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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lipomatosis
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Accession:DOID:3153 term browser browse the term
Definition:A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
Synonyms:exact_synonym: Lipomatoses
 primary_id: MESH:D008068;   RDO:0000730
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
lipomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cel carboxyl ester lipase ISO associated with Prediabetic State; DNA:deletion:exon RGD PMID:17259390 RGD:2313965 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11748304 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar
OMIM
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
Pierpont syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X receptor 1 ISO ClinVar Annotator: match by term: Pierpont syndrome
ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
ClinVar Annotator: match by term: Plantar lipomatosis, unusual facies, and developmental delay
ClinVar
OMIM
PMID:9450851 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19760657 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
JBrowse link
Shwachman-Diamond syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar Annotator: match by term: Shwachman syndrome
ClinVar Annotator: match by OMIM:260400
ClinVar
OMIM
RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Shwachman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28972538 PMID:29914977 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      skin disease 2992
        lipomatosis 10
          Encephalocraniocutaneous Lipomatosis 1
          Familial Multiple Lipomatosis 0
          Hapnes Boman Skeie Syndrome 0
          Pancreatic Lipomatosis Duodenal Stenosis 0
          Pelvic Lipomatosis with Crossed Renal Ectopia 0
          Pierpont syndrome 1
          Shwachman-Diamond syndrome 6
          adiposis dolorosa 0
          diffuse lipomatosis 0
          mediastinal lipomatosis 0
          multiple symmetric lipomatosis 0
          pelvic lipomatosis 0
          steroid lipomatosis 0
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          inherited metabolic disorder 2650
            lipid metabolism disorder 1017
              lipomatosis 10
                Encephalocraniocutaneous Lipomatosis 1
                Familial Multiple Lipomatosis 0
                Hapnes Boman Skeie Syndrome 0
                Pancreatic Lipomatosis Duodenal Stenosis 0
                Pelvic Lipomatosis with Crossed Renal Ectopia 0
                Pierpont syndrome 1
                Shwachman-Diamond syndrome 6
                adiposis dolorosa 0
                diffuse lipomatosis 0
                mediastinal lipomatosis 0
                multiple symmetric lipomatosis 0
                pelvic lipomatosis 0
                steroid lipomatosis 0
paths to the root