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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 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 16058
    sensory system disease 5213
      skin disease 2758
        Genetic Skin Diseases 890
          Albinism 48
            piebaldism 6
              Ermine Phenotype 0
              Griscelli syndrome + 3
              Telfer Sugar Jaeger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hypopigmentation 103
                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.