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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:acromesomelic dysplasia, Maroteaux type
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Accession:DOID:0080050 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (DO)
Synonyms:exact_synonym: AMDM;   St. Helena dysplasia;   acromesomelic dwarfism Maroteux type
 primary_id: MESH:C535661
 alt_id: OMIM:602875;   RDO:0000909
 xref: GARD:507;   ORDO:40
For additional species annotation, visit the Alliance of Genome Resources.


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acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
ClinVar Annotator: match by OMIM:602875
OMIM
ClinVar
PMID:15146390, PMID:16384845, PMID:23065701, PMID:25703509, PMID:25741868, PMID:27994189, PMID:28492532, PMID:30311386 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar PMID:15146390, PMID:25741868, PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        bone disease 3528
          spinal disease 1459
            acromesomelic dysplasia, Maroteaux type 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Maroteaux type 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.