sitosterolemia (Q1336034)

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rare autosomal recessively inherited lipid metabolic disorder
  • phytosterolemia
  • SITOSTEROLEMIA
  • Stsl
  • Plant sterol storage disease
  • Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
  • Macrothrombocytopenia/Stomatocytosis, Mediterranean
Language Label Description Also known as
English
sitosterolemia
rare autosomal recessively inherited lipid metabolic disorder
  • phytosterolemia
  • SITOSTEROLEMIA
  • Stsl
  • Plant sterol storage disease
  • Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
  • Macrothrombocytopenia/Stomatocytosis, Mediterranean

Statements

OMIM ID
210250
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
Freebase ID
/m/0fffxt
1 reference
stated in
Q15241312 (Deleted Item)
publication date
28 October 2013
subclass of
Q15051322 (Deleted Item)
0 references
intestinal disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090019
Q55785804 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0008863
Q200779 (Deleted Item)
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0090019
Q10267817 (Deleted Item)
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090019
Orphanet ID
2882
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
UMLS CUI
C2749759
mapping relation type
Q39893184 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0008863
C0342907
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
Disease Ontology ID
DOID:0090019
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090019
instance of
Q42303753 (Deleted Item)
1 reference
reference URL
https://ddrare.nibiohn.go.jp/
retrieved
17 May 2019
Q929833 (Deleted Item)
0 references
Q112193867 (Deleted Item)
0 references
GARD rare disease ID
7653
2 references
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0008863
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
NCI Thesaurus ID
C125694
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
MeSH descriptor ID
C537345
mapping relation type
Q39893449 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0008863
C537345
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090019
ICD-10-CM
E78.0
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0008863
Microsoft Academic ID
2778466976
0 references
2908584632
0 references
KEGG ID
H00152
0 references
ICD-11 ID (Foundation)
808135226
0 references
Genetics Home Reference Conditions ID
sitosterolemia
0 references
WikiProjectMed ID
Sitosterolemia
0 references
Mondo ID
MONDO_0008863
0 references
 
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