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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 Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:10607834 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
Cafe au lait Spots, Multiple 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: Cafe au lait spots, multiple ClinVar PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8837715 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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 3:104,134,759...104,164,249
Ensembl chr 3:104,134,824...104,163,704
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 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17704776 PMID:19366998 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
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: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      skin disease 3782
        pigmentation disease 451
          Cafe-au-Lait Spots 9
            Cafe au lait Spots, Multiple 2
            Gastrocutaneous Syndrome 0
            Legius Syndrome 3
            Watson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          skin disease 3782
            pigmentation disease 451
              Cafe-au-Lait Spots 9
                Cafe au lait Spots, Multiple 2
                Gastrocutaneous Syndrome 0
                Legius Syndrome 3
                Watson Syndrome 1
paths to the root