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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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:612847
ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: SPONDYLODYSPLASIA AND PREMATURE PUBARCHE 		OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chr 1:239,867,597...239,952,614
Ensembl chr 1:239,867,574...239,952,616 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Growth Disorders 1032
          spondyloepimetaphyseal dysplasia, Pakistani type 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                spondyloepimetaphyseal dysplasia 89
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
paths to the root