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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:multiple synostoses syndrome 1
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Accession:DOID:0081317 term browser browse the term
Definition:A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN;   FACIOAUDIOSYMPHALANGISM SYNDROME;   SYMPHALANGISM-BRACHYDACTYLY SYNDROME;   SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY;   SYNS1;   WL SYNDROME
 alt_id: DOID:9007208
 xref: GARD:3836;   MIM:186500


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multiple synostoses syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Nog noggin ISO DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome		 OMIM
ClinVar
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      multiple synostoses syndrome 4
        multiple synostoses syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1052
                Hearing Disorders 840
                  Hearing Loss 835
                    Deafness 380
                      multiple synostoses syndrome 1 3
paths to the root