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Hyaline Membrane Disease - Ontology Report - Rat Genome Database

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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:Hyaline Membrane Disease
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Accession:DOID:9000613 term browser browse the term
Definition:A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS).
Synonyms:exact_synonym: Hyaline Membrane Diseases;   RDS of prematurity;   RESPIRATORY DISTRESS ASSOCIATED WITH PREMATURITY;   respiratory distress syndrome in premature infants
 primary_id: MESH:D006819
 alt_id: MESH:C566881;   MIM:267450;   RDO:0000286;   RDO:0015097

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Hyaline Membrane Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266 PMID:25741868 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kniest dysplasia		 OMIM
CTD
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        Respiration Disorders 485
          respiratory failure 391
            newborn respiratory distress syndrome 205
              Hyaline Membrane Disease 6
                Kniest Like Dysplasia Lethal 2
                Kniest dysplasia 1
                Rambaud Galian Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        lower respiratory tract disease 2360
          lung disease 2321
            respiratory failure 391
              newborn respiratory distress syndrome 205
                Hyaline Membrane Disease 6
                  Kniest Like Dysplasia Lethal 2
                  Kniest dysplasia 1
                  Rambaud Galian Syndrome 0
paths to the root