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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;   OMIM: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 chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
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 ClinVar Annotator: match by term: Kniest dysplasia OMIM
ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
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:17576681 PMID:24088041 PMID:24781210 More... NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280
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:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955452:2,031,868...2,057,264 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13804
      respiratory system disease 3077
        Respiration Disorders 411
          respiratory failure 326
            newborn respiratory distress syndrome 180
              Hyaline Membrane Disease 5
                Kniest Like Dysplasia Lethal 2
                Kniest dysplasia 1
                Rambaud Galian Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13804
      respiratory system disease 3077
        lower respiratory tract disease 1976
          lung disease 1941
            respiratory failure 326
              newborn respiratory distress syndrome 180
                Hyaline Membrane Disease 5
                  Kniest Like Dysplasia Lethal 2
                  Kniest dysplasia 1
                  Rambaud Galian Syndrome 0
paths to the root