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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:Greenberg dysplasia
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Accession:DOID:0111588 term browser browse the term
Definition:An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (DO)
Synonyms:exact_synonym: GRBGD;   Greenberg Skeletal Dysplasia;   HEM Dysplasia;   Hem Skeletal Dysplasia;   autosomal recessive lethal chondrodystrophy with congenital hydrops;   hydropic chondrodystrophy and prenatally lethal type;   hydrops-ectopic calcification-moth-eaten skeletal dysplasia;   hydrops-ectopic calcification-motheaten syndrome;   moth-eaten skeletal dysplasia;   skeletal dysplasia, Greenberg type
 primary_id: MESH:C535858
 alt_id: OMIM:215140
 xref: GARD:8754;   ORDO:1426
For additional species annotation, visit the Alliance of Genome Resources.


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Greenberg dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Greenberg dysplasia
OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr13:93,539,360...93,564,065 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      bone development disease 1414
        osteochondrodysplasia 478
          Greenberg dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1907
          anemia 429
            normocytic anemia 201
              hemolytic anemia 201
                congenital hemolytic anemia 155
                  hemoglobinopathy 120
                    thalassemia 89
                      alpha thalassemia 56
                        Hydrops Fetalis 46
                          Greenberg dysplasia 1
paths to the root