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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Neoplasm of fatty tissue
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Accession:HP:0200013 term browser browse the term
Definition:A tumor (abnormal growth of tissue) of adipose tissue.
Synonyms:exact_synonym: Tumor of fatty tissue;   Tumour of fatty tissue
 xref: NCI:C3262;   UMLS:C4021901


show annotations for term's descendants           Sort by:
Filum terminale lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO PMID:30715179 MIM:618351 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
Frontal cutaneous lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
Lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 ORPHA:201 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:247806 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP HPO MIM:182940 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO ORPHA:93921 NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO MIM:182940 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:93921 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO PMID:36322655 MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO PMID:7607663 PMID:8664912 PMID:9101303 PMID:17160901 PMID:26178382 More... MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:93921 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO PMID:22658544 MIM:612918 ORPHA:201 ORPHA:314662 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:93921 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TBXT T-box transcription factor T IAGP HPO MIM:182940 NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:182940 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO MIM:182940 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
Midline central nervous system lipomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:25105228 PMID:26706854 MIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Multiple central nervous system lipomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
Multiple lipomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO MIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP HPO MIM:182940 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLCN folliculin IAGP HPO PMID:8734663 MIM:135150 ORPHA:122 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO MIM:182940 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO MIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO ORPHA:210548 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO PMID:23541344 MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:1879 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO PMID:18458227 PMID:26085578 MIM:151800 ORPHA:2398 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO MIM:617675 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:551 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP HPO ORPHA:551 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:551 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:551 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:1349 ORPHA:551 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:551 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TP mitochondrially encoded tRNA-Pro (CCN) IAGP HPO ORPHA:551 NCBI chr MT:15,956...16,023
Ensembl chr MT:15,956...16,023 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:551 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:551 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:551 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:276280 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PRDM10 PR/SET domain 10 IAGP HPO PMID:36440963 MIM:620459 ORPHA:122 NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:210548 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO PMID:17704776 MIM:611431 ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G TBXT T-box transcription factor T IAGP HPO MIM:182940 NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:182940 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO MIM:182940 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
Pericallosal lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
Sacral lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
Subcutaneous lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 ORPHA:2969 ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Testicular lipomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:140944 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
Tubulonodular pericallosal lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:25105228 MIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Neoplasm 17977
        Neoplasm by anatomical site 17723
          Neoplasm of fatty tissue 60
            Lipomatous tumor + 60
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the musculoskeletal system 14151
        Abnormality of connective tissue 4794
          Abnormal adipose tissue morphology 320
            Neoplasm of fatty tissue 60
              Lipomatous tumor + 60
paths to the root