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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   asphyxia neonatorum
  

Disease ID 1081
Disease asphyxia neonatorum
Definition
Respiratory failure in the newborn. (Dorland, 27th ed)
Synonym
asphyxia - birth
asphyxia birth
asphyxia neonatal
asphyxia neonatorum [disease/finding]
asphyxia newborn
asphyxia newborns
asphyxia nos in liveborn infant
asphyxia, in liveborn infant
asphyxia, in liveborn infant (disorder)
asphyxia, nos, in liveborn infant
asphyxia, nos,in liveborn infant
birth asphyxia
birth asphyxia (disorder)
birth asphyxia nos
fetal asphyxia
intrapartum asphyxia
intrapartum fetal asphyxia
intrapartum foetal asphyxia
liveborn with birth asphyxia nos
liveborn with birth asphyxia nos (disorder)
neonatal asphyxia
neonatal asphyxia, nos
newborn asphyxia
postnatal asphyxia
unspecified severity of birth asphyxia in liveborn infant
DOID
UMLS
C0004045
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C0007789  |  cerebral palsy  |  5
C0022116  |  ischemia  |  1
C0020459  |  hyperinsulinism  |  1
C0032914  |  preeclampsia  |  1
C0040034  |  thrombocytopenia  |  1
C0003467  |  anxiety  |  1
C0020538  |  hypertensive disease  |  1
C0022116  |  ischaemia  |  1
C0151744  |  myocardial ischaemia  |  1
C1704437  |  respiratory distress syndrome  |  1
C0032285  |  pneumonia  |  1
C0080178  |  spina bifida  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:6)
5663  |  PSEN1  |  CTD_human
5664  |  PSEN2  |  CTD_human
6647  |  SOD1  |  CTD_human
6648  |  SOD2  |  CTD_human
847  |  CAT  |  CTD_human
5743  |  PTGS2  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
2944  |  GSTM1  |  CIPHER
2952  |  GSTT1  |  CIPHER
5743  |  PTGS2  |  CTD_human
5663  |  PSEN1  |  CTD_human
5664  |  PSEN2  |  CTD_human
6647  |  SOD1  |  CTD_human
6648  |  SOD2  |  CTD_human
847  |  CAT  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:47)
6833  |  ABCC8  |  2.582  |  DISEASES
55811  |  ADCY10  |  1.09  |  DISEASES
273  |  AMPH  |  1.501  |  DISEASES
336  |  APOA2  |  1.053  |  DISEASES
406  |  ARNTL  |  1.337  |  DISEASES
567  |  B2M  |  1.672  |  DISEASES
548596  |  CKMT1A  |  1.931  |  DISEASES
1791  |  DNTT  |  1.032  |  DISEASES
83658  |  DYNLRB1  |  2.152  |  DISEASES
124454  |  EARS2  |  2.132  |  DISEASES
2068  |  ERCC2  |  1.109  |  DISEASES
2316  |  FLNA  |  1.594  |  DISEASES
2593  |  GAMT  |  1.995  |  DISEASES
2628  |  GATM  |  1.713  |  DISEASES
2707  |  GJB3  |  1.771  |  DISEASES
2821  |  GPI  |  1.681  |  DISEASES
2875  |  GPT  |  2.044  |  DISEASES
84706  |  GPT2  |  2.27  |  DISEASES
3748  |  KCNC3  |  2.384  |  DISEASES
3767  |  KCNJ11  |  1.827  |  DISEASES
55818  |  KDM3A  |  2.266  |  DISEASES
3814  |  KISS1  |  1.354  |  DISEASES
8564  |  KMO  |  2.158  |  DISEASES
9211  |  LGI1  |  1.278  |  DISEASES
4151  |  MB  |  2.232  |  DISEASES
4155  |  MBP  |  1.001  |  DISEASES
8972  |  MGAM  |  2.315  |  DISEASES
10724  |  MGEA5  |  2.389  |  DISEASES
83881  |  MIXL1  |  1.749  |  DISEASES
4514  |  MT-CO3  |  1.44  |  DISEASES
4534  |  MTM1  |  2.398  |  DISEASES
9241  |  NOG  |  1.118  |  DISEASES
115209  |  OMA1  |  2.376  |  DISEASES
9124  |  PDLIM1  |  1.614  |  DISEASES
5236  |  PGM1  |  1.557  |  DISEASES
51750  |  RTEL1  |  1.629  |  DISEASES
6261  |  RYR1  |  1.253  |  DISEASES
6439  |  SFTPB  |  1.427  |  DISEASES
6566  |  SLC16A1  |  2.57  |  DISEASES
6709  |  SPTAN1  |  1.749  |  DISEASES
63892  |  THADA  |  2.261  |  DISEASES
7137  |  TNNI3  |  1.368  |  DISEASES
7139  |  TNNT2  |  2.13  |  DISEASES
7156  |  TOP3A  |  1.659  |  DISEASES
7273  |  TTN  |  2.92  |  DISEASES
81030  |  ZBP1  |  2.159  |  DISEASES
100128252  |  ZNF667-AS1  |  2.276  |  DISEASES
Locus(Waiting for update.)
Disease ID 1081
Disease asphyxia neonatorum
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:22)
HP:0001298  |  Encephalopathy  |  7
HP:0100021  |  Cerebral palsy  |  5
HP:0001941  |  acidemia  |  3
HP:0002045  |  Abnormally low body temperature  |  2
HP:0001511  |  Prenatal onset growth retardation  |  2
HP:0001250  |  Seizures  |  2
HP:0001919  |  Acute renal failure  |  1
HP:0001945  |  Fever  |  1
HP:0001622  |  Premature delivery  |  1
HP:0100602  |  Pre-eclampsia  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0002414  |  Spina bifida  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0000739  |  Anxiety  |  1
HP:0011418  |  Abnormal insertion of umbilical cord  |  1
HP:0001631  |  Atria septal defect  |  1
HP:0001285  |  Spastic tetraparesis  |  1
HP:0001518  |  Small for gestational age  |  1
HP:0001873  |  Low platelet count  |  1
HP:0002090  |  Pneumonia  |  1
HP:0002273  |  Tetraparesis  |  1
HP:0003287  |  Abnormality of mitochondrial metabolism  |  1
Disease ID 1081
Disease asphyxia neonatorum
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C0270790  |  tetraparesis
C0151744  |  myocardial ischaemia
C0022672  |  lower nephron nephrosis
C0020615  |  hypoglycemia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0007789  |  cerebral palsy  |  3
C0752304  |  hypoxic-ischemic encephalopathy  |  2
C0235820  |  neonatal encephalopathy  |  1
C0270790  |  tetraparesis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1081
Disease asphyxia neonatorum
Case(Waiting for update.)