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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
 xref: GARD:8754;   MESH:C535858;   MIM:215140;   MONDO:0008974;   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: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA 		OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      bone development disease 1148
        osteochondrodysplasia 687
          Greenberg dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Hemic and Lymphatic Diseases 1951
        hematopoietic system disease 1590
          anemia 438
            normocytic anemia 339
              hemolytic anemia 228
                congenital hemolytic anemia 170
                  hemoglobinopathy 135
                    thalassemia 102
                      alpha thalassemia 65
                        Hydrops Fetalis 56
                          Greenberg dysplasia 1
paths to the root