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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:Hydrops Fetalis
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Accession:DOID:9008386 term browser browse the term
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.
Synonyms:exact_synonym: Fetal Hydrops;   Hydrops Fetalis Nonimmune;   Idiopathic Hydrops Fetali;   Idiopathic Hydrops Fetalis;   Immune Hydrops Fetalis;   NIHF;   familial non immune hydrops fetalis;   fetal edema;   non-immune hydrops fetalis;   nonimmune hydrops fetali
 narrow_synonym: HEMOGLOBIN H HYDROPS FETALIS SYNDROME;   HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED
 primary_id: MESH:D015160
 alt_id: OMIM:236750
 xref: NCI:C84767
For additional species annotation, visit the Alliance of Genome Resources.



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Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:40,644,899...40,670,549
Ensembl chr 7:40,644,234...40,678,326
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 9:6,052,837...6,079,409
Ensembl chr 9:6,052,840...6,079,295
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr24:37,268,781...37,271,581
Ensembl chr24:37,268,808...37,270,304
JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:42,523,529...42,537,012
Ensembl chr 6:42,523,769...42,535,728
JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 8:63,436,710...63,453,354
Ensembl chr 8:63,323,933...63,453,708
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076
JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:9,949,845...10,023,997
Ensembl chr16:9,963,536...10,024,502
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:8,898,536...8,908,057
Ensembl chr 6:8,898,520...8,907,997
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      hematopoietic system disease 2518
        fetal erythroblastosis 61
          Hydrops Fetalis 58
            Greenberg dysplasia 1
            HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
            Lymphatic Malformation 8 1
            Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
            Nuchal Bleb, Familial 3
            central conducting lymphatic anomaly 2
            dehydrated hereditary stomatocytosis 1 2
Path 2
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      Hemic and Lymphatic Diseases 2932
        hematopoietic system disease 2518
          anemia 609
            normocytic anemia 208
              hemolytic anemia 208
                congenital hemolytic anemia 165
                  hemoglobinopathy 123
                    thalassemia 94
                      alpha thalassemia 67
                        Hydrops Fetalis 58
                          Greenberg dysplasia 1
                          HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
                          Lymphatic Malformation 8 1
                          Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
                          Nuchal Bleb, Familial 3
                          central conducting lymphatic anomaly 2
                          dehydrated hereditary stomatocytosis 1 2
paths to the root