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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: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;   acrodysplasia;   nasal hypoplasia-peripheral dysostosis-mental retardation syndrome;   peripheral dysostosis;   peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
 primary_id: MESH:C538179
 alt_id: OMIM:170700
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:28492532 NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Pde4d phosphodiesterase 4D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
OMIM:101800 | OMIM:614613		 CTD
ClinVar
MouseDO		 PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance OMIM
ClinVar		 PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 2:39,891,163...39,963,779
Ensembl chr 2:39,891,481...39,963,779 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition OMIM
ClinVar		 PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More... NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        dysostosis 578
          acrodysostosis 4
            Acrodysostosis 1, with or without Hormone Resistance 1
            Acrodysostosis 2, with or without Hormone Resistance 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    acrodysostosis 4
                      Acrodysostosis 1, with or without Hormone Resistance 1
                      Acrodysostosis 2, with or without Hormone Resistance 2
paths to the root