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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: MIM: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 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:23824842 More... RGD:9588626 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Greenberg dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      Hemic and Lymphatic Diseases 4043
        hematopoietic system disease 3531
          anemia 858
            normocytic anemia 752
              hemolytic anemia 431
                congenital hemolytic anemia 362
                  hemoglobinopathy 248
                    thalassemia 216
                      alpha thalassemia 77
                        Hydrops Fetalis 60
                          Greenberg dysplasia 1
paths to the root