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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:spondyloepimetaphyseal dysplasia, Pakistani type
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Accession:DOID:0050812 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)
Synonyms:exact_synonym: BCYM4;   SEMD, Pakistani type;   brachyolmia type 4 with mild epiphyseal and metaphyseal changes;   spondylodysplasia and premature pubarche
 primary_id: MESH:C567551
 alt_id: MESH:C567552;   MIM:612847

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spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955425:5,186,232...5,259,080
Ensembl chrNW_004955425:5,187,952...5,258,955 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Pathological Conditions, Signs and Symptoms 11318
      Pathologic Processes 7190
        Growth Disorders 962
          spondyloepimetaphyseal dysplasia, Pakistani type 1
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14030
      Skin and Connective Tissue Diseases 6632
        connective tissue disease 5061
          bone disease 3681
            bone development disease 2225
              osteochondrodysplasia 849
                spondyloepimetaphyseal dysplasia 83
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
paths to the root