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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: EFO:0009051;   NCI:C84767


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 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALB albumin disease_progression IEP RGD PMID:17195148 RGD:11036098 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G C1orf105 chromosome 1 open reading frame 105 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr 1:172,420,685...172,468,829
Ensembl chr 1:172,420,685...172,468,831 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CTSA cathepsin A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DNAH14 dynein axonemal heavy chain 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:224,929,654...225,399,286
Ensembl chr 1:224,896,262...225,399,292 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G FCRL4 Fc receptor like 4 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741914 NCBI chr 1:157,573,747...157,598,085
Ensembl chr 1:157,573,747...157,598,085 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:61,792,911...61,797,238
Ensembl chr11:61,792,911...61,797,238 		JBrowse link
G FOXC2 forkhead box C2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:25741914 PMID:26036949 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:30,886,782...31,138,440
Ensembl chr 2:30,910,467...31,155,202 		JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr16:88,731,180...88,741,425 JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KIF19 kinesin family member 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:74,326,226...74,355,820
Ensembl chr17:74,326,210...74,355,820 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC126805881 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:157556896-157558095 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741914 NCBI chr 1:157,587,106...157,588,305 JBrowse link
G LOC126860055 MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:65,967,203...65,968,940 JBrowse link
G LOC126862505 BRD4-independent group 4 enhancer GRCh37_chr17:11572478-11573677 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr17:11,668,892...11,670,360 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal edema
ClinVar Annotator: match by term: Hydrops fetalis		 ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:50,958,818...50,963,929
Ensembl chr20:50,958,818...50,963,929 		JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011 		JBrowse link
G MYO18A myosin XVIIIA IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:29,071,122...29,180,398
Ensembl chr17:29,071,122...29,180,398 		JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:25741916 PMID:26036949 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEU1 neuraminidase 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Hydrops fetalis		 ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,890,547...60,906,585
Ensembl chr11:60,890,547...60,906,585 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema		 ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800 		JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G SVOPL SVOP like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:138,594,285...138,701,362
Ensembl chr 7:138,594,285...138,701,362 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741915 PMID:26036949 PMID:28749478 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G UBN1 ubinuclein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,847,481...4,882,401
Ensembl chr16:4,846,665...4,882,401 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		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 IAGP
EXP		 ClinVar Annotator: match by term: Lymphatic malformation 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:27400125 PMID:28687708 PMID:29905864 PMID:30578106 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MDFIC MyoD family inhibitor domain containing ISS
IAGP		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH		 ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LOC130059751 ATAC-STARR-seq lymphoblastoid silent region 7872 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,737,356...88,737,575 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP
EXP		 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 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		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 IAGP
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDFIC MyoD family inhibitor domain containing IAGP ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460 		JBrowse link
G CALCRL-AS1 CALCRL and TFPI antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 ClinVar PMID:25741868 NCBI chr 2:187,003,273...187,547,525
Ensembl chr 2:187,003,220...187,556,288 		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 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Edema 150
          Hydrops Fetalis 69
            Greenberg dysplasia 1
            HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
            Lymphatic Malformation 12 1
            Lymphatic Malformation 13 1
            Lymphatic Malformation 8 2
            Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
            Nuchal Bleb, Familial 3
            central conducting lymphatic anomaly 4
            dehydrated hereditary stomatocytosis 1 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          anemia 1303
            normocytic anemia 722
              hemolytic anemia 722
                congenital hemolytic anemia 633
                  hemoglobinopathy 483
                    thalassemia 449
                      alpha thalassemia 94
                        Hydrops Fetalis 69
                          Greenberg dysplasia 1
                          HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
                          Lymphatic Malformation 12 1
                          Lymphatic Malformation 13 1
                          Lymphatic Malformation 8 2
                          Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
                          Nuchal Bleb, Familial 3
                          central conducting lymphatic anomaly 4
                          dehydrated hereditary stomatocytosis 1 4
paths to the root