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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:piebaldism
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Accession:DOID:3263 term browser browse the term
Definition:An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. (DO)
Comment:DO: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
Synonyms:exact_synonym: PBT;   cutaneous albinism;   partial albinism;   piebald trait
 narrow_synonym: PIEBALDISM WITH SENSORINEURAL DEAFNESS;   PIEBALDISM, PROGRESSIVE
 primary_id: MESH:D016116
 alt_id: MIM:172800
 xref: GARD:4344;   ICD10CM:E70.39;   NCI:C85009;   ORDO:2884
For additional species annotation, visit the Alliance of Genome Resources.



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piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO
ISS
DNA:missense, frameshift mutations:cds:
CTD Direct Evidence: marker/mechanism
OMIM:172800
ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... RGD:1600045, RGD:12910729 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Piebaldism
ClinVar
RGD
PMID:12444107 PMID:12955764 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1600041 NCBI chr11:99,686,934...99,690,349
Ensembl chr11:99,686,934...99,690,349
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:82,663,276...82,717,262
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO
ISS
OMIM:214450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
OMIM
MouseDO
CTD
ClinVar
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:82,600,677...82,633,082
Ensembl chr 8:82,600,536...82,660,246
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:82,577,044...82,601,653
Ensembl chr 8:82,578,755...82,592,205
JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:82,596,034...82,600,500
Ensembl chr 8:82,591,000...82,600,852
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:82,632,445...82,656,323
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:82,663,276...82,717,262
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 9:98,955,036...98,990,566
Ensembl chr 9:98,955,141...98,990,556
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    sensory system disease 7403
      skin disease 4342
        Genetic Skin Diseases 1875
          Albinism 113
            piebaldism 10
              Ermine Phenotype 0
              Griscelli syndrome + 7
              Telfer Sugar Jaeger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13669
      Signs and Symptoms 11239
        Neurologic Manifestations 10484
          sensory system disease 7403
            skin disease 4342
              pigmentation disease 335
                Hypopigmentation 174
                  Albinism 113
                    piebaldism 10
                      Ermine Phenotype 0
                      Griscelli syndrome + 7
                      Telfer Sugar Jaeger Syndrome 0
paths to the root