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
Accession: DOID:3153
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
xref: EFO:1000728
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11748304
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
OMIM CTD ClinVar
PMID:10766980 PMID:11173846 PMID:14513299 PMID:15793702 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26822237 PMID:26942290 PMID:27626068 PMID:28492532 PMID:33448156 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
ClinVar
PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20147967 PMID:20570890 PMID:20805368 PMID:20949522 PMID:21063026 PMID:21079152 PMID:21371307 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23255105 PMID:24033266 PMID:24720724 PMID:25251940 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26242988 PMID:26521233 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30544177 PMID:30891959 PMID:30902772 PMID:31891627 PMID:32934698 PMID:34114335 PMID:34117033 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Madelung's disease
OMIM ClinVar
PMID:18458227 PMID:20008656 PMID:20350294 PMID:20482598 PMID:21715711 PMID:22492563 PMID:24033266 PMID:24126688 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26686600 PMID:28251916 PMID:28414270 PMID:28492532 PMID:29358271 PMID:30158064 PMID:33415332 PMID:33502018 PMID:37091313 More...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Tbl1xr1
TBL1X/Y related 1
ISO ISS
OMIM:602342 ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 PMID:18414213 PMID:19760657 PMID:21156281 PMID:21156282 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27133561 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:29777588 PMID:30365874 PMID:30577886 PMID:31394400 PMID:31618753 PMID:32369273 PMID:32619424 PMID:32932517 PMID:33527360 PMID:35165208 More...
NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Sbds
Sbds, ribosome maturation factor
susceptibility
ISO ISS
DNA:mutations:multiple ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 OMIM:260400 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21536732 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:27290639 PMID:27418648 PMID:28102861 PMID:28509441 PMID:31321910 PMID:31589614 PMID:32150944 PMID:32581362 PMID:33607811 PMID:33871916 PMID:34308104 PMID:34625797 PMID:34758064 PMID:36835434 PMID:12496757 More...
RGD:1599541
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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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
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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
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Srp54a
signal recognition particle 54A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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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
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