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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: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: PBT;   Partial Albinism;   cutaneous albinism;   piebald trait
 narrow_synonym: PIEBALDISM WITH SENSORINEURAL DEAFNESS;   PIEBALDISM, PROGRESSIVE
 primary_id: MESH:D016116
 alt_id: OMIM: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 chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by OMIM:172800
ClinVar Annotator: match by term: Piebaldism, progressive
ClinVar Annotator: match by term: Piebaldism with sensorineural deafness
DNA:missense, frameshift mutations:cds:
ClinVar Annotator: match by term: Partial albinism
OMIM
ClinVar
PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 PMID:1720553 PMID:7529964 PMID:9450866 PMID:9699740 PMID:11074500 PMID:11174389 PMID:11380399 PMID:16081693 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24728327 PMID:25079768 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:31775759, PMID:1717985, PMID:1370874 RGD:1600045, RGD:12910729 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by OMIM:172800
ClinVar
OMIM
PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914, PMID:12444107 RGD:1600041 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
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 disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450
OMIM
ClinVar
PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
Griscelli syndrome type 2 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 type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624
OMIM
ClinVar
PMID:8319705 PMID:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 OMIM:609227
OMIM
ClinVar
PMID:12148598 PMID:12897212 PMID:25741868 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      skin disease 2715
        Genetic Skin Diseases 893
          Albinism 47
            piebaldism 6
              Ermine Phenotype 0
              Griscelli syndrome + 3
              Telfer Sugar Jaeger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          skin disease 2715
            pigmentation disease 217
              Hypopigmentation 105
                Albinism 47
                  piebaldism 6
                    Ermine Phenotype 0
                    Griscelli syndrome + 3
                    Telfer Sugar Jaeger Syndrome 0
paths to the root