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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:Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
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
For additional species annotation, visit the Alliance of Genome Resources.


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Weill-Marchesani syndrome term browser
Symbol Object Name 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19836009, PMID:25741868, PMID:28492532 NCBI chr 7:18,409,147...18,439,012
Ensembl chr 7:18,409,147...18,439,012
JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISS OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 MouseDO NCBI chr 1:127,802,872...128,126,764
Ensembl chr 1:127,802,978...128,124,171
JBrowse link
G Fbn1 fibrillin 1 ISO DNA:deletion
ClinVar Annotator: match by term: SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
ClinVar Annotator: match by term: Weill-Marchesani syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar
CTD
PMID:2005308, PMID:3536967, PMID:4750422, PMID:7738200, PMID:7802039, PMID:7870075, PMID:8281141, PMID:8430317, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8941093, PMID:8988160, PMID:9150726, PMID:9338581, PMID:9338588, PMID:9399842, PMID:9401003, PMID:9817919, PMID:9837823, PMID:9876915, PMID:10189222, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10679954, PMID:10694921, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11875032, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12525539, PMID:12651868, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15598221, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16835936, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19059503, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19370756, PMID:19396033, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23133647, PMID:23278365, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23719250, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24311428, PMID:24564502, PMID:24635535, PMID:24665001, PMID:24740214, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25326635, PMID:25504618, PMID:25519456, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, PMID:26188975, PMID:26272055, PMID:26332594, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26787436, PMID:26875674, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28254189, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31008308, PMID:31163209, PMID:31211626, PMID:31227806, PMID:12525539 RGD:1601144 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19656777, PMID:23218701, PMID:23378721, PMID:23401661, PMID:25741868, PMID:26425313, PMID:27293371, PMID:28492532, PMID:30311386 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:15223607 RGD:9150949 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Weill-Marchesani Syndrome 1 term browser
Symbol Object Name 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 ClinVar
OMIM
PMID:15368195, PMID:18567016, PMID:19836009, PMID:25741868, PMID:28492532 NCBI chr 7:18,409,147...18,439,012
Ensembl chr 7:18,409,147...18,439,012
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 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar
OMIM
PMID:2005308, PMID:4750422, PMID:7802039, PMID:7870075, PMID:8653794, PMID:8723076, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12203987, PMID:12203992, PMID:12446365, PMID:12525539, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20375004, PMID:20564469, PMID:21542060, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23506379, PMID:23577066, PMID:23608731, PMID:23719250, PMID:23794388, PMID:24033266, PMID:24161884, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25326635, PMID:25504618, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:26272055, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26787436, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31163209, PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:614819
OMIM
ClinVar
PMID:22539340, PMID:23401661, PMID:25741868, PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
Weill-Marchesani Syndrome 4 term browser
Symbol Object Name 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 OMIM:613195
ClinVar Annotator: match by term: Weill-Marchesani-like syndrome
OMIM
ClinVar
PMID:19836009, PMID:22486325, PMID:24940034, PMID:25741868, PMID:28492532 NCBI chr 1:127,802,872...128,126,764
Ensembl chr 1:127,802,978...128,124,171
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      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 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              Dwarfism 494
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.