Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
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 chr12:19,601,272...19,611,657
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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:45,596,565...45,599,615
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 7:129,098,489...129,127,560
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:17576681 PMID:24088041 PMID:24781210 More... NCBI chr 5:149,677,437...149,778,594
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:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:149,778,795...149,788,335
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 21155
    disease of anatomical entity 18219
      respiratory system disease 3605
        Respiration Disorders 481
          respiratory failure 388
            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 21155
    disease of anatomical entity 18219
      respiratory system disease 3605
        lower respiratory tract disease 2295
          lung disease 2259
            respiratory failure 388
              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