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Term:X-linked chondrodysplasia punctata 1
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Accession:DOID:0060292 term browser browse the term
Definition:A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity. (DO)
Synonyms:exact_synonym: Brachytelephalangic Chondrodysplasia Punctata;   CDPX1;   CPXR;   X-linked recessive chondrodysplasia punctata 1;   arylsulfatase E deficiency;   chondrodystrophia calcificans congenita
 related_synonym: Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
 primary_id: MESH:C580533
 alt_id: MESH:C535941;   OMIM:302950;   OMIM:602497
 xref: ICD10CM:Q77.3;   ORDO:35173
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X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:13592920
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    syndrome 5790
      chondrodysplasia punctata 7
        X-linked chondrodysplasia punctata 1 3
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      musculoskeletal system disease 5295
        connective tissue disease 3921
          bone disease 3432
            bone development disease 1244
              osteochondrodysplasia 415
                chondrodysplasia punctata 7
                  X-linked chondrodysplasia punctata 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.