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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


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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 term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        inherited metabolic disorder 5521
          Greenberg dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Hemic and Lymphatic Diseases 3704
        hematopoietic system disease 3220
          anemia 753
            normocytic anemia 407
              hemolytic anemia 407
                congenital hemolytic anemia 337
                  hemoglobinopathy 227
                    thalassemia 195
                      alpha thalassemia 72
                        Hydrops Fetalis 59
                          Greenberg dysplasia 1
paths to the root