TaoMedAI/RareMedData huggingface dataset:
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: ABCC6
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: CELA2A
disease_id: OMIM:618620
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 4
gene_symbol: ABCA1
disease_id: ORPHA:31150
disease_name: Tangier disease
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: CYP7A1
disease_id: ORPHA:209902
disease_name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Phenotype: Arteriovenous fistula (HP:0004947)
Associated genes and diseases:
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: RASA1
disease_id: OMIM:608354
disease_name: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: AGGF1
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: EPHB4
disease_id: ORPHA:1053
disease_name: Vein of Galen aneurysmal malformation
Vein of Galen arteriovenous malformations
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated genes and diseases:
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: PRKACA
disease_id: OMIM:619142
disease_name: CARDIOACROFACIAL DYSPLASIA 1
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
gene_symbol: GDF1
disease_id: OMIM:613854
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: ACVR2B
disease_id: OMIM:613751
disease_name: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: NKX2-5
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: TBX1
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: NKX2-6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: GATA6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: WDPCP
disease_id: OMIM:217085
disease_name: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated genes and diseases:
gene_symbol: MYL2
disease_id: OMIM:608758
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
gene_symbol: KLHL24
disease_id: OMIM:620236
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: HGSNAT
disease_id: OMIM:252930
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
gene_symbol: NAGLU
disease_id: OMIM:252920
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIB
gene_symbol: CAV3
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYLK2
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYH6
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYH7
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
gene_symbol: MYOZ2
disease_id: OMIM:613838
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
gene_symbol: PRKAG2
disease_id: OMIM:600858
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
Phenotype: Tachyphagia (HP:6000352)
Associated genes and diseases:
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
Phenotype: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts (HP:6000355)
Associated genes and diseases:
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: MLYCD
disease_id: ORPHA:943
disease_name: Malonic aciduria
Deficiency of malonyl-CoA decarboxylase
MLYCD deficiency
Malonic acidemia
Malonyl-CoA decarboxylase deficiency
Phenotype: Reduced tissue medium-chain acyl-CoA dehydrogenase activity (HP:6000356)
Associated genes and diseases:
gene_symbol: ACADM
disease_id: OMIM:201450
disease_name: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
Phenotype: Reduced tissue argininosuccinate synthetase activity (HP:6000353)
Associated genes and diseases:
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
Phenotype: Reduced aspartoacylase activity in cultured fibroblasts (HP:6000354)
Associated genes and diseases:
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
Phenotype: Reduced muscle 6-phosphofructokinase activity (HP:6000359)
Associated genes and diseases:
gene_symbol: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
Phenotype: Reduced cystathionine beta-synthase activity in cultured fibroblasts (HP:6000357)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated genes and diseases:
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated genes and diseases:
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1B
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CAV3
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYLK2
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYH6
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: MYH7
disease_id: OMIM:192600
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: SYT2
disease_id: OMIM:619461
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE
gene_symbol: TAB2
disease_id: OMIM:614980
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: NKX2-5
disease_id: OMIM:108900
disease_name: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: WDPCP
disease_id: OMIM:217085
disease_name: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
gene_symbol: WDPCP
disease_id: ORPHA:1338
disease_name: Heart defect-tongue hamartoma-polysyndactyly syndrome
Ostravik-Lindemann-Solberg syndrome
gene_symbol: FXN
disease_id: OMIM:601992
disease_name: FRIEDREICH ATAXIA 2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated genes and diseases:
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: PPA2
disease_id: OMIM:617223
disease_name: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: JPH2
disease_id: OMIM:613873
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: MYPN
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: FLNC
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNT2
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNI3
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: KIF20A
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: DOLK
disease_id: ORPHA:91131
disease_name: DK1-CDG
CDG syndrome type Im
CDG-Im
CDG1M
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Phenotype: Loss of voice (HP:0001686)
Associated genes and diseases:
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: SDHAF2
disease_id: OMIM:601650
disease_name: PARAGANGLIOMAS 2
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: SDHA
disease_id: OMIM:619259
disease_name: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
gene_symbol: SDHC
disease_id: OMIM:605373
disease_name: PARAGANGLIOMAS 3
Phenotype: Reduced muscle glycogen phosphorylase activity (HP:6000358)
Associated genes and diseases:
gene_symbol: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
Phenotype: Reduced tissue alpha-N-acetylglucosaminidase activity (HP:6000360)
Associated genes and diseases:
gene_symbol: NAGLU
disease_id: OMIM:252920
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIB
Phenotype: Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts (HP:6000361)
Associated genes and diseases:
gene_symbol: OXCT1
disease_id: OMIM:245050
disease_name: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY
gene_symbol: OXCT1
disease_id: ORPHA:832
disease_name: Succinyl-CoA:3-oxoacid CoA transferase deficiency
OXCT1 deficiency
SCOT deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Phenotype: Brown pigmentation of the conjunctiva (HP:6000365)
Associated genes and diseases:
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
Phenotype: Absent pulmonary artery (HP:0004960)
Associated genes and diseases:
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
Phenotype: Pulmonary artery sling (HP:0004961)
Associated genes and diseases:
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
Phenotype: Thoracic aorta calcification (HP:0004962)
Associated genes and diseases:
gene_symbol: NOTCH1
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: NKX2-5
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: GATA5
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: SMAD6
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
Phenotype: Medial calcification of large arteries (HP:0004966)
Associated genes and diseases:
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
Phenotype: Recurrent cerebral hemorrhage (HP:0004968)
Associated genes and diseases:
gene_symbol: APP
disease_id: OMIM:605714
disease_name: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Phenotype: Cardiac shunt (HP:0001693)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: DBR1
disease_id: OMIM:620510
disease_name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: MYH11
disease_id: OMIM:619351
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
Phenotype: Right-to-left shunt (HP:0001694)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
Phenotype: Muscular subvalvular aortic stenosis (HP:0001691)
Associated genes and diseases:
gene_symbol: FXN
disease_id: OMIM:601992
disease_name: FRIEDREICH ATAXIA 2
Phenotype: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine (HP:6000330)
Associated genes and diseases:
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
Phenotype: Reduced hepatic phosphorylase kinase activity (HP:6000333)
Associated genes and diseases:
gene_symbol: PHKG2
disease_id: OMIM:613027
disease_name: GLYCOGEN STORAGE DISEASE IXc
gene_symbol: PHKA2
disease_id: OMIM:306000
disease_name: GLYCOGEN STORAGE DISEASE IXa1
gene_symbol: PHKB
disease_id: OMIM:261750
disease_name: GLYCOGEN STORAGE DISEASE IXb
Phenotype: Reduced hepatic ornithine transcarbamylase activity (HP:6000334)
Associated genes and diseases:
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Phenotype: Elevated urinary thymine level (HP:6000331)
Associated genes and diseases:
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
Phenotype: Elevated urinary indoleacetic acid level (HP:6000332)
Associated genes and diseases:
gene_symbol: SLC6A19
disease_id: OMIM:234500
disease_name: HARTNUP DISORDER
Phenotype: Elevated urinary quinolinic acid level (HP:6000335)
Associated genes and diseases:
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
Phenotype: Rectal duplication (HP:6000336)
Associated genes and diseases:
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad