Phenotype: Situs inversus totalis (HP:0001696)
Associated genes and diseases:
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: DNAI1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: KIAA0753
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PDE6D
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CSPP1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CSPP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: OFD1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: OFD1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SUFU
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: AHI1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP120
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM67
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM67
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: ARL13B
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP104
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: HYLS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KATNIP
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM218
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP41
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0586
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: INPP5E
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: PIBF1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARMC9
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TOGARAM1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CBY1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: ARL3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: IFT74
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM237
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM237
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: DNAAF6
disease_id: OMIM:300991
disease_name: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
gene_symbol: DNAAF6
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: CFAP300
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: PRRX1
disease_id: ORPHA:990
disease_name: Agnathia-holoprosencephaly-situs inversus syndrome
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: OTX2
disease_id: ORPHA:990
disease_name: Agnathia-holoprosencephaly-situs inversus syndrome
gene_symbol: ODAD4
disease_id: OMIM:617092
disease_name: CILIARY DYSKINESIA, PRIMARY, 35
gene_symbol: ODAD4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: DNAH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: RSPH3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: ARL2BP
disease_id: OMIM:615434
disease_name: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: CCNO
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: MNS1
disease_id: OMIM:618948
disease_name: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: DNAH1
disease_id: OMIM:617577
disease_name: CILIARY DYSKINESIA, PRIMARY, 37
gene_symbol: DNAH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: DNAI2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: HYDIN
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: WT1
disease_id: ORPHA:3097
disease_name: Meacham syndrome
Meacham-Winn-Culler syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: RSPH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: DNAAF4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: SLC38A3
disease_id: OMIM:619881
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: RSPH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: DNAAF5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP52
disease_id: OMIM:619607
disease_name: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: ZMYND10
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP45
disease_id: OMIM:619608
disease_name: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: DNAL4
disease_id: OMIM:616059
disease_name: MIRROR MOVEMENTS 3
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: DNAAF19
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RTTN
disease_id: OMIM:614833
disease_name: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
gene_symbol: DNAH11
disease_id: OMIM:611884
disease_name: CILIARY DYSKINESIA, PRIMARY, 7
gene_symbol: DNAH11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH5
disease_id: OMIM:608644
disease_name: CILIARY DYSKINESIA, PRIMARY, 3
gene_symbol: DNAH5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: CFAP74
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NME5
disease_id: OMIM:620032
disease_name: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS
gene_symbol: NME5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: DNAAF1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
gene_symbol: ODAD2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: ZNF423
disease_id: OMIM:614844
disease_name: NEPHRONOPHTHISIS 14
gene_symbol: NEK8
disease_id: OMIM:615415
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
gene_symbol: MMP21
disease_id: OMIM:616749
disease_name: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
gene_symbol: ODAD3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DNAAF3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
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: CCDC40
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: SPAG1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAL1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
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: DNAAF11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: RPGR
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: MCIDAS
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: 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: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: NEK10
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: DNAAF2
disease_id: OMIM:612518
disease_name: CILIARY DYSKINESIA, PRIMARY, 10
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: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: SPEF2
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: CCDC39
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: TMEM107
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP290
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM216
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM231
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TXNDC15
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: ANKS6
disease_id: OMIM:615382
disease_name: NEPHRONOPHTHISIS 16
gene_symbol: TTC8
disease_id: OMIM:615985
disease_name: BARDET-BIEDL SYNDROME 8
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: CFAP53
disease_id: OMIM:614779
disease_name: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: INVS
disease_id: OMIM:602088
disease_name: NEPHRONOPHTHISIS 2
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52