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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 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11748304 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27824329 PMID:28166811 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:30365874 PMID:30577886 PMID:31394400 NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
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 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
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
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:21695142 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25741868 PMID:26822237 PMID:28509441 PMID:32581362, PMID:12496757 RGD:1599541 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:173,640,385...173,670,790
Ensembl chr 2:173,640,385...173,668,555
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
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 6:75,996,629...76,035,768
Ensembl chr 6:75,996,643...76,034,083
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      skin disease 2745
        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 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            lipid metabolism disorder 926
              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