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:newborn respiratory distress syndrome
go back to main search page
Accession:DOID:12716 term browser browse the term
Definition:A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
Synonyms:exact_synonym: HMD - Hyaline membrane disease;   NEONATAL RESPIRATORY DISTRESS;   Neonatal Respiratory Distress Syndrome;   infantile respiratory distress syndrome;   pulmonary hyaline membrane disease;   pulmonary hypoperfusion syndrome of newborn;   respiratory distress syndrome of newborn;   respiratory distress syndrome, infant
 primary_id: MESH:D012127
 alt_id: OMIA:000101;   RDO:0002596
 xref: ICD10CM:P22.0
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
newborn respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anln anillin, actin binding protein ISO Respiratory distress syndrome OMIA PMID:7674217 PMID:19628215 PMID:28222102 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cat catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 PMID:29068549 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISS OMIM:267450 MouseDO NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP
protein:increased expression:lung (mouse)
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD PMID:20888423 PMID:19837405 RGD:4145440, RGD:4145493 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:267450 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO
IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:increased expression:lung
RGD PMID:11063734 PMID:11504697 RGD:4143433, RGD:4143428 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpb surfactant protein B susceptibility ISO
IEP
DNA:polymorphism:intron (human)
DNA:polymorphism: :p.T131I (human)
mRNA, protein:decreased expression:lung
RGD PMID:12490037 PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 More... RGD:4143416, RGD:4143455, RGD:4143433, RGD:4143428, RGD:4143418, RGD:4143376 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C IEP
ISO
mRNA, protein:decreased expression:lung
protein:altered processing:amniotic fluid, lung
RGD PMID:11504697 PMID:7537464 RGD:4143428, RGD:4144127 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Sftpd surfactant protein D susceptibility ISO
IEP
DNA:SNP: :p.A160T (human)
protein:increased expression:lung
RGD PMID:17524024 PMID:11504697 RGD:4143507, RGD:4143428 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:267450 MouseDO NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
ClinVar Annotator: match by OMIM:610978
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
OMIM
ClinVar
RGD
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar
PMID:8418638 PMID:25741868 PMID:27738187 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
distal spinal muscular atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320
ClinVar
OMIM
RGD
PMID:234316 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 More... RGD:737748 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers 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 Qualifiers 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
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers 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:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 More... NCBI chr 5:149,677,437...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 17289
    disease of anatomical entity 16625
      respiratory system disease 2907
        Respiration Disorders 290
          respiratory failure 198
            newborn respiratory distress syndrome 28
              Brain-Lung-Thyroid Syndrome 1
              CHITAYAT SYNDROME 1
              Hyaline Membrane Disease + 6
              RDS - Infants 0
              Transient Tachypnea of the Newborn 0
              distal spinal muscular atrophy 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      respiratory system disease 2907
        lower respiratory tract disease 1796
          lung disease 1753
            respiratory failure 198
              newborn respiratory distress syndrome 28
                Brain-Lung-Thyroid Syndrome 1
                CHITAYAT SYNDROME 1
                Hyaline Membrane Disease + 6
                RDS - Infants 0
                Transient Tachypnea of the Newborn 0
                distal spinal muscular atrophy 1 1
paths to the root