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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:11554173
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:11554173
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam98b family with sequence similarity 98, member B JBrowse link 3 108,944,094 108,977,480 RGD:8554872
G Rasgrp1 RAS guanyl releasing protein 1 JBrowse link 3 108,984,029 109,044,420 RGD:8554872
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:7240710
RGD:8554872
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        pigmentation disease 210
          Cafe-au-Lait Spots 7
            Cafe au lait Spots, Multiple 2
            Gastrocutaneous Syndrome 0
            Legius Syndrome 3
            Watson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            pigmentation disease 210
              Cafe-au-Lait Spots 7
                Cafe au lait Spots, Multiple 2
                Gastrocutaneous Syndrome 0
                Legius Syndrome 3
                Watson Syndrome 1
paths to the root