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ONTOLOGY REPORT - ANNOTATIONS


Term:acrodysostosis
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Accession:DOID:14669 term browser browse the term
Definition:A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. (DO)
Synonyms:exact_synonym: Arkless-Graham syndrome;   Maroteaux-Malamut syndrome;   Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome;   Peripheral Dysostosis;   acrodysplasia;   peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
 primary_id: MESH:C538179
 alt_id: RDO:0004122
 xref: GARD:2015;   GARD:5724;   OMIM:PS101800;   ORDO:950
For additional species annotation, visit the Alliance of Genome Resources.


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acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
RGD:11554173
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Depdc1b DEP domain containing 1B JBrowse link 2 39,980,796 40,069,982 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        dysostosis 311
          acrodysostosis 4
            Acrodysostosis 1, with or without Hormone Resistance 2
            Acrodysostosis 2, with or without Hormone Resistance 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    acrodysostosis 4
                      Acrodysostosis 1, with or without Hormone Resistance 2
                      Acrodysostosis 2, with or without Hormone Resistance 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.