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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:Marfanoid Hypermobility Syndrome
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Accession:DOID:9004097 term browser browse the term
Synonyms:exact_synonym: Marfan syndrome type 1
 primary_id: MESH:C531742
 alt_id: OMIM:154750
For additional species annotation, visit the Alliance of Genome Resources.


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Marfanoid Hypermobility Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1
ClinVar Annotator: match by term: Marfanoid hypermobility syndrome
ClinVar PMID:952872, PMID:1301946, PMID:1569206, PMID:1729284, PMID:1765782, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7738200, PMID:7762551, PMID:7802039, PMID:7870075, PMID:7896820, PMID:7911051, PMID:8004112, PMID:8040326, PMID:8071963, PMID:8136837, PMID:8281141, PMID:8406497, PMID:8430317, PMID:8504310, PMID:8541880, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8791520, PMID:8880577, PMID:8882780, PMID:8894692, PMID:8941093, PMID:8988160, PMID:9101298, PMID:9150726, PMID:9241263, PMID:9338581, PMID:9338588, PMID:9362480, PMID:9399842, PMID:9401003, PMID:9452085, PMID:9525872, PMID:9817919, PMID:9837823, PMID:9876915, PMID:10189222, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10633129, PMID:10647894, PMID:10679954, PMID:10694921, PMID:10721679, PMID:10756346, PMID:10766875, PMID:10874320, PMID:10930463, PMID:11059536, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11175294, PMID:11278305, PMID:11391655, PMID:11524736, PMID:11700157, PMID:11722462, PMID:11748851, PMID:11826022, PMID:11829507, PMID:11875032, PMID:11933199, PMID:11967553, PMID:11992479, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15598221, PMID:15733436, PMID:15821637, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16571647, PMID:16596670, PMID:16677079, PMID:16756980, PMID:16765689, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17242066, PMID:17253931, PMID:17324963, PMID:17418587, PMID:17449467, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:17726045, PMID:17850668, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19059503, PMID:19089573, PMID:19117906, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19353630, PMID:19370756, PMID:19390640, PMID:19396033, PMID:19533785, PMID:19561590, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19780835, PMID:19802897, 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:21784848, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22005308, PMID:22140025, PMID:22262941, PMID:22539873, PMID:22736615, PMID:22772377, PMID:22950452, PMID:23133647, PMID:23278365, PMID:23505274, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24035709, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24311428, PMID:24564502, PMID:24635535, PMID:24665001, PMID:24740214, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25320358, PMID:25326635, PMID:25504618, PMID:25519456, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25834947, PMID:25839328, PMID:25852444, PMID:25863307, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26017485, PMID:26026792, PMID:26133393, PMID:26188975, PMID:26214305, PMID:26269718, PMID:26272055, PMID:26332594, PMID:26333736, PMID:26410935, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26787436, PMID:26796135, PMID:26875674, PMID:27011056, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27160103, PMID:27175573, PMID:27229674, PMID:27234404, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27647783, PMID:27724990, PMID:27906200, PMID:27914124, PMID:27930701, PMID:28027854, PMID:28050602, PMID:28087566, PMID:28098115, PMID:28117189, PMID:28254189, PMID:28301460, PMID:28387797, PMID:28492532, PMID:28497567, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28855619, PMID:28941062, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29768367, PMID:29848614, PMID:29907982, PMID:30255099, PMID:30311386, PMID:30653986, PMID:30675029, PMID:30739908, PMID:31008308, PMID:31098894, PMID:31163209, PMID:31211626, PMID:31227806 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:16596670, PMID:16791849, PMID:16928994, PMID:18781618, PMID:21267002, PMID:22414221, PMID:23884466, PMID:25521989, PMID:25741868, PMID:25944730, PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Marfan syndrome type 1 ClinVar PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:11212236, PMID:12825850, PMID:16249459, PMID:16251899, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17935258, PMID:18781618, PMID:19006214, PMID:19875893, PMID:21251594, PMID:21524434, PMID:24033266, PMID:24055113, PMID:24793577, PMID:24941995, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27930701, PMID:28492532, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Marfanoid Hypermobility Syndrome 8
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Marfan syndrome 209
                Marfanoid Hypermobility Syndrome 8
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.