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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:Pathologic Constriction
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Accession:DOID:9001627 term browser browse the term
Definition:The condition of an anatomical structure's being constricted beyond normal dimensions.
Synonyms:exact_synonym: Pathologic Constrictions;   Stenoses;   Stenosis;   Stricture;   pathological constriction;   strictures
 primary_id: MESH:D003251
 alt_id: RDO:0000691
For additional species annotation, visit the Alliance of Genome Resources.


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Pathologic Constriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 IDA RGD PMID:20022212 RGD:4145296 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:polymorphism:exon RGD PMID:9315527 RGD:5128501 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility ISO RGD PMID:16159601 RGD:1582642 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein IEP mRNA, protein:increased expression, alternative form:sciatic nerve RGD PMID:20202870 RGD:5131967 NCBI chr13:88,653,123...88,943,976 JBrowse link
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Laryngotracheal stenosis, progressive, with short stature and arthropathy ClinVar PMID:8898652, PMID:9679244, PMID:9811934, PMID:10479724, PMID:10764709, PMID:10775259, PMID:10790223, PMID:10797267, PMID:11274206, PMID:12821112, PMID:14715079, PMID:15014009, PMID:15031030, PMID:15235019, PMID:15288293, PMID:16436638, PMID:16613914, PMID:17873119, PMID:17994767, PMID:20101697, PMID:21835029, PMID:22331366, PMID:22703879, PMID:22875147, PMID:23399955, PMID:24465802, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25589618, PMID:25637381, PMID:25695693, PMID:25741868, PMID:25980754, PMID:26467025, PMID:26619011, PMID:27146957, PMID:27153395, PMID:27443514, PMID:27595937, PMID:27613157, PMID:27978560, PMID:28135145, PMID:28196074, PMID:28492532, PMID:28726808, PMID:28873162, PMID:30842500 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Anatomical Pathological Conditions 1525
        Pathologic Constriction 5
          Calabro Syndrome 0
          Congenital Tracheobronchial Stenosis 0
          Infundibulopelvic Dysgenesis 0
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 1
          Lumbar Stenosis, Familial 0
          Pseudoainhum 0
          Tracheal Agenesis 0
          Urethral Obstruction Sequence 0
          median arcuate ligament syndrome 0
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.