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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:Griscelli syndrome
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Accession:DOID:0060831 term browser browse the term
Definition:An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)
Synonyms:exact_synonym: Chediak-Higashi-like syndrome;   Chédiak-Higashi-like syndrome;   Griscelli disease;   Griscelli-Prunieras syndrome;   Griscelli-Pruniéras syndrome;   partial albinism-immunodeficiency syndrome
 xref: GARD:10913;   OMIM:PS214450;   ORDO:381
For additional species annotation, visit the Alliance of Genome Resources.


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Griscelli syndrome term browser
Symbol Object Name 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 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 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by OMIM:609227
ClinVar Annotator: match by term: Griscelli syndrome type 3
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 16103
    syndrome 6989
      primary immunodeficiency disease 2344
        Griscelli syndrome 3
          Griscelli syndrome type 1 1
          Griscelli syndrome type 2 1
          Griscelli syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Hearing Disorders 613
                Hearing Loss 608
                  sensorineural hearing loss 487
                    Griscelli syndrome 3
                      Griscelli syndrome type 1 1
                      Griscelli syndrome type 2 1
                      Griscelli syndrome type 3 2
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.