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ONTOLOGY REPORT - ANNOTATIONS


Term:piebaldism
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Accession:DOID:3263 term browser browse the term
Definition:Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Synonyms:exact_synonym: Cutaneous Albinism;   PBT;   Partial Albinism;   Piebald Trait
 narrow_synonym: PIEBALDISM WITH SENSORINEURAL DEAFNESS;   PIEBALDISM, PROGRESSIVE
 primary_id: MESH:D016116;   RDO:0000654
 alt_id: OMIM:172800
 xref: GARD:4344;   NCI:C85009
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piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738207
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:1600045
RGD:7240710
RGD:8554872
RGD:12910729
G Snai2 snail family transcriptional repressor 2 JBrowse link 11 90,404,421 90,406,730 RGD:1600041
RGD:8554872
RGD:7240710
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    sensory system disease 4663
      skin disease 2447
        Genetic Skin Diseases 752
          Albinism 48
            piebaldism 6
              Ermine Phenotype 0
              Griscelli syndrome + 3
              Telfer Sugar Jaeger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              Hereditary Eye Diseases 505
                Albinism 48
                  piebaldism 6
                    Ermine Phenotype 0
                    Griscelli syndrome + 3
                    Telfer Sugar Jaeger Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.