Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | | | | 58 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | . | | | 89 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CALCRL CL E G H | 10203 | 16709 | OMIM:618773 | LYMPHATIC MALFORMATION 8; LMPHM8 | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | | | | 373 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | | | | 243 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | . | | | 284 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 6 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040282 - Frequent | | | 233 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040282 - Frequent | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | . | | | 80 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040282 - Frequent | | | 54 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 5 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 200 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 88 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | HP:0040283 - Occasional | | | 24 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | KIF20A CL E G H | 10112 | 9787 | OMIM:619433 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | NSF CL E G H | 4905 | 8016 | OMIM:619340 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040282 - Frequent | | | 51 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | . | | | 4 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040282 - Frequent | | | 58 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | . | | | 58 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 88 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | | | | 7 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | . | | | 2 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0001789 | HP:0001789 | Hydrops fetalis | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040283 - Occasional | | | 13 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | CALCRL CL E G H | 10203 | 16709 | OMIM:618773 | LYMPHATIC MALFORMATION 8; LMPHM8 | | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 29 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | . | | | 36 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | HP:0040283 - Occasional | | | 51 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040282 - Frequent | | | 31 | | |
HP:0001789 | HP:0001790 | Nonimmune hydrops fetalis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 41 | | |