Phenotype: Abnormality of the pulmonary vasculature (HP:0004930)
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: MITF
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: TYR
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SNAI2
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: EDNRB
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: KITLG
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SOX10
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: PAX6
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: ITPR1
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
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: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: ELN
disease_id: OMIM:185500
disease_name: SUPRAVALVULAR AORTIC STENOSIS
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: RPL10
disease_id: ORPHA:435938
disease_name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism 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: EFEMP2
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: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
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
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: ARHGAP31
disease_id: OMIM:100300
disease_name: ADAMS-OLIVER SYNDROME 1
gene_symbol: GATA6
disease_id: ORPHA:2255
disease_name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: TCIRG1
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: CLCN7
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: SNX10
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: TNFSF11
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: MGP
disease_id: ORPHA:85202
disease_name: Keutel syndrome
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
gene_symbol: CCNQ
disease_id: ORPHA:140952
disease_name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
STAR syndrome
gene_symbol: NKX2-5
disease_id: OMIM:614432
disease_name: VENTRICULAR SEPTAL DEFECT 3
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: FOXC2
disease_id: ORPHA:33001
disease_name: Lymphedema-distichiasis syndrome
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: CRELD1
disease_id: OMIM:606217
disease_name: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: FLT4
disease_id: OMIM:618780
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7
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: ACVR2B
disease_id: OMIM:613751
disease_name: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: MMP21
disease_id: OMIM:616749
disease_name: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
gene_symbol: FADD
disease_id: ORPHA:306550
disease_name: FADD-related immunodeficiency
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: PKD1L1
disease_id: OMIM:617205
disease_name: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EOGT
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: JAG1
disease_id: OMIM:617992
disease_name: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: FBLN5
disease_id: OMIM:219100
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: LTBP1
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: NOTCH2
disease_id: OMIM:610205
disease_name: ALAGILLE SYNDROME 2
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TRAIP
disease_id: OMIM:616777
disease_name: SECKEL SYNDROME 9
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: RPS15A
disease_id: OMIM:618313
disease_name: DIAMOND-BLACKFAN ANEMIA 20
gene_symbol: NIPA1
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: TUBG1
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: NIPA2
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: CFAP53
disease_id: OMIM:614779
disease_name: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: EIF2AK4
disease_id: OMIM:234810
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: GDF2
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: SMAD4
disease_id: OMIM:175050
disease_name: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
gene_symbol: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: DNAH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NME8
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: TTC12
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: FOXJ1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC40
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAI2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NME5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPAG1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAL1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP221
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAJB13
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAI1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RPGR
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP74
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: MCIDAS
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: GAS2L2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: HYDIN
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: STK36
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NEK10
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: OFD1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ZMYND10
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH4A
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP298
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPEF2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCNO
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: LRRC56
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF19
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF6
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP300
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC39
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: WT1
disease_id: ORPHA:3097
disease_name: Meacham syndrome
Meacham-Winn-Culler syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
gene_symbol: DHCR24
disease_id: ORPHA:35107
disease_name: Desmosterolosis
gene_symbol: TBX5
disease_id: ORPHA:392
disease_name: Holt-Oram syndrome
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: CITED2
disease_id: OMIM:614433
disease_name: ATRIAL SEPTAL DEFECT 8
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: RIPPLY2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: TBX6
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: DLL3
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: LFNG
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: HES7
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: MESP2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: TMEM260
disease_id: OMIM:617478
disease_name: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1