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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.


show annotations for term's descendants           Sort by:
 
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 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		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 chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763 		JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698 		JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:200,399,800...200,863,406
Ensembl chr 1:205,405,249...205,868,182 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950 		JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:132,935,602...132,960,346
Ensembl chr 1:136,728,473...136,752,838 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:57,092,270...57,096,828
Ensembl chr11:60,455,474...60,456,616 		JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:67,237,476...67,239,545 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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363 		JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2A:30,923,029...31,150,626
Ensembl chr2A:30,995,180...31,221,784 		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 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909 		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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:68,265,125...68,294,738
Ensembl chr17:73,823,342...73,852,266 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:47,305,561...47,310,809
Ensembl chr20:48,432,519...48,433,901 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:111,670,110...111,684,979
Ensembl chr 1:110,833,438...110,847,780 		JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:27,593,787...27,700,801
Ensembl chr17:28,116,279...28,208,301 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		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 NCBI chr2B:38,796,991...39,038,824 JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971 		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 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		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 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:56,153,965...56,169,821
Ensembl chr11:59,595,120...59,607,828 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667 		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 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		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 chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986 		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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494 		JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:75,065,755...75,076,662
Ensembl chr14:94,398,596...94,408,909 		JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:76,571,312...76,575,820 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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		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 chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671 		JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:130,555,572...130,661,267
Ensembl chr 7:143,045,251...143,127,415 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504 		JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:3,771,623...3,806,575
Ensembl chr16:4,942,191...4,970,986 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612 		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 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		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 7:92,877,655...92,891,957
Ensembl chr 7:106,274,404...106,288,392 		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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900 		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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032 		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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994 		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 chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064 		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 chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864 		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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14521
    disease of anatomical entity 14240
      hematopoietic system disease 2526
        fetal erythroblastosis 62
          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 14521
    disease of anatomical entity 14240
      Hemic and Lymphatic Diseases 2931
        hematopoietic system disease 2526
          anemia 604
            normocytic anemia 210
              hemolytic anemia 210
                congenital hemolytic anemia 165
                  hemoglobinopathy 125
                    thalassemia 95
                      alpha thalassemia 65
                        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