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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:10607834 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component EXP CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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 IAGP 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:8837715 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:38,454,127...38,487,710
Ensembl chr15:38,454,127...38,487,710
JBrowse link
G LINC02694 long intergenic non-protein coding RNA 2694 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:38,696,598...38,700,038
Ensembl chr15:38,628,005...39,180,499
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP ClinVar Annotator: match by term: Legius syndrome
ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17704776 PMID:19366998 More... NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
Watson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis ClinVar PMID:25741868 NCBI chr17:31,093,605...31,095,366 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
ClinVar
OMIM
PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    sensory system disease 7186
      skin disease 4064
        pigmentation disease 475
          Cafe-au-Lait Spots 11
            Cafe au lait Spots, Multiple 2
            Gastrocutaneous Syndrome 0
            Legius Syndrome 4
            Watson Syndrome 2
Path 2
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      nervous system disease 16563
        sensory system disease 7186
          skin disease 4064
            pigmentation disease 475
              Cafe-au-Lait Spots 11
                Cafe au lait Spots, Multiple 2
                Gastrocutaneous Syndrome 0
                Legius Syndrome 4
                Watson Syndrome 2
paths to the root