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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:geleophysic dysplasia 2
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Accession:DOID:0111726 term browser browse the term
Definition:A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: GPHYSD2
 primary_id: OMIM:614185
For additional species annotation, visit the Alliance of Genome Resources.


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geleophysic dysplasia 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 OMIM:614185
ClinVar Annotator: match by term: Geleophysic dysplasia 2
OMIM
ClinVar
PMID:1852206 PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10633129 PMID:11068200 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 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:17576681 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:21683322 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:25142510 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26272055 PMID:26333736 PMID:26380986 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27930701 PMID:27935852 PMID:28050602 PMID:28098115 PMID:28166811 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31053375 PMID:31163209 PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Pathologic Processes 6668
        Growth Disorders 778
          geleophysic dysplasia 3
            geleophysic dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              osteochondrodysplasia 474
                acromicric dysplasia 5
                  geleophysic dysplasia 3
                    geleophysic dysplasia 2 1
paths to the root