ontology/OMIM/MTHU010295

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU002415

http://purl.bioontology.org/ontology/OMIM/MTHU005829

http://purl.bioontology.org/ontology/OMIM/MTHU010301

http://purl.bioontology.org/ontology/OMIM/MTHU008485

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU009985

http://purl.bioontology.org/ontology/OMIM/MTHU058444

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU003335

http://purl.bioontology.org/ontology/OMIM/MTHU058442

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU010290

http://purl.bioontology.org/ontology/OMIM/MTHU010296

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU010288

http://purl.bioontology.org/ontology/OMIM/MTHU010300

http://purl.bioontology.org/ontology/OMIM/MTHU010298

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU010292

http://purl.bioontology.org/ontology/OMIM/MTHU010302

http://purl.bioontology.org/ontology/OMIM/MTHU058443
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

260400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SHWACHMAN-DIAMOND SYNDROME 1
Scope Statement

Broad range in severity of presentation in sibships [MISCELLANEOUS]

Caused by mutation in the SBDS ribosome maturation factor gene (SBDS, 607444.0001) [MOLECULAR BASIS]

Increased susceptibility to infection [MISCELLANEOUS]

Moderate age-related improvement of pancreatic function [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0044204 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000081003 Medical Subject Headings / 医学主题词表 CUI