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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:newborn respiratory distress syndrome
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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 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 Cat catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISS OMIM:267450 MouseDO NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:267450 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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, PMID:18353230 RGD:4143416, RGD:4143455, RGD:4143433, RGD:4143428, RGD:4143418, RGD:4143376 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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 chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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 chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:267450 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:23911641, PMID:23379327, PMID:18788921, PMID:26839702 RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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 ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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
PMID:234316, PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15248100, PMID:15503272, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24088041, PMID:24388491, PMID:24922459, PMID:25326635, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26298607, PMID:26392352, PMID:26467025, PMID:26709713, PMID:26922252, PMID:27450922, PMID:28065684, PMID:28202949, PMID:28251916, PMID:28397221, PMID:28492532, PMID:28902413, PMID:29858556, PMID:30311386, PMID:30598237, PMID:32488064, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266, PMID:25741868 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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:7752132, PMID:7849719, PMID:7874117, PMID:7981752, PMID:8325895, PMID:9066888, PMID:9101290, PMID:9468540, PMID:10406661, PMID:11297324, PMID:12995812, PMID:23188137, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 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 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        lung disease 1643
          newborn respiratory distress syndrome 23
            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 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        lower respiratory tract disease 1684
          lung disease 1643
            respiratory failure 186
              newborn respiratory distress syndrome 23
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.