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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, brachycephaly 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;   MIM:PS277600;   NCI:C85226;   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 DNA:SNP:cd: p.G661R (mouse)
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive | ClinVar Annotator: match by term: Weill-Marchesani syndrome		 RGD
ClinVar		 PMID:19836009 PMID:25741868 PMID:28492532 PMID:32537296 PMID:34424262 RGD:243065144 NCBI chr 2:70,734,234...70,751,205
Ensembl chr 2:70,730,172...70,751,837 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 MouseDO NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Mesodermal dysmorphodystrophy congenital | ClinVar Annotator: match by term: Weill-Marchesani syndrome ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19656777 PMID:22924778 PMID:23218701 More... NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:15223607 RGD:9150949 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		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: ADAMTS10-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 OMIM
ClinVar		 PMID:15368195 PMID:16199547 PMID:18567016 PMID:19836009 PMID:25741868 More... NCBI chr 2:70,734,234...70,751,205
Ensembl chr 2:70,730,172...70,751,837 		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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		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:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22539340 PMID:23401661 PMID:25741868 More... NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		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: ADAMTS17-related condition | ClinVar Annotator: match by term: ADAMTS17-related disorder | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19836009 PMID:22486325 PMID:24940034 More... NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    syndrome 10449
      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 15436
    disease of anatomical entity 15105
      Skin and Connective Tissue Diseases 7054
        connective tissue disease 5380
          bone disease 3877
            bone development disease 2327
              Dwarfism 856
                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