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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:autosomal recessive chronic granulomatous disease cytochrome b-negative
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Accession:DOID:0070193 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms:exact_synonym: CGD due to deficiency of the alpha subunit of cytochrome b;   CGD4;   CYBA Deficiency;   autosomal recessive chronic granulomatous disease 4;   autosomal recessive cytochrome b-negative CGD;   chronic granulomatous disease due to deficiency of CYBA;   chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
 primary_id: MESH:C565533
 alt_id: OMIM:233690
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1415254, PMID:1763037, PMID:2243141, PMID:3368442, PMID:3571224, PMID:4384563, PMID:9445163, PMID:10440830, PMID:10759707, PMID:10910929, PMID:10914676, PMID:12073015, PMID:18422995, PMID:19292887, PMID:19388116, PMID:19949658, PMID:20167518, PMID:20674832, PMID:22336310, PMID:22876374, PMID:22924696, PMID:25741868, PMID:27537055, PMID:27980538, PMID:28492532, PMID:29454792, PMID:30470980, PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      respiratory system disease 2745
        lung disease 1639
          chronic granulomatous disease 20
            autosomal recessive chronic granulomatous disease cytochrome b-negative 2
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
            Infectious Skin Diseases 167
              cellulitis 33
                chronic granulomatous disease 20
                  autosomal recessive chronic granulomatous disease cytochrome b-negative 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.