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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:Weill-Marchesani syndrome
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Accession:DOID:0050475 term browser browse the term
Definition:A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)
Synonyms:exact_synonym: Marchesani Syndrome;   Marchesani-Weill syndromes;   congenital mesodermal dysmorphodystrophies;   congenital mesodermal dysmorphodystrophy;   congenital mesodermal dystrophy;   spherophakia brachymorphia syndrome;   spherophakia brachymorphia syndromes
 narrow_synonym: Weill Marchesani syndrome, autosomal recessive
 primary_id: MESH:D056846
 xref: GARD:4936;   NCI:C85226;   OMIM:PS277600;   ORDO:3449


show annotations for term's descendants           Sort by:
Weill-Marchesani syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819
DNA:SNP:cd: p.G661R (mouse)
ClinVar Annotator: match by term: Weill-Marchesani syndrome		 CTD
MouseDO
ClinVar
RGD		 PMID:19836009 PMID:25741868 PMID:28492532 PMID:34424262 RGD:243065144 NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620 		JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISS OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 MouseDO NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Fbn1 fibrillin 1 ISO
ISS		 DNA:deletion
OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819
ClinVar Annotator: match by term: Weill-Marchesani syndrome
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:3536967 PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 More... RGD:1601144 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weill-Marchesani syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19656777 PMID:22924778 PMID:23218701 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:15223607 RGD:9150949 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Weill-Marchesani Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 OMIM
ClinVar		 PMID:15368195 PMID:18567016 PMID:19836009 PMID:25741868 PMID:28492532 NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:22539340 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:1852208 PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 3
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human)		 OMIM
ClinVar
RGD		 PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 PMID:22539340 RGD:243049250 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Weill-Marchesani Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:19836009 PMID:22486325 PMID:24940034 More... NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      Weill-Marchesani syndrome 5
        Weill-Marchesani Syndrome 1 2
        Weill-Marchesani Syndrome 2 1
        Weill-Marchesani Syndrome 3 1
        Weill-Marchesani Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Skin and Connective Tissue Diseases 7346
        connective tissue disease 5696
          bone disease 4210
            bone development disease 2248
              Dwarfism 831
                Weill-Marchesani syndrome 5
                  Weill-Marchesani Syndrome 1 2
                  Weill-Marchesani Syndrome 2 1
                  Weill-Marchesani Syndrome 3 1
                  Weill-Marchesani Syndrome 4 1
paths to the root