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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 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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chrNW_004955416:5,288,779...5,376,861
Ensembl chrNW_004955416:5,288,262...5,377,036
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 chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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 chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
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 chrNW_004955416:5,457,232...5,486,744
Ensembl chrNW_004955416:5,457,274...5,487,042
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 chrNW_004955416:5,494,030...5,561,608
Ensembl chrNW_004955416:5,494,030...5,561,614
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 chrNW_004955416:5,288,779...5,376,861
Ensembl chrNW_004955416:5,288,262...5,377,036
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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13486
    sensory system disease 5618
      skin disease 3342
        pigmentation disease 385
          Cafe-au-Lait Spots 8
            Cafe au lait Spots, Multiple 2
            Gastrocutaneous Syndrome 0
            Legius Syndrome 3
            Watson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 13486
    disease of anatomical entity 13221
      nervous system disease 11280
        sensory system disease 5618
          skin disease 3342
            pigmentation disease 385
              Cafe-au-Lait Spots 8
                Cafe au lait Spots, Multiple 2
                Gastrocutaneous Syndrome 0
                Legius Syndrome 3
                Watson Syndrome 1
paths to the root