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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 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
OMIM
ClinVar
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      bone development disease 1760
        osteochondrodysplasia 604
          Greenberg dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  hemoglobinopathy 133
                    thalassemia 102
                      alpha thalassemia 69
                        Hydrops Fetalis 58
                          Greenberg dysplasia 1
paths to the root