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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:distal arthrogryposis type 7
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Accession:DOID:0111603 term browser browse the term
Definition:A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA7;   Dutch-Kentucky syndrome;   Hecht Syndrome;   Hecht-Beals syndrome;   inability to completely open mouth and short finger-flexor tendons;   trismus-pseudocamptodactyly;   trismus-pseudocamptodactyly syndrome
 primary_id: MESH:C535857
 alt_id: OMIM:158300
 xref: GARD:2621;   ORDO:3377
For additional species annotation, visit the Alliance of Genome Resources.



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distal arthrogryposis type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
ClinVar Annotator: match by OMIM:158300
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
OMIM
ClinVar
RGD
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      distal arthrogryposis type 7 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  distal arthrogryposis 38
                    distal arthrogryposis type 7 2
paths to the root