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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;   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.


show annotations for term's descendants           Sort by:
 
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 chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:27825928 PMID:28492532 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar PMID:11200992 PMID:21651393 PMID:22464250 PMID:22464252 PMID:23043190 PMID:23425300 PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance
ClinVar Annotator: match by OMIM:101800
OMIM
ClinVar
PMID:11200992 PMID:21651393 PMID:22464250 PMID:22464252 PMID:23043190 PMID:23425300 PMID:25741868 PMID:28051113 PMID:28166811 PMID:28492532 PMID:29264456 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 2:39,980,796...40,069,982
Ensembl chr 2:40,000,313...40,069,975
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2, with or without hormone resistance
ClinVar Annotator: match by OMIM:614613
OMIM
ClinVar
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25741868 PMID:28492532 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      bone development disease 1326
        dysostosis 340
          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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    acrodysostosis 4
                      Acrodysostosis 1, with or without Hormone Resistance 2
                      Acrodysostosis 2, with or without Hormone Resistance 2
paths to the root