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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 chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFTPA1 surfactant protein A1 IAGP ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266 PMID:25741868 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPC surfactant protein C IDA RGD PMID:9655740 RGD:4143444 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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 IAGP
EXP
ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:17576681 PMID:24088041 PMID:24781210 More... NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225
JBrowse link
G LOC126805655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,851,916...21,853,115 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      respiratory system disease 4124
        Respiration Disorders 559
          respiratory failure 432
            newborn respiratory distress syndrome 224
              Hyaline Membrane Disease 7
                Kniest Like Dysplasia Lethal 3
                Kniest dysplasia 1
                Rambaud Galian Syndrome 0
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      respiratory system disease 4124
        lower respiratory tract disease 2540
          lung disease 2496
            respiratory failure 432
              newborn respiratory distress syndrome 224
                Hyaline Membrane Disease 7
                  Kniest Like Dysplasia Lethal 3
                  Kniest dysplasia 1
                  Rambaud Galian Syndrome 0
paths to the root