Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ACE CL E G H | 1636 | 2707 | OMIM:267430 | Renal tubular dysgenesis | . | | | 113 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | AGT CL E G H | 183 | 333 | OMIM:267430 | Renal tubular dysgenesis | . | | | 48 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | AGTR1 CL E G H | 185 | 336 | OMIM:267430 | Renal tubular dysgenesis | . | | | 33 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040284 - Very rare | | | 22 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040282 - Frequent | | | 114 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | . | | | 1 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | HP:0040283 - Occasional | | | 101 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 747 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | HP:0040283 - Occasional | | | 45 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 1 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 200 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 88 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040282 - Frequent | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040282 - Frequent | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 222 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | . | | | 54 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | MYLK CL E G H | 4638 | 7590 | OMIM:249210 | MOVED TO 155310 | | | | 326 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | | | | 30 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040282 - Frequent | | | 3 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | REN CL E G H | 5972 | 9958 | OMIM:267430 | Renal tubular dysgenesis | . | | | 25 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 572 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:615397 | Meckel syndrome, type 11 | . | | | 33 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | . | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0001562 | HP:0001562 | Oligohydramnios | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |