Version 2.80

Description

The SBDS gene (Shwachman-Bodian-Diamond syndrome) [HGNC Gene ID:19440] is located on chromosome 7q11.21. This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008] [NCBI Gene ID:51119] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
SBDS gene
Part Display Name
SBDS gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-07-11
Construct for LOINC Short Name
SBDS gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35862-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35862-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SBDS 基因
Synonyms: SDS 综合征（胰腺功能不全、白细胞减少和干骺端发育障碍）;Shwachman-Bodian-Diamond 综合征;儿童胰腺功能不全伴有白细胞减少;先天性胰腺脂肪过多症;骨干骺蛸骨发育障碍
es-ES Spanish (Spain) Gen SBDS
it-IT Italian (Italy) SBDS, gene
Synonyms: Gene SBDS
et-EE Estonian (Estonia) SBDS geen
tr-TR Turkish (Turkey) SBDS geni
ru-RU Russian (Russian Federation) SBDS ген
nl-NL Dutch (Netherlands) SBDS-gen
Synonyms: SBDS gen
el-GR Greek (Greece) Γονίδιο SBDS
Synonyms: Γονίδιο SBDS