ZFIN Human Disease: Shwachman-Diamond syndrome

OBO ID: DOID:0060479

Term Name:	Shwachman-Diamond syndrome		Search Ontology:
Synonyms:	pancreatic insufficiency and bone marrow dysfunction Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia
Definition:	A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (4)
References:	GARD:4863 ICD10CM:D61.0 MESH:C537330 OMIM:260400
Ontology:	Human Disease ( DOID:0060479 )

Relationships

is a type of:	syndrome syndrome Show first 5 Terms

OTHER Shwachman-Diamond syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SBDS	sbds	Shwachman-Diamond syndrome 1	260400

ZEBRAFISH MODELS

Fish	Conditions	Citations
pes^hi2Tg/hi2Tg	standard conditions	Provost et al., 2012
AB/TU + MO1-sbds	standard conditions	Venkatasubramani et al., 2008
AB/TU + MO2-sbds	standard conditions	Venkatasubramani et al., 2008
AB/TU + MO3-sbds	standard conditions	Venkatasubramani et al., 2008
i114Tg; nz50Tg + MO1-srp54	standard conditions	Carapito et al., 2017
jh1Tg; jh2Tg + MO4-sbds	standard conditions	Provost et al., 2012
rpl3^hi2437Tg/+; jh1Tg; jh2Tg	standard conditions	Provost et al., 2012

PHENOTYPE No data available

CITATIONS (5)