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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   fetal edema
  

Disease ID 1441
Disease fetal edema
Definition
Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
Synonym
edema, fetal
fetal hydrops
fetalis hydrops
hf - hydrops fetalis
hf - hydrops foetalis
hydrops fetal
hydrops fetalis
hydrops fetalis (disorder)
hydrops fetalis [disease/finding]
hydrops fetalis, nos
hydrops foetalis
hydrops foetalis, nos
hydrops, fetal
Orphanet
DOID
UMLS
C0020305
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:24)
C0002871  |  anemia  |  6
C0018801  |  heart failure  |  3
C0677608  |  chorioangioma  |  3
C0677608  |  placental chorioangioma  |  3
C0039538  |  teratoma  |  3
C0039730  |  thalassemia  |  2
C0024291  |  hemophagocytic lymphohistiocytosis  |  2
C0027819  |  neuroblastoma  |  2
C0085273  |  parvovirus b19 infection  |  1
C0948201  |  alloimmunization  |  1
C0011981  |  diaphragmatic eventration  |  1
C0042769  |  virus infection  |  1
C0018802  |  congestive heart failure  |  1
C0041408  |  turner syndrome  |  1
C0020224  |  polyhydramnios  |  1
C0008370  |  cholestasis  |  1
C1704423  |  congenital lymphedema  |  1
C0041341  |  tuberous sclerosis  |  1
C0018801  |  cardiac failure  |  1
C0033687  |  proteinuria  |  1
C0035412  |  rhabdomyosarcoma  |  1
C0019618  |  histiocytosis  |  1
C0034063  |  pulmonary edema  |  1
C0024236  |  lymphedema  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
147372  |  CCBE1  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1441
Disease fetal edema
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:28)
HP:0001903  |  Anemia  |  6
HP:0001635  |  Congestive heart failure  |  4
HP:0000969  |  Dropsy  |  4
HP:0001649  |  Tachycardia  |  3
HP:0030736  |  Sacrococcygeal teratoma  |  3
HP:0009792  |  Teratoma  |  3
HP:0004755  |  Supraventricular tachycardia  |  3
HP:0002202  |  Pleural effusion  |  3
HP:0004756  |  Ventricular tachycardia  |  3
HP:0004749  |  Atrial flutter  |  2
HP:0009730  |  Rhabdomyoma  |  2
HP:0002664  |  Neoplasia  |  2
HP:0003006  |  Neuroblastoma  |  2
HP:0009729  |  Cardiac rhabdomyoma  |  2
HP:0100632  |  Pulmonary sequestration  |  1
HP:0030741  |  Teratoma of the mediastinum  |  1
HP:0001640  |  Increased heart size  |  1
HP:0003207  |  Arterial calcification  |  1
HP:0001541  |  Ascites  |  1
HP:0100598  |  Pulmonary oedema  |  1
HP:0001561  |  Hydramnios  |  1
HP:0100602  |  Pre-eclampsia  |  1
HP:0002859  |  Rhabdomyosarcoma  |  1
HP:0001396  |  Cholestasis  |  1
HP:0100727  |  Histiocytosis  |  1
HP:0000093  |  Proteinuria  |  1
HP:0009110  |  Diaphragmatic eventration  |  1
HP:0002089  |  Hypoplastic lungs  |  1
Disease ID 1441
Disease fetal edema
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0002871  |  anemia  |  4
C0039240  |  supraventricular tachycardia  |  2
C0677608  |  chorioangioma  |  2
C1839611  |  n syndrome  |  1
C0018801  |  heart failure  |  1
C2609079  |  mirror syndrome  |  1
C0032227  |  pleural effusions  |  1
C0015927  |  intrauterine death  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs36942893420852937191AHCYumls:C0020305BeFreeThis paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.0.0002714422010AHCY2034295469GA
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 1441
Disease fetal edema
Case(Waiting for update.)