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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;   MESH:C567552
 alt_id: OMIM:612847;   RDO:0015600;   RDO:0015601
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM:612847
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type		 OMIM
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:17576681 PMID:19474428 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Growth Disorders 782
          spondyloepimetaphyseal dysplasia, Pakistani type 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                spondyloepimetaphyseal dysplasia 77
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
paths to the root