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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:anauxetic dysplasia 1
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Accession:DOID:0050640 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)
Synonyms:exact_synonym: ANXD;   ANXD1;   Spondylometaepiphyseal dysplasia, Anauxetic type;   Spondylometaepiphyseal dysplasia, Menger type
 primary_id: MESH:C538256
 alt_id: OMIM:607095
 xref: GARD:9657
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
anauxetic dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:73,270,403...73,298,209
Ensembl chr 7:73,270,455...73,298,239
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      endocrine system disease 4997
        Dwarfism 495
          Anauxetic Dysplasia 45
            anauxetic dysplasia 1 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                spondyloepimetaphyseal dysplasia 75
                  Anauxetic Dysplasia 45
                    anauxetic dysplasia 1 2
paths to the root