Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal morphology of the great vessels (HP:0030962)help
Grandparent Node:
expand
Abnormal systemic arterial morphology (HP:0011004)help
Parent Node:
expand
Abnormal aortic morphology (HP:0001679)help
..Starting node
..expand
Coarctation of aorta (HP:0001680)help
Term ID: 1680
Name: Coarctation of aorta
Synonym: Aortic coarctation; Coarctation of the aorta; Narrowing of aorta; Narrowing of the aorta
Definition: Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Comments:
Reference: HP:0001680
Genes and Diseases:
 
       Child Nodes:
........expandCoarctation of abdominal aorta (HP:0004974) help
........expandCoarctation of the descending aortic arch (HP:0012305) help
................... HP:0005151 Preductal coarctation of the aorta
................... HP:0011646 Juxtaductal coarctation of the aorta
................... HP:0011647 Postductal coarctation of the aorta
........expandCoarctation in the transverse aortic arch (HP:0031053) help
........expandLong segment coarctation of the aorta (HP:0031054) help

 Sister Nodes: 
..expandAbnormal aortic arch morphology (HP:0012303) help
..expandAbnormal ascending aorta morphology (HP:0031784) help
..expandAortic aneurysm (HP:0004942) help
..expandAortic atherosclerotic lesion (HP:0012397) help
..expandAortic dissection (HP:0002647) help
..expandAortic rupture (HP:0031649) help
..expandAortic tortuosity (HP:0006687) help
..expandAorto-ventricular tunnel (HP:0011627) help
..expandAortopulmonary collateral arteries (HP:0031834) help
..expandCalcification of the aorta (HP:0004963) help
..expandCoated aorta (HP:0025494) help
..expandDescending aorta hypoplasia (HP:0025495) help
..expandMucoid extracellular matrix accumulation (HP:0200146) help
..expandOverriding aorta (HP:0002623) help
..expandPenetrating aortic ulcer (HP:0031648) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001680HP:0001680Coarctation of aorta0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0001680HP:0001680Coarctation of aorta0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndromeHP:0040284 - Very rare51
HP:0001680HP:0001680Coarctation of aorta0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001680HP:0001680Coarctation of aorta0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiencyHP:0040283 - Occasional26
HP:0001680HP:0001680Coarctation of aorta0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001680HP:0001680Coarctation of aorta0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0001680HP:0001680Coarctation of aorta0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0001680HP:0001680Coarctation of aorta0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001680HP:0001680Coarctation of aorta0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0001680HP:0001680Coarctation of aorta0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0001680HP:0001680Coarctation of aorta0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0001680HP:0001680Coarctation of aorta0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0001680HP:0001680Coarctation of aorta0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001680HP:0001680Coarctation of aorta0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001680HP:0001680Coarctation of aorta0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0001680HP:0001680Coarctation of aorta0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0001680HP:0001680Coarctation of aorta0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001680HP:0001680Coarctation of aorta0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0001680HP:0001680Coarctation of aorta0CIROP CL E G H10012890853647OMIM:619702HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001680HP:0001680Coarctation of aorta0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0001680HP:0001680Coarctation of aorta0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001680HP:0001680Coarctation of aorta0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0001680HP:0001680Coarctation of aorta0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0001680HP:0001680Coarctation of aorta0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0001680HP:0001680Coarctation of aorta0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001680HP:0001680Coarctation of aorta0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001680HP:0001680Coarctation of aorta0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0001680HP:0001680Coarctation of aorta0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0001680HP:0001680Coarctation of aorta0DOHH CL E G H8347528662OMIM:620066
HP:0001680HP:0001680Coarctation of aorta0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0001680HP:0001680Coarctation of aorta0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0001680HP:0001680Coarctation of aorta0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001680HP:0001680Coarctation of aorta0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001680HP:0001680Coarctation of aorta0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0001680HP:0001680Coarctation of aorta0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001680HP:0001680Coarctation of aorta0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001680HP:0001680Coarctation of aorta0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0001680HP:0001680Coarctation of aorta0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional172
HP:0001680HP:0001680Coarctation of aorta0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0001680HP:0001680Coarctation of aorta0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001680HP:0001680Coarctation of aorta0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0001680HP:0001680Coarctation of aorta0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0001680HP:0001680Coarctation of aorta0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0001680HP:0001680Coarctation of aorta0GATA5 CL E G H14062815802ORPHA:402075Familial bicuspid aortic valveHP:0040281 - Very frequent10
HP:0001680HP:0001680Coarctation of aorta0GATA6 CL E G H26274174OMIM:217095Conotruncal heart malformations.37
HP:0001680HP:0001680Coarctation of aorta0GDF1 CL E G H26574214OMIM:613854Congenital heart defects, multiple types, 6.28
HP:0001680HP:0001680Coarctation of aorta0GJA1 CL E G H26974274OMIM:241550HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS168
HP:0001680HP:0001680Coarctation of aorta0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0001680HP:0001680Coarctation of aorta0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0001680HP:0001680Coarctation of aorta0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0001680HP:0001680Coarctation of aorta0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001680HP:0001680Coarctation of aorta0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0001680HP:0001680Coarctation of aorta0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0001680HP:0001680Coarctation of aorta0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001680HP:0001680Coarctation of aorta0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0001680HP:0001680Coarctation of aorta0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001680HP:0001680Coarctation of aorta0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001680HP:0001680Coarctation of aorta0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0001680HP:0001680Coarctation of aorta0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001680HP:0001680Coarctation of aorta0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional196
HP:0001680HP:0001680Coarctation of aorta0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0001680HP:0001680Coarctation of aorta0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0001680HP:0001680Coarctation of aorta0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001680HP:0001680Coarctation of aorta0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 2.43
HP:0001680HP:0001680Coarctation of aorta0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0001680HP:0001680Coarctation of aorta0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001680HP:0001680Coarctation of aorta0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0001680HP:0001680Coarctation of aorta0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001680HP:0001680Coarctation of aorta0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0001680HP:0001680Coarctation of aorta0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0001680HP:0001680Coarctation of aorta0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001680HP:0001680Coarctation of aorta0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0001680HP:0001680Coarctation of aorta0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0001680HP:0001680Coarctation of aorta0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1SHP:0040283 - Occasional1269
HP:0001680HP:0001680Coarctation of aorta0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001680HP:0001680Coarctation of aorta0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040284 - Very rare117
HP:0001680HP:0001680Coarctation of aorta0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0NKX2-5 CL E G H14822488OMIM:217095Conotruncal heart malformations.90
HP:0001680HP:0001680Coarctation of aorta0NKX2-5 CL E G H14822488ORPHA:402075Familial bicuspid aortic valveHP:0040281 - Very frequent90
HP:0001680HP:0001680Coarctation of aorta0NKX2-6 CL E G H13781432940OMIM:217095Conotruncal heart malformations.3
HP:0001680HP:0001680Coarctation of aorta0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0001680HP:0001680Coarctation of aorta0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional45
HP:0001680HP:0001680Coarctation of aorta0NOTCH1 CL E G H48517881ORPHA:402075Familial bicuspid aortic valveHP:0040281 - Very frequent452
HP:0001680HP:0001680Coarctation of aorta0NR2F2 CL E G H70267976OMIM:615779Congenital heart defects, multiple types, 4.13
HP:0001680HP:0001680Coarctation of aorta0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0001680HP:0001680Coarctation of aorta0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040282 - Frequent641
HP:0001680HP:0001680Coarctation of aorta0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0001680HP:0001680Coarctation of aorta0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001680HP:0001680Coarctation of aorta0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional665
HP:0001680HP:0001680Coarctation of aorta0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040283 - Occasional58
HP:0001680HP:0001680Coarctation of aorta0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0001680HP:0001680Coarctation of aorta0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0001680HP:0001680Coarctation of aorta0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0001680HP:0001680Coarctation of aorta0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0001680HP:0001680Coarctation of aorta0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0001680HP:0001680Coarctation of aorta0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001680HP:0001680Coarctation of aorta0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001680HP:0001680Coarctation of aorta0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001680HP:0001680Coarctation of aorta0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001680HP:0001680Coarctation of aorta0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001680HP:0001680Coarctation of aorta0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001680HP:0001680Coarctation of aorta0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0001680HP:0001680Coarctation of aorta0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0001680HP:0001680Coarctation of aorta0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0001680HP:0001680Coarctation of aorta0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001680HP:0001680Coarctation of aorta0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0001680HP:0001680Coarctation of aorta0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0001680HP:0001680Coarctation of aorta0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0001680HP:0001680Coarctation of aorta0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001680HP:0001680Coarctation of aorta0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001680HP:0001680Coarctation of aorta0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001680HP:0001680Coarctation of aorta0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001680HP:0001680Coarctation of aorta0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0001680HP:0001680Coarctation of aorta0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional67
HP:0001680HP:0001680Coarctation of aorta0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0001680HP:0001680Coarctation of aorta0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001680HP:0001680Coarctation of aorta0SMAD6 CL E G H40916772OMIM:614823Aortic valve disease 2.33
HP:0001680HP:0001680Coarctation of aorta0SMAD6 CL E G H40916772ORPHA:402075Familial bicuspid aortic valveHP:0040281 - Very frequent33
HP:0001680HP:0001680Coarctation of aorta0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0001680HP:0001680Coarctation of aorta0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0001680HP:0001680Coarctation of aorta0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0001680HP:0001680Coarctation of aorta0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0001680HP:0001680Coarctation of aorta0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0001680HP:0001680Coarctation of aorta0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalitiesHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional99
HP:0001680HP:0001680Coarctation of aorta0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0001680HP:0001680Coarctation of aorta0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040284 - Very rare60
HP:0001680HP:0001680Coarctation of aorta0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001680HP:0001680Coarctation of aorta0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0001680HP:0001680Coarctation of aorta0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040283 - Occasional34
HP:0001680HP:0001680Coarctation of aorta0TBX1 CL E G H689911592OMIM:217095Conotruncal heart malformations.32
HP:0001680HP:0001680Coarctation of aorta0TBX20 CL E G H5705711598OMIM:611363ATRIAL SEPTAL DEFECT 4; ASD420
HP:0001680HP:0001680Coarctation of aorta0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional1
HP:0001680HP:0001680Coarctation of aorta0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0001680HP:0001680Coarctation of aorta0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0001680HP:0001680Coarctation of aorta0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0001680HP:0001680Coarctation of aorta0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0001680HP:0001680Coarctation of aorta0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0001680HP:0001680Coarctation of aorta0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001680HP:0001680Coarctation of aorta0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040284 - Very rare14
HP:0001680HP:0001680Coarctation of aorta0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0001680HP:0001680Coarctation of aorta0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0001680HP:0001680Coarctation of aorta0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0001680HP:0001680Coarctation of aorta0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0001680HP:0001680Coarctation of aorta0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0001680HP:0001680Coarctation of aorta0WT1 CL E G H749012796ORPHA:3097Meacham syndromeHP:0040283 - Occasional177
HP:0001680HP:0001680Coarctation of aorta0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001680HP:0001680Coarctation of aorta0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0001680HP:0001680Coarctation of aorta0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional34
HP:0001680HP:0001680Coarctation of aorta0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0001680HP:0001680Coarctation of aorta0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001680HP:0031054Long segment coarctation of the aorta1 CL E G H
HP:0001680HP:0031053Coarctation in the transverse aortic arch1 CL E G H
HP:0001680HP:0004974Coarctation of abdominal aorta1 CL E G H
HP:0001680HP:0012305Coarctation of the descending aortic arch1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0001680HP:0012305Coarctation of the descending aortic arch1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001680HP:0011647Postductal coarctation of the aorta2 CL E G H
HP:0001680HP:0011646Juxtaductal coarctation of the aorta2 CL E G H
HP:0001680HP:0005151Preductal coarctation of the aorta2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270


Genes (133) :ABCD4 ABL1 ADA2 ADK ALDH18A1 ALG3 AMER1 ATN1 BRAF BUB1 BUB1B BUB3 CDH2 CDK8 CDON CEP57 CHD4 CIROP CPLANE1 CREBBP CTCF DHCR7 DISP1 DLL1 DOHH DYNC2LI1 EHMT1 ELN EP300 FANCB FBLN5 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GATA1 GATA5 GATA6 GDF1 GJA1 GJA5 GJA8 GLI2 GLI3 HRAS JAG1 KDM6A KMT2D KRAS LZTR1 MAP2K1 MCTP2 MED12 MEIS2 MID1 MKS1 MMP14 MMP2 MYH7 NF1 NIPA1 NIPA2 NKX2-5 NKX2-6 NODAL NOTCH1 NR2F2 NRAS PAH PGM1 PPP1CB PTCH1 PTH1R PTPN11 PUF60 RBM8A RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SF3B2 SHH SIX3 SMAD4 SMAD6 SMARCA2 SOS2 SRCAP SRY STAG2 STIL STRA6 SUCLG1 SUPT16H TALDO1 TBX1 TBX20 TDGF1 TGDS TGIF1 TRAF7 TRIP13 TRRAP TSR2 TUBG1 UBE3B UNC45B WAC WDPCP WT1 ZEB2 ZIC2 ZIC3 ZNF148

Diseases (95) :OMIM:614857 OMIM:617602 ORPHA:124 OMIM:614300 ORPHA:90348 ORPHA:79321 ORPHA:2780 OMIM:618494 OMIM:163950 ORPHA:1052 OMIM:618929 OMIM:618748 ORPHA:280195 OMIM:614114 OMIM:617159 OMIM:619702 OMIM:277170 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:363611 OMIM:615502 OMIM:270400 OMIM:620066 OMIM:617088 ORPHA:96147 ORPHA:353284 OMIM:300514 ORPHA:2396 ORPHA:2308 OMIM:265380 ORPHA:402075 OMIM:217095 OMIM:613854 OMIM:241550 OMIM:612474 OMIM:146510 ORPHA:672 OMIM:163200 OMIM:118450 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:600268 OMIM:616564 OMIM:605275 ORPHA:1596 ORPHA:93932 OMIM:301068 OMIM:600987 ORPHA:2745 OMIM:249000 ORPHA:371428 OMIM:613426 ORPHA:97685 ORPHA:261183 OMIM:270100 OMIM:615779 ORPHA:2209 OMIM:614921 OMIM:617506 ORPHA:50945 ORPHA:508488 ORPHA:508498 OMIM:274000 OMIM:210710 OMIM:105650 OMIM:164210 OMIM:139210 OMIM:614823 OMIM:601358 OMIM:616559 OMIM:136140 ORPHA:2044 ORPHA:1772 OMIM:301022 OMIM:601186 ORPHA:17 OMIM:619480 OMIM:606003 ORPHA:101028 OMIM:611363 OMIM:616145 OMIM:618164 OMIM:618454 OMIM:244450 OMIM:619178 ORPHA:284169 OMIM:217085 OMIM:608978 ORPHA:3097 ORPHA:261552 ORPHA:261537 OMIM:306955 OMIM:617260
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.