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:0001680 | HP:0001680 | Coarctation of aorta | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | HP:0040283 - Occasional | | | 53 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 172 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 10 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | . | | | 28 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 196 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | . | | | 43 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040283 - Occasional | | | 228 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | HP:0040283 - Occasional | | | 1269 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 117 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 90 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 452 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | . | | | 13 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040282 - Frequent | | | 641 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040283 - Occasional | | | 58 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SMAD6 CL E G H | 4091 | 6772 | OMIM:614823 | Aortic valve disease 2 | . | | | 33 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 33 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040284 - Very rare | | | 60 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TBX20 CL E G H | 57057 | 11598 | OMIM:611363 | ATRIAL SEPTAL DEFECT 4; ASD4 | | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 14 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | . | | | 60 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001680 | HP:0001680 | Coarctation of aorta | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0001680 | HP:0031054 | Long segment coarctation of the aorta | 1 | CL E G H | | | | | | | | | | |
HP:0001680 | HP:0031053 | Coarctation in the transverse aortic arch | 1 | CL E G H | | | | | | | | | | |
HP:0001680 | HP:0004974 | Coarctation of abdominal aorta | 1 | CL E G H | | | | | | | | | | |
HP:0001680 | HP:0012305 | Coarctation of the descending aortic arch | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0001680 | HP:0012305 | Coarctation of the descending aortic arch | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001680 | HP:0011647 | Postductal coarctation of the aorta | 2 | CL E G H | | | | | | | | | | |
HP:0001680 | HP:0011646 | Juxtaductal coarctation of the aorta | 2 | CL E G H | | | | | | | | | | |
HP:0001680 | HP:0005151 | Preductal coarctation of the aorta | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | |