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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:Cafe-au-Lait Spots
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Accession:DOID:9002453 term browser browse the term
Definition:Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Synonyms:exact_synonym: Cafe-au-Lait Spot
 primary_id: MESH:D019080;   RDO:0000894
For additional species annotation, visit the Alliance of Genome Resources.


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Cafe-au-Lait Spots term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:1856829 PMID:2336380 PMID:8541450 PMID:11757579 PMID:12205126 PMID:12417303 PMID:15880727 PMID:18541450 PMID:19768653 PMID:20033295 PMID:20882353 PMID:23430936 PMID:28492532 PMID:30311386 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:2842249 PMID:8496742 PMID:11020638 PMID:15260953 PMID:16632466 PMID:19652145 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:22933743 PMID:23409136 PMID:23483595 PMID:24088041 PMID:24100174 PMID:24123283 PMID:24431296 PMID:24436111 PMID:24468074 PMID:24631656 PMID:24739246 PMID:24842602 PMID:24996492 PMID:25359261 PMID:25523819 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26633545 PMID:27091223 PMID:28293679 PMID:28492532 PMID:29184165 PMID:30311386 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Ethe1 ETHE1, persulfide dioxygenase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:28933811 PMID:30311386 NCBI chr 1:81,457,008...81,472,061
Ensembl chr 1:81,456,984...81,472,097
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot
ClinVar Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:9463322 PMID:10607834 PMID:10712197 PMID:10862084 PMID:10874316 PMID:12807981 PMID:16786508 PMID:16835897 PMID:16944272 PMID:21520333 PMID:23404336 PMID:23668869 PMID:23913538 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26908603 PMID:26973730 PMID:27171602 PMID:27482814 PMID:28492532 PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:1258892 PMID:1543375 PMID:4025385 PMID:4386970 PMID:8530013 PMID:9222968 PMID:11704759 PMID:12960218 PMID:15121796 PMID:15928039 PMID:16369799 PMID:16523510 PMID:17056636 PMID:17222357 PMID:17339163 PMID:17875892 PMID:18241070 PMID:19206169 PMID:19467855 PMID:21396583 PMID:21500339 PMID:21533187 PMID:22190897 PMID:24033266 PMID:24891296 PMID:24935154 PMID:25741868 PMID:26249544 PMID:26297936 PMID:27521173 PMID:27562378 PMID:27619028 PMID:28492532 PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot
ClinVar Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:28492532 PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Cafe au lait Spots, Multiple term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:21056691 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots
ClinVar Annotator: match by term: Cafe au lait spots, multiple
ClinVar PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8664912 PMID:8834249 PMID:8837715 PMID:9003501 PMID:9150739 PMID:9180088 PMID:9475595 PMID:9783703 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:11258625 PMID:11857752 PMID:12566521 PMID:12807981 PMID:14517963 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15846561 PMID:15863657 PMID:16199547 PMID:16380919 PMID:16479075 PMID:16513807 PMID:16544997 PMID:16786508 PMID:16835897 PMID:16941471 PMID:16944272 PMID:17209131 PMID:17311297 PMID:17406642 PMID:17551851 PMID:17914445 PMID:17960768 PMID:18484666 PMID:18546366 PMID:19076627 PMID:19142971 PMID:19738042 PMID:19845691 PMID:21278392 PMID:21354044 PMID:21520333 PMID:21838856 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22807134 PMID:23010473 PMID:23244495 PMID:23404336 PMID:23460398 PMID:23583981 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24789688 PMID:25240281 PMID:25324867 PMID:25325900 PMID:25403449 PMID:25525159 PMID:25541118 PMID:25741868 PMID:25788518 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26514327 PMID:26969325 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27716896 PMID:27838393 PMID:28008555 PMID:28068329 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29872168 PMID:29914388 PMID:30291346 PMID:30308447 PMID:30311386 PMID:30530636 PMID:31533797 PMID:31595648 PMID:31717729 PMID:32126153 PMID:32581362 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Legius Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr 3:108,944,094...108,977,480 JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr 3:108,984,029...109,044,420
Ensembl chr 3:108,984,029...109,044,420
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome
ClinVar Annotator: match by OMIM:611431
OMIM
ClinVar
PMID:3128965 PMID:11493923 PMID:15683364 PMID:17704776 PMID:19366998 PMID:19443465 PMID:19920235 PMID:20179001 PMID:20339110 PMID:21089071 PMID:21495177 PMID:21548021 PMID:21649642 PMID:22751498 PMID:22753041 PMID:24033266 PMID:24334617 PMID:24469042 PMID:25074460 PMID:25741868 PMID:25883013 PMID:25981987 PMID:26214305 PMID:26635368 PMID:27081556 PMID:27763634 PMID:28150585 PMID:28492532 PMID:28747691 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
Watson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:1770531 PMID:6025371 PMID:7904209 PMID:8317503 PMID:9375928 PMID:9654211 PMID:9691142 PMID:10090487 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:10980545 PMID:11857752 PMID:12522551 PMID:12552569 PMID:12807981 PMID:14569132 PMID:15060124 PMID:15146469 PMID:15221447 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16542390 PMID:16786042 PMID:16835897 PMID:16944272 PMID:16961930 PMID:17105749 PMID:17160901 PMID:17369502 PMID:17726231 PMID:18041031 PMID:18172006 PMID:18484666 PMID:18546366 PMID:19117870 PMID:19539839 PMID:19920235 PMID:20142468 PMID:20602485 PMID:21089071 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22041710 PMID:22155606 PMID:22429592 PMID:22604720 PMID:22703879 PMID:22962301 PMID:23047742 PMID:23165953 PMID:23244495 PMID:23354915 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23812910 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24219125 PMID:24728327 PMID:24789688 PMID:24932921 PMID:25074460 PMID:25324428 PMID:25325900 PMID:25541118 PMID:25741868 PMID:25951773 PMID:26000329 PMID:26056819 PMID:26155992 PMID:26178382 PMID:26467025 PMID:26489445 PMID:26510091 PMID:26740943 PMID:26758488 PMID:27069254 PMID:27170677 PMID:27322474 PMID:27793025 PMID:28213670 PMID:28492532 PMID:28873162 PMID:28976792 PMID:29483232 PMID:29872168 PMID:30190611 PMID:30287823 PMID:30308447 PMID:30311386 PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      skin disease 2765
        pigmentation disease 242
          Cafe-au-Lait Spots 24
            Cafe au lait Spots, Multiple 6
            Gastrocutaneous Syndrome 0
            Legius Syndrome 3
            Watson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          skin disease 2765
            pigmentation disease 242
              Cafe-au-Lait Spots 24
                Cafe au lait Spots, Multiple 6
                Gastrocutaneous Syndrome 0
                Legius Syndrome 3
                Watson Syndrome 1
paths to the root