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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



show annotations for term's descendants           Sort by:
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 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 19072
    syndrome 11111
      multiple synostoses syndrome 4
        multiple synostoses syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      nervous system disease 14222
        Neurologic Manifestations 10288
          sensory system disease 7197
            Otorhinolaryngologic Diseases 1781
              auditory system disease 1040
                Hearing Disorders 829
                  Hearing Loss 824
                    Deafness 374
                      multiple synostoses syndrome 1 3
paths to the root