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ONTOLOGY REPORT - ANNOTATIONS


Term:Kniest Like Dysplasia Lethal
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Accession:DOID:9005084 term browser browse the term
Synonyms:exact_synonym: Arthrosis, flat face, hypotonia, short neck and macrocephaly;   lethal Kniest-like syndrome
 primary_id: MESH:C537208
 alt_id: OMIM:245190;   RDO:0002997
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Kniest Like Dysplasia Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of cellular proliferation 5796
      Hereditary Neoplastic Syndromes 765
        hereditary multiple exostoses 7
          Kniest Like Dysplasia Lethal 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    Macrocephaly 53
                      Kniest Like Dysplasia Lethal 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.