Phenotype: Abnormal eye morphology (HP:0012372)
Associated genes and diseases:
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: FOXE1
disease_id: OMIM:241850
disease_name: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: TFAP2B
disease_id: OMIM:169100
disease_name: CHAR SYNDROME
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: ACOX1
disease_id: ORPHA:2971
disease_name: Peroxisomal acyl-CoA oxidase deficiency
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: ASXL3
disease_id: ORPHA:352577
disease_name: Bainbridge-Ropers syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: GON7
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: KNL1
disease_id: OMIM:604321
disease_name: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ALG13
disease_id: ORPHA:324422
disease_name: ALG13-CDG
CDG syndrome type Is
CDG-Is
CDG1S
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: NKX2-5
disease_id: ORPHA:1627
disease_name: Deletion 5q35 syndrome
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
gene_symbol: NKX2-5
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: SEC23A
disease_id: ORPHA:50814
disease_name: Craniolenticulosutural dysplasia
Boyadjiev-Jabs syndrome
gene_symbol: CTNND1
disease_id: OMIM:617681
disease_name: BLEPHAROCHEILODONTIC SYNDROME 2
gene_symbol: CTNND1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: MN1
disease_id: OMIM:618774
disease_name: CEBALID SYNDROME
gene_symbol: PPP2R5D
disease_id: OMIM:616355
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: SMARCD1
disease_id: OMIM:618779
disease_name: COFFIN-SIRIS SYNDROME 11
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: OMIM:217085
disease_name: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: OMIM:615984
disease_name: BARDET-BIEDL SYNDROME 7
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: CHD8
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: ZNF526
disease_id: OMIM:619877
disease_name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
gene_symbol: RET
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ITGA8
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ITGA8
disease_id: OMIM:191830
disease_name: RENAL HYPODYSPLASIA/APLASIA 1
gene_symbol: FGF20
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GFRA1
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: WNT9B
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GREB1L
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: ORPHA:2662
disease_name: Keipert syndrome
Nasodigitoacoustic syndrome
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: BCL11B
disease_id: OMIM:618092
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: OMIM:612528
disease_name: DIAMOND-BLACKFAN ANEMIA 5
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: OMIM:612563
disease_name: DIAMOND-BLACKFAN ANEMIA 8
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: OMIM:612561
disease_name: DIAMOND-BLACKFAN ANEMIA 6
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: INTS8
disease_id: OMIM:618572
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: GATAD2B
disease_id: OMIM:615074
disease_name: GAND SYNDROME
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: OGT
disease_id: OMIM:300997
disease_name: MENTAL RETARDATION, X-LINKED 106
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: EHMT1
disease_id: ORPHA:96147
disease_name: Kleefstra syndrome due to 9q34 microdeletion
9q subtelomeric deletion syndrome
9qSTDS
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: NEB
disease_id: OMIM:256030
disease_name: NEMALINE MYOPATHY 2
gene_symbol: NEB
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: UMPS
disease_id: ORPHA:30
disease_name: Hereditary orotic aciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: KATNB1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: NDE1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: AVP
disease_id: OMIM:125700
disease_name: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
gene_symbol: RAI1
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:1713
disease_name: 17p11.2 microduplication syndrome
Potocki-Lupski syndrome
Trisomy 17p11.2
gene_symbol: FLCN
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: SPART
disease_id: ORPHA:101000
disease_name: Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: MRPS14
disease_id: OMIM:618378
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: KIF21A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: NUP88
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: TUBA1A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MYOD1
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MAGEL2
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MUSK
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: RAPSN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: RAPSN
disease_id: OMIM:618388
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 2
gene_symbol: GLDN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: SLC18A3
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: DOK7
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: CCNK
disease_id: OMIM:618147
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
gene_symbol: CTU2
disease_id: OMIM:618142
disease_name: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: SUPT16H
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: TRIO
disease_id: OMIM:618825
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: GNE
disease_id: ORPHA:3166
disease_name: Sialuria
Sialuria, French type
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: THSD1
disease_id: OMIM:620244
disease_name: LYMPHATIC MALFORMATION 13
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: YRDC
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: TPRKB
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: NUP107
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: WDR4
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: NUP133
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: TP53RK
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: LAGE3
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: CCND2
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: PIK3R2
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: AKT3
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: EXOSC9
disease_id: OMIM:618065
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: RPS6KA3
disease_id: ORPHA:276630
disease_name: Symptomatic form of Coffin-Lowry syndrome in female carriers
gene_symbol: CLCN6
disease_id: OMIM:619173
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: OMIM:615716
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
gene_symbol: HELLS
disease_id: OMIM:616911
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
gene_symbol: HELLS
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: OMIM:616910
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
gene_symbol: CDCA7
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
gene_symbol: TXNL4A
disease_id: ORPHA:1200
disease_name: Burn-McKeown syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
gene_symbol: PDHX
disease_id: OMIM:245349
disease_name: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: ZBTB18
disease_id: ORPHA:36367
disease_name: Distal deletion 1q syndrome
Distal monosomy 1q
Monosomy 1qter
Telomeric deletion 1q
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: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
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: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
gene_symbol: FOXP1
disease_id: ORPHA:391372
disease_name: FOXP1 Syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: SLC1A4
disease_id: ORPHA:447997
disease_name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
gene_symbol: PHIP
disease_id: ORPHA:589905
disease_name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Chung-Jansen syndrome
DIDOD
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: MEF2C
disease_id: OMIM:613443
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
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: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: ALG1
disease_id: OMIM:608540
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: GLE1
disease_id: ORPHA:1486
disease_name: Lethal congenital contracture syndrome type 1
Herva disease
LCCS1
Multiple contracture syndrome, Finnish type
gene_symbol: KPTN
disease_id: OMIM:615637
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
gene_symbol: USB1
disease_id: OMIM:604173
disease_name: POIKILODERMA WITH NEUTROPENIA
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: BLTP1
disease_id: OMIM:617822
disease_name: ALKURAYA-KUCINSKAS SYNDROME
gene_symbol: TWIST2
disease_id: ORPHA:1231
disease_name: Barber-Say syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
gene_symbol: TWIST2
disease_id: OMIM:209885
disease_name: BARBER-SAY SYNDROME
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: CDH2
disease_id: OMIM:618929
disease_name: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
gene_symbol: TRAPPC9
disease_id: ORPHA:352530
disease_name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
gene_symbol: TRAPPC9
disease_id: OMIM:613192
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: STRADA
disease_id: OMIM:611087
disease_name: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: IL1RAPL1
disease_id: OMIM:300143
disease_name: MENTAL RETARDATION, X-LINKED 21
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: DHX37
disease_id: OMIM:618731
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: TCF3
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: SLC45A1
disease_id: OMIM:617532
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: HEPACAM
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: CDH1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: PRORP
disease_id: OMIM:619737
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
gene_symbol: RSRC1
disease_id: OMIM:618402
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: HID1
disease_id: OMIM:619983
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: AP4S1
disease_id: OMIM:614067
disease_name: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
gene_symbol: H4C11
disease_id: OMIM:619759
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: PAFAH1B1
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: YWHAE
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: ZBTB24
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: GPAA1
disease_id: ORPHA:529665
disease_name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: PARS2
disease_id: OMIM:618437
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75
gene_symbol: DBR1
disease_id: OMIM:620510
disease_name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
gene_symbol: B4GALT1
disease_id: ORPHA:79332
disease_name: B4GALT1-CDG
Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: PTRH2
disease_id: ORPHA:456312
disease_name: Infantile multisystem neurologic-endocrine-pancreatic disease
IMNEPD
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:324581
disease_name: Benign Samaritan congenital myopathy
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: AP1G1
disease_id: OMIM:619548
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: CD79A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: CD79B
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: SPI1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: IGLL1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: PIK3CD
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: IGHM
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: BLNK
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: LRRC8A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: LRRC8A
disease_id: OMIM:613506
disease_name: AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT
gene_symbol: SPRY4
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: PROK2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TACR3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: DUSP6
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: NSMF
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: WDR11
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: NHLH2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: HS6ST1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRH1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRHR
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1R
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TAC3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGF17
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: ACTL6B
disease_id: OMIM:618470
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: KREMEN1
disease_id: OMIM:617392
disease_name: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: MARS1
disease_id: OMIM:620323
disease_name: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: MTOR
disease_id: ORPHA:457485
disease_name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MINDS syndrome
Smith-Kingsmore syndrome
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: THOC2
disease_id: ORPHA:457240
disease_name: X-linked intellectual disability-short stature-overweight syndrome
gene_symbol: ZMYND11
disease_id: OMIM:616083
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: OMIM:220500
disease_name: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: CCDC32
disease_id: OMIM:619123
disease_name: CARDIOFACIONEURODEVELOPMENTAL SYNDROME
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: NCDN
disease_id: OMIM:619373
disease_name: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: PHACTR1
disease_id: OMIM:618298
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
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: SKIC2
disease_id: OMIM:614602
disease_name: TRICHOHEPATOENTERIC SYNDROME 2
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: CIT
disease_id: OMIM:617090
disease_name: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ZNF462
disease_id: ORPHA:502430
disease_name: Weiss-Kruszka Syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
gene_symbol: NALCN
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: ACY1
disease_id: ORPHA:137754
disease_name: Aminoacylase 1 deficiency
ACY1D
N-acyl-L-amino acid amidohydrolase deficiency
N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
gene_symbol: ACY1
disease_id: OMIM:609924
disease_name: AMINOACYLASE 1 DEFICIENCY
gene_symbol: PDZD8
disease_id: OMIM:620021
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: ACTA1
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: UHRF1
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: WARS2
disease_id: ORPHA:572798
disease_name: WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: SCYL2
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: COL25A1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: ERGIC1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: CHRNA1
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: CHRND
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: ZIC1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: KLF13
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: CHRNA7
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: TRIP4
disease_id: OMIM:616866
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: PSMD12
disease_id: OMIM:617516
disease_name: STANKIEWICZ-ISIDOR SYNDROME
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: PRDM13
disease_id: OMIM:619909
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 17
gene_symbol: TRIM33
disease_id: ORPHA:2412
disease_name: Dislocation of the hip-dysmorphism syndrome
Collins-Pope syndrome
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: TRIP12
disease_id: OMIM:617752
disease_name: CLARK-BARAITSER SYNDROME
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: VPS51
disease_id: OMIM:618606
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 13
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: EPB41L1
disease_id: OMIM:614257
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
gene_symbol: ATCAY
disease_id: ORPHA:94122
disease_name: Cerebellar ataxia, Cayman type
Cayman ataxia
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: MAN2C1
disease_id: OMIM:619775
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION 2
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: FGF3
disease_id: ORPHA:2791
disease_name: Otodental syndrome
Globodontia
Otodental dysplasia
gene_symbol: RAB3GAP1
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: PAX2
disease_id: ORPHA:1475
disease_name: Renal coloboma syndrome
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: AHI1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: INPP5E
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP120
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: MKS1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: SALL2
disease_id: OMIM:216820
disease_name: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: CTNS
disease_id: ORPHA:411629
disease_name: Infantile nephropathic cystinosis
gene_symbol: TGFBI
disease_id: ORPHA:98964
disease_name: Lattice corneal dystrophy type I
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: PBX1
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: MAG
disease_id: ORPHA:459056
disease_name: Autosomal recessive spastic paraplegia type 75
SPG75
gene_symbol: TNPO2
disease_id: OMIM:619556
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
gene_symbol: H1-4
disease_id: OMIM:617537
disease_name: RAHMAN SYNDROME
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: C1QBP
disease_id: OMIM:617713
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: NEUROD2
disease_id: OMIM:618374
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
gene_symbol: GLRB
disease_id: OMIM:614619
disease_name: HYPEREKPLEXIA 2
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
gene_symbol: GRIA1
disease_id: OMIM:619927
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67
gene_symbol: ZBTB7A
disease_id: OMIM:619769
disease_name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: FBXW7
disease_id: OMIM:620012
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE
gene_symbol: ROBO3
disease_id: OMIM:607313
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1
gene_symbol: KCNJ11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: KCNJ11
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: KLF11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: GCK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: GCK
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: APPL1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BLK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BLK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: CEL
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PDX1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PDX1
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: ABCC8
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: ABCC8
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: PAX4
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: HNF4A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: HNF1A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: HBB
disease_id: ORPHA:232
disease_name: Sickle cell anemia
gene_symbol: HBB
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBB
disease_id: OMIM:603903
disease_name: SICKLE CELL ANEMIA
gene_symbol: COX15
disease_id: OMIM:615119
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: PROS1
disease_id: ORPHA:743
disease_name: Severe hereditary thrombophilia due to congenital protein S deficiency
Autosomal recessive thrombophilia due to congenital protein S deficiency
gene_symbol: KLF1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG2
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: TXN2
disease_id: ORPHA:478029
disease_name: Combined oxidative phosphorylation defect type 29
COXPD29
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: CDK4
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: MGMT
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: TERF2IP
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: ACD
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: CDKN2A
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: POT1
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: CDKN2B
disease_id: ORPHA:618
disease_name: Familial melanoma
gene_symbol: SAR1B
disease_id: ORPHA:71
disease_name: Chylomicron retention disease
Anderson disease
CMRD
CRD
gene_symbol: FCGR3B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ITGAM
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: JAZF1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFSF4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: BANK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IGHG1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IRAK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PDCD1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ETS1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: FCGR2B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNIP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: UBE2L3
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: KIAA0319L
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IRF5
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: DNASE1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TLR7
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: SPP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PXK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: AP5Z1
disease_id: ORPHA:306511
disease_name: Autosomal recessive spastic paraplegia type 48
SPG48
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: ALKBH8
disease_id: OMIM:618504
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
gene_symbol: STAG1
disease_id: ORPHA:502434
disease_name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: DCPS
disease_id: OMIM:616459
disease_name: AL-RAQAD SYNDROME
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: COA3
disease_id: OMIM:619058
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: COX8A
disease_id: OMIM:619059
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: MEIS2
disease_id: ORPHA:261190
disease_name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
15q14 microdeletion syndrome
Del(15)(q14)
Monosomy 15q14
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: ANKRD17
disease_id: OMIM:619504
disease_name: CHOPRA-AMIEL-GORDON SYNDROME
gene_symbol: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: KIDINS220
disease_id: ORPHA:521390
disease_name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
SINO syndrome
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: PAK3
disease_id: OMIM:300558
disease_name: MENTAL RETARDATION, X-LINKED 30
gene_symbol: NGF
disease_id: ORPHA:64752
disease_name: Hereditary sensory and autonomic neuropathy type 5
CIP
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
gene_symbol: NTRK1
disease_id: ORPHA:64752
disease_name: Hereditary sensory and autonomic neuropathy type 5
CIP
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: THOC6
disease_id: OMIM:613680
disease_name: BEAULIEU-BOYCOTT-INNES SYNDROME
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
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: SRC
disease_id: OMIM:616937
disease_name: THROMBOCYTOPENIA 6
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: KDM5C
disease_id: ORPHA:85279
disease_name: KDM5C-related syndromic X-linked intellectual disability
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: TBC1D7
disease_id: ORPHA:2477
disease_name: Megalencephaly
Macroencephaly
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: ORAI1
disease_id: ORPHA:3204
disease_name: Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: HECW2
disease_id: OMIM:617268
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
gene_symbol: ZPR1
disease_id: OMIM:619321
disease_name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
gene_symbol: SRRM2
disease_id: OMIM:620439
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
gene_symbol: PLEC
disease_id: OMIM:612138
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: HS6ST2
disease_id: OMIM:301025
disease_name: PAGANINI-MIOZZO SYNDROME
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: PAK1
disease_id: OMIM:618158
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
gene_symbol: RARS2
disease_id: OMIM:611523
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 6
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: SSR4
disease_id: ORPHA:370927
disease_name: SSR4-CDG
CDG syndrome type Iy
CDG-Iy
CDG1Y
Carbohydrate deficient glycoprotein syndrome type Iy
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type Iy
gene_symbol: SSR4
disease_id: OMIM:300934
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
gene_symbol: FMR1
disease_id: ORPHA:261483
disease_name: Xq27.3q28 duplication syndrome
Dup(X)(q27.3q28)
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
gene_symbol: SLC9A6
disease_id: ORPHA:85278
disease_name: Christianson syndrome
X-linked Angelman-like syndrome
gene_symbol: FARSA
disease_id: OMIM:619013
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
gene_symbol: AGL
disease_id: OMIM:232400
disease_name: GLYCOGEN STORAGE DISEASE III
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: SPIN4
disease_id: OMIM:301114
disease_name: LUI-JEE-BARON SYNDROME
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: AGO2
disease_id: OMIM:619149
disease_name: LESSEL-KREIENKAMP SYNDROME
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: NOVA2
disease_id: OMIM:618859
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: ALOX12B
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: CERS3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: SULT2B1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: PNPLA1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ALOXE3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: NIPAL4
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: TGM1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: SDR9C7
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: KRT3
disease_id: OMIM:618767
disease_name: CORNEAL DYSTROPHY, MEESMANN, 2
gene_symbol: SLC39A4
disease_id: ORPHA:37
disease_name: Acrodermatitis enteropathica
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
gene_symbol: RAG1
disease_id: OMIM:601457
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
gene_symbol: RAG2
disease_id: OMIM:601457
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: TNFRSF13C
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: CD19
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: TNFRSF13B
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CR2
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: TFRC
disease_id: OMIM:616740
disease_name: IMMUNODEFICIENCY 46
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: STX11
disease_id: OMIM:603552
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
gene_symbol: PLG
disease_id: OMIM:217090
disease_name: PLASMINOGEN DEFICIENCY, TYPE I
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: SAMD9
disease_id: OMIM:610455
disease_name: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
gene_symbol: IGSF3
disease_id: OMIM:149700
disease_name: LACRIMAL DUCT DEFECT
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: MYO6
disease_id: OMIM:607821
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 37
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: GATA3
disease_id: ORPHA:2237
disease_name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
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: 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: DNAAF5
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: 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: HSPD1
disease_id: ORPHA:100994
disease_name: Autosomal dominant spastic paraplegia type 13
SPG13
gene_symbol: KIF5A
disease_id: ORPHA:100991
disease_name: Autosomal dominant spastic paraplegia type 10
SPG10
gene_symbol: ASPA
disease_id: ORPHA:314918
disease_name: Mild Canavan disease
Juvenile Canavan disease
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: MSRB3
disease_id: OMIM:613718
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 74
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: ADAMTSL4
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: ADAMTSL4
disease_id: OMIM:225200
disease_name: ECTOPIA LENTIS ET PUPILLAE
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: TRAPPC11
disease_id: ORPHA:369840
disease_name: TRAPPC11-related limb-girdle muscular dystrophy R18
Autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD type 2S
LGMD2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related LGMD R18
gene_symbol: TRAPPC11
disease_id: ORPHA:369847
disease_name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: TUBB2B
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: VLDLR
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: WDR81
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: ATP8A2
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: CA8
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: GALM
disease_id: OMIM:618881
disease_name: GALACTOSEMIA IV
gene_symbol: GALM
disease_id: ORPHA:570422
disease_name: Galactose mutarotase deficiency
GALM deficiency
Galactosemia type 4
gene_symbol: GFER
disease_id: OMIM:613076
disease_name: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY
gene_symbol: RDH11
disease_id: OMIM:616108
disease_name: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: FTL
disease_id: ORPHA:163
disease_name: Hereditary hyperferritinemia-cataract syndrome
HHCS
Hereditary hyperferritinemia with cataracts
Hereditary hyperferritinemia-cataract disease
gene_symbol: FTL
disease_id: ORPHA:254704
disease_name: Genetic hyperferritinemia without iron overload
Benign hyperferritinemia
gene_symbol: FTL
disease_id: OMIM:600886
disease_name: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: DNMBP
disease_id: OMIM:618415
disease_name: CATARACT 48
gene_symbol: GSR
disease_id: OMIM:618660
disease_name: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: ALDOB
disease_id: ORPHA:469
disease_name: Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: PTH
disease_id: OMIM:146200
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
gene_symbol: SMPX
disease_id: OMIM:301075
disease_name: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
gene_symbol: CLPB
disease_id: OMIM:619813
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: OMIM:268315
disease_name: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION
gene_symbol: LAMB1
disease_id: OMIM:615191
disease_name: LISSENCEPHALY 5
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
gene_symbol: NOP10
disease_id: OMIM:620425
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: FOSL2
disease_id: OMIM:620789
disease_name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: COL7A1
disease_id: OMIM:226600
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
gene_symbol: FGF5
disease_id: OMIM:190330
disease_name: TRICHOMEGALY
gene_symbol: EIF2B2
disease_id: OMIM:620312
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2
gene_symbol: DMPK
disease_id: OMIM:160900
disease_name: MYOTONIC DYSTROPHY 1
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: OAT
disease_id: ORPHA:414
disease_name: Gyrate atrophy of choroid and retina
HOGA
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT86
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT83
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: MED11
disease_id: OMIM:620327
disease_name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: B4GALNT1
disease_id: ORPHA:101006
disease_name: Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
SPG26
gene_symbol: RNF13
disease_id: OMIM:618379
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
gene_symbol: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: COL4A4
disease_id: OMIM:203780
disease_name: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
gene_symbol: CRYBA2
disease_id: OMIM:115900
disease_name: CATARACT 42
gene_symbol: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: SHROOM4
disease_id: ORPHA:85288
disease_name: X-linked intellectual disability, Stocco Dos Santos type
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: COPB1
disease_id: OMIM:619255
disease_name: BARALLE-MACKEN SYNDROME
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: PNPT1
disease_id: OMIM:614932
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
gene_symbol: IQCB1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: IQCB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: INVS
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP4
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP3
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CEP164
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: OPA3
disease_id: OMIM:165300
disease_name: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: SLC40A1
disease_id: OMIM:606069
disease_name: HEMOCHROMATOSIS, TYPE 4
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: DGUOK
disease_id: ORPHA:329314
disease_name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
gene_symbol: CNBP
disease_id: ORPHA:606
disease_name: Proximal myotonic myopathy
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
gene_symbol: ANO1
disease_id: OMIM:620045
disease_name: INTESTINAL DYSMOTILITY SYNDROME
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: TDRD7
disease_id: OMIM:613887
disease_name: CATARACT 36
gene_symbol: FAM111B
disease_id: OMIM:615704
disease_name: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: RD3
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: LSS
disease_id: ORPHA:1366
disease_name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
gene_symbol: GALK1
disease_id: OMIM:230200
disease_name: GALACTOSEMIA II
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: SLC16A12
disease_id: OMIM:612018
disease_name: CATARACT 47
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: TUBG1
disease_id: OMIM:615412
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
gene_symbol: PDZD7
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: WHRN
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: ADGRV1
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ARSG
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: MT-TS2
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: HARS1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: CEP78
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: FAM50A
disease_id: OMIM:300261
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE
gene_symbol: CDH23
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1C
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1G
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ESPN
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CIB2
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: PCDH15
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: INPP5K
disease_id: OMIM:617404
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: VHL
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: CRYBB3
disease_id: OMIM:609741
disease_name: CATARACT 22, MULTIPLE TYPES
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: CRYBA1
disease_id: OMIM:600881
disease_name: CATARACT 10, MULTIPLE TYPES
gene_symbol: SIPA1L3
disease_id: OMIM:616851
disease_name: CATARACT 45
gene_symbol: COL4A3
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: MT-TS1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO3
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TC
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TV
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TF
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TK
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND5
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND6
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: RIC1
disease_id: OMIM:618761
disease_name: CATIFA SYNDROME
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: SEC31A
disease_id: OMIM:618651
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: HYCC1
disease_id: ORPHA:85163
disease_name: Hypomyelination-congenital cataract syndrome
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
gene_symbol: MAFA
disease_id: OMIM:147630
disease_name: INSULINOMATOSIS AND DIABETES MELLITUS
gene_symbol: BFSP2
disease_id: OMIM:611597
disease_name: CATARACT 12, MULTIPLE TYPES
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: ENTPD1
disease_id: OMIM:615683
disease_name: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
gene_symbol: GCNT2
disease_id: OMIM:116700
disease_name: CATARACT 13 WITH ADULT i PHENOTYPE
gene_symbol: KCNA4
disease_id: OMIM:618284
disease_name: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
gene_symbol: CRYGB
disease_id: OMIM:615188
disease_name: CATARACT 39, MULTIPLE TYPES
gene_symbol: MSMO1
disease_id: OMIM:616834
disease_name: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: CACNA1C
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: THRB
disease_id: OMIM:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: CLP1
disease_id: ORPHA:411493
disease_name: Pontocerebellar hypoplasia type 10
CLP1-related pontocerebellar hypoplasia
PCH10
gene_symbol: MTHFR
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
gene_symbol: VANGL2
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
gene_symbol: POLD1
disease_id: OMIM:615381
disease_name: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: ABCA12
disease_id: OMIM:242500
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TLL1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: TBX20
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GLYR1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: NAA15
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GLIS1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ODAD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: PLXND1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: SOX7
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: MYH6
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: KDR
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: KDR
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: PKD1L1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: MMP21
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: MYRF
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: RBFOX2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CFAP45
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CFC1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: LMCD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ACVR2B
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: TMEM260
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: TNS1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: LEFTY2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CITED2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CITED2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: SHROOM3
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ROBO4
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CFAP53
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: PPP1R13L
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CRELD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SMAD6
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: HAND2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GATA5
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GATA5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: FOXL1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: FOXJ1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ZFPM2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ZFPM2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: PLD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ANKRD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: NR2F2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GDF1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: GDF1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: ALDH1A2
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: MUC16
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: ACTC1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: PRKD1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: SRF
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: HAND1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: DZIP1
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: MYH7
disease_id: OMIM:187500
disease_name: TETRALOGY OF FALLOT
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: PRUNE1
disease_id: OMIM:617481
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: DYNC1I2
disease_id: OMIM:618492
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: CDK5RAP2
disease_id: OMIM:604804
disease_name: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SLC39A14
disease_id: OMIM:144755
disease_name: HYPEROSTOSIS CRANIALIS INTERNA
gene_symbol: ASPM
disease_id: OMIM:608716
disease_name: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: ALK
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LIN28B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LMO1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PHOX2B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: ABHD5
disease_id: OMIM:275630
disease_name: CHANARIN-DORFMAN SYNDROME
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: EFEMP1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: CYP1B1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MYH11
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFBR1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFBR2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: LOX
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FBN1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ACTA2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MFAP5
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MYLK
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: THSD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ELN
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: EFEMP2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: LDHD
disease_id: OMIM:245450
disease_name: D-LACTIC ACIDURIA WITH GOUT
gene_symbol: SEM1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: EPS15L1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: REST
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIM28
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: POU6F2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: STRA6
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: FREM1
disease_id: OMIM:248450
disease_name: MANITOBA OCULOTRICHOANAL SYNDROME
gene_symbol: FREM1
disease_id: ORPHA:2717
disease_name: Oculotrichoanal syndrome
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: RARB
disease_id: OMIM:615524
disease_name: MICROPHTHALMIA, SYNDROMIC 12
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
gene_symbol: WNT7B
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: TMEM107
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: HADHA
disease_id: ORPHA:5
disease_name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX12
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX13
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX14
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: FLRT1
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: KLC2
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: KLC2
disease_id: OMIM:609541
disease_name: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
gene_symbol: GRID2
disease_id: OMIM:616204
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
gene_symbol: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: SPG7
disease_id: ORPHA:99013
disease_name: Spastic paraplegia type 7
SPG7
gene_symbol: STX3
disease_id: OMIM:619446
disease_name: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE
gene_symbol: PDXK
disease_id: OMIM:618511
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY
gene_symbol: AP4M1
disease_id: OMIM:612936
disease_name: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
gene_symbol: MIEF1
disease_id: OMIM:620550
disease_name: OPTIC ATROPHY 14
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: GFM2
disease_id: ORPHA:565624
disease_name: Combined oxidative phosphorylation defect type 39
COXPD39
GFM2-related combined oxidative phosphorylation defect
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13
gene_symbol: MCAT
disease_id: OMIM:620583
disease_name: OPTIC ATROPHY 15
gene_symbol: MFF
disease_id: ORPHA:485421
disease_name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
gene_symbol: MFF
disease_id: OMIM:617086
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: GNB5
disease_id: OMIM:617173
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: HSD17B10
disease_id: OMIM:300438
disease_name: HSD10 MITOCHONDRIAL DISEASE
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
gene_symbol: CP
disease_id: OMIM:604290
disease_name: ACERULOPLASMINEMIA
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: CLN6
disease_id: OMIM:601780
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 6
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: NEK8
disease_id: OMIM:613824
disease_name: NEPHRONOPHTHISIS 9
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DNM1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: STAT4
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: STAT4
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RB
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL2RB
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: ANKRD55
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: ANKRD55
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN22
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN22
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: CD247
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: CD247
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RA
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL2RA
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN2
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN2
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: DNASE1L3
disease_id: ORPHA:36412
disease_name: Hypocomplementemic urticarial vasculitis
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: NLRP3
disease_id: OMIM:607115
disease_name: CINCA SYNDROME
gene_symbol: NLRP3
disease_id: ORPHA:575
disease_name: Muckle-Wells syndrome
Neutrophilic urticaria
gene_symbol: NLRP3
disease_id: ORPHA:1451
disease_name: CINCA syndrome
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
gene_symbol: NLRP3
disease_id: OMIM:120100
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
gene_symbol: TKT
disease_id: OMIM:617044
disease_name: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: BTNL2
disease_id: OMIM:612387
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: NOD2
disease_id: OMIM:186580
disease_name: BLAU SYNDROME
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: EXOSC3
disease_id: OMIM:614678
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
gene_symbol: FUT8
disease_id: OMIM:618005
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: ZFHX2
disease_id: OMIM:147430
disease_name: MARSILI SYNDROME
gene_symbol: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: TMEM216
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: YAP1
disease_id: OMIM:120433
disease_name: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
gene_symbol: YAP1
disease_id: ORPHA:1473
disease_name: Uveal coloboma-cleft lip and palate-intellectual disability
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: ZNF668
disease_id: OMIM:620194
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: GZF1
disease_id: OMIM:617662
disease_name: JOINT LAXITY, SHORT STATURE, AND MYOPIA
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: WAC
disease_id: ORPHA:284169
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
10p12p11 microdeletion syndrome
Del(10)(p11.21p12.31)
Deletion 10p11.21p12.31
Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
Monosomy 10p11.21p12.31
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: CLDN19
disease_id: ORPHA:2196
disease_name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
gene_symbol: HHAT
disease_id: ORPHA:1422
disease_name: Chondrodysplasia-difference of sex development syndrome
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome
gene_symbol: MPDZ
disease_id: OMIM:615219
disease_name: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
gene_symbol: RBP4
disease_id: OMIM:616428
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
gene_symbol: TMEM231
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: ZNF423
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: JAM3
disease_id: OMIM:613730
disease_name: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
gene_symbol: PIGN
disease_id: ORPHA:2059
disease_name: Fryns syndrome
Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: SLC38A8
disease_id: OMIM:609218
disease_name: FOVEAL HYPOPLASIA 2
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCF
disease_id: OMIM:603467
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP F
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: OMIM:614082
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP G
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: TUBGCP4
disease_id: OMIM:616335
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
gene_symbol: RTTN
disease_id: OMIM:614833
disease_name: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
gene_symbol: COX14
disease_id: OMIM:619053
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: OMIM:617244
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP R
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: OMIM:609054
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP J
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
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: 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: KIF15
disease_id: OMIM:619981
disease_name: BRADDOCK-CAREY SYNDROME 2
gene_symbol: KERA
disease_id: OMIM:217300
disease_name: CORNEA PLANA 2, AUTOSOMAL RECESSIVE
gene_symbol: SMG9
disease_id: OMIM:616920
disease_name: HEART AND BRAIN MALFORMATION SYNDROME
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: KIF14
disease_id: OMIM:617914
disease_name: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: VAX1
disease_id: OMIM:614402
disease_name: MICROPHTHALMIA, SYNDROMIC 11
gene_symbol: SYCE1
disease_id: OMIM:616947
disease_name: PREMATURE OVARIAN FAILURE 12
gene_symbol: SLC2A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SYNGAP1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: AP2M1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SCN1A
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: NEXMIF
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: CHD2
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SLC6A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: RASA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PROX1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SVEP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: EPHB4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PMM2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CELSR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RELN
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIEZO1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FOXC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GATA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RORC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NAGA
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LYVE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FLT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ARAP3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOX18
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TIE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ADAMTS3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ERG
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHANK3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FBXL7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MDFIC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CHD5
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VEGFC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN14
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: TMTC3
disease_id: OMIM:617255
disease_name: LISSENCEPHALY 8
gene_symbol: ARX
disease_id: OMIM:308350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: MAPRE2
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TUBB
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: ATN1
disease_id: OMIM:618494
disease_name: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
gene_symbol: OSGEP
disease_id: OMIM:617729
disease_name: GALLOWAY-MOWAT SYNDROME 3
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: PIK3CA
disease_id: OMIM:602501
disease_name: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: PHYH
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: TUBGCP6
disease_id: OMIM:251270
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
gene_symbol: GCDH
disease_id: ORPHA:25
disease_name: Glutaryl-CoA dehydrogenase deficiency
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
gene_symbol: PRF1
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: DNM2
disease_id: OMIM:615368
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: HKDC1
disease_id: OMIM:619614
disease_name: RETINITIS PIGMENTOSA 92
gene_symbol: MECR
disease_id: OMIM:617282
disease_name: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: ISCA1
disease_id: OMIM:617613
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: HYMAI
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PLAGL1
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: MYO5A
disease_id: ORPHA:33445
disease_name: Neuroectodermal melanolysosomal disease
Elejalde neuroectodermal melanolysosomal disease
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: TYR
disease_id: ORPHA:79431
disease_name: Oculocutaneous albinism type 1A
OCA1A
Tyrosinase-negative oculocutaneous albinism
gene_symbol: TYR
disease_id: ORPHA:79434
disease_name: Oculocutaneous albinism type 1B
OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: DDX11
disease_id: OMIM:613398
disease_name: WARSAW BREAKAGE SYNDROME
gene_symbol: SPINT2
disease_id: OMIM:270420
disease_name: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: SMO
disease_id: ORPHA:1553
disease_name: Curry-Jones syndrome
Corpus callosum agenesis-polysyndactyly syndrome
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: GDF6
disease_id: OMIM:613094
disease_name: MICROPHTHALMIA, ISOLATED 4
gene_symbol: GDF6
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: ACTG1
disease_id: OMIM:614583
disease_name: BARAITSER-WINTER SYNDROME 2
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
gene_symbol: CC2D2A
disease_id: OMIM:619111
disease_name: COACH SYNDROME 2
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CEP41
disease_id: OMIM:614464
disease_name: JOUBERT SYNDROME 15
gene_symbol: PAX6
disease_id: ORPHA:2334
disease_name: Autosomal dominant keratitis
Hereditary keratitis
gene_symbol: TMEM138
disease_id: OMIM:614465
disease_name: JOUBERT SYNDROME 16
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
gene_symbol: POMGNT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: SPECC1L
disease_id: OMIM:600251
disease_name: FACIAL CLEFTING, OBLIQUE, 1
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: KIAA0586
disease_id: OMIM:616490
disease_name: JOUBERT SYNDROME 23
gene_symbol: GMPPB
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FKRP
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:613153
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
gene_symbol: POMT2
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMK
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMK
disease_id: OMIM:615249
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
gene_symbol: POMT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: SRD5A3
disease_id: OMIM:612379
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: MITF
disease_id: OMIM:617306
disease_name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
gene_symbol: GDF3
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: TBX22
disease_id: OMIM:302905
disease_name: ABRUZZO-ERICKSON SYNDROME
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
gene_symbol: SHH
disease_id: OMIM:147250
disease_name: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
gene_symbol: OTX2
disease_id: OMIM:610125
disease_name: MICROPHTHALMIA, SYNDROMIC 5
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: SMCHD1
disease_id: OMIM:603457
disease_name: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: WDR37
disease_id: OMIM:618652
disease_name: NEUROOCULOCARDIOGENITOURINARY SYNDROME
gene_symbol: EIF3F
disease_id: OMIM:618295
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
gene_symbol: PDE6D
disease_id: OMIM:615665
disease_name: JOUBERT SYNDROME 22
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: NR4A2
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: TBR1
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: PRMT7
disease_id: ORPHA:464288
disease_name: Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:259450
disease_name: BRUCK SYNDROME 1
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: PLOD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: MVK
disease_id: ORPHA:29
disease_name: Mevalonic aciduria
Complete mevalonate kinase deficiency
MVA
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: CHSY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: ZNF469
disease_id: OMIM:229200
disease_name: BRITTLE CORNEA SYNDROME 1
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: RPS23
disease_id: OMIM:617412
disease_name: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: MED27
disease_id: OMIM:619286
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: DVL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: PYCR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: KMT2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: CHST14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST14
disease_id: OMIM:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DSE
disease_id: OMIM:615539
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
gene_symbol: NSD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MATN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCN6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDKN1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBM8A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ROR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: PIGV
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: PTDSS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC34A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ABCC9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT80
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC26A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: RAC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC25A24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FERMT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXD13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPPC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTRC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DONSON
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZC4H2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRCAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GSC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCNQ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EOGT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INPPL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INPPL1
disease_id: ORPHA:2746
disease_name: Opsismodysplasia
gene_symbol: CUL7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PKDCC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFSF11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUCA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FIG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCAL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FLNB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPM1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CILK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBPJ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NKX3-2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIP11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNLT2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SETD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SBDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMER1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LFNG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EZH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL2RG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AIFM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT43
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INTU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NAGLU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEMA3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACVR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT5B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP2R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: ANO5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSDHL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC73
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OBSL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ENPP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: FBXW4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSMB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: PROP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XRCC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HMGA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT10B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: COMP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TWIST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNX10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCIRG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BGN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IARS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFTUD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: POU1F1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTH1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CFAP410
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOC6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARCN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCARF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARID1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: ARSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NANS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RREB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLAG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLEKHM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SKI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: SLC39A13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: LAMA5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ECEL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT172
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SULF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3BP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MIR140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBXAS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GINS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GMNN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFNB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHODH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGSF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPCD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPPA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF4A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHCR24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LZTR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STIM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIPPLY2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL27A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HPGD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEOX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2LI1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZMPSTE24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL10A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT122
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TREM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTHLH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:619638
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE
gene_symbol: DDR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO5A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RALA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TONSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AFF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARHGAP31
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCNT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LONP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSMCE2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIK3R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35D1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CKAP2L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOSC5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CRIPT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KYNU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHEX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SUMF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT7A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCA4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HSPA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SFRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: THPO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEU1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYCN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LEMD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKRD11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: PSAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHRHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RUNX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE4D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HAAO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX15
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALMS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTSL2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKAR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCF12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSGALNACT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: PPP1CB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CENPE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3PXD2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UFSP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VDR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MANBA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMX1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMMECR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MNX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZSWIM6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT52
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANTXR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FZD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: SMOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NMNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PISD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUZ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNU4ATAC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SF3B4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAPK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS33A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRP54
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OSTM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXTL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LPIN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCUBE3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KCNJ2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNAJC21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COLEC11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT81
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDNRA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MECOM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGPS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS17
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FMN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: H19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VAC14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPSS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFIH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNRPB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC17A5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSX2
disease_id: OMIM:168500
disease_name: PARIETAL FORAMINA 1
gene_symbol: FGF9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ID4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GUSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MGP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACAN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBLN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35C1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HS2ST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGSH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLK4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC45
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPR161
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BHLHA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHR
disease_id: OMIM:262500
disease_name: LARON SYNDROME
gene_symbol: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: HDAC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROKR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BPNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CASR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBBP8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRRK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF2AK3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGFALS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TYROBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZBTB16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHSR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC42
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF22
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K20
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HES7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPR1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HGSNAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYL11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN2B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP152
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: NPR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HESX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDRGK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPRY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RECQL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM111A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V0A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: TMEM165
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIGI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LYSET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NADSYN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAIP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTC21B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GCM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPER
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL6ST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPINK5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DOCK6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MCM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC29A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP26B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KAT6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RASGRP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NXN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: GALNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP27B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNMT3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: PHGDH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAPPC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDUA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL1RN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PUS3
disease_id: ORPHA:488627
disease_name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
gene_symbol: PUS3
disease_id: OMIM:617051
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE
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: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: PRDM5
disease_id: OMIM:614170
disease_name: BRITTLE CORNEA SYNDROME 2
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: CYB5A
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: CYB5R3
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: COL12A1
disease_id: ORPHA:536516
disease_name: Myopathic Ehlers-Danlos syndrome
EDS/myopathy overlap syndrome
Myopathic EDS
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: PAX1
disease_id: OMIM:615560
disease_name: OTOFACIOCERVICAL SYNDROME 2
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: TMEM163
disease_id: OMIM:620243
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 25
gene_symbol: EXOSC1
disease_id: OMIM:619304
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: ELMO2
disease_id: ORPHA:3019
disease_name: Ramon syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: GPT2
disease_id: OMIM:616281
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY
gene_symbol: GPT2
disease_id: ORPHA:477673
disease_name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: CNOT1
disease_id: OMIM:618500
disease_name: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
gene_symbol: CNOT1
disease_id: ORPHA:556955
disease_name: Pancreatic agenesis-holoprosencephaly syndrome
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: DPM2
disease_id: ORPHA:329178
disease_name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: STIL
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: STIL
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: STIL
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: STIL
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: PLCH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: NTNG2
disease_id: OMIM:618718
disease_name: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: CUX1
disease_id: OMIM:618330
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: KAT8
disease_id: OMIM:618974
disease_name: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: C9
disease_id: OMIM:615591
disease_name: MACULAR DEGENERATION, AGE-RELATED, 15
gene_symbol: HTRA1
disease_id: OMIM:610149
disease_name: MACULAR DEGENERATION, AGE-RELATED, 7
gene_symbol: CST3
disease_id: OMIM:611953
disease_name: MACULAR DEGENERATION, AGE-RELATED, 11
gene_symbol: TUBA8
disease_id: ORPHA:250972
disease_name: Polymicrogyria with optic nerve hypoplasia
gene_symbol: SNF8
disease_id: OMIM:620783
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: PTF1A
disease_id: ORPHA:65288
disease_name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pancreatic and cerebellar agenesis
gene_symbol: CEP85L
disease_id: ORPHA:572013
disease_name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
gene_symbol: PTPN23
disease_id: OMIM:618890
disease_name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: DDHD2
disease_id: OMIM:615033
disease_name: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
gene_symbol: GABBR1
disease_id: OMIM:620502
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
gene_symbol: FOXA2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: GRIA4
disease_id: OMIM:617864
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: PROM1
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: PRPH2
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ELOVL4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ABCA4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: CNGB3
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: TIMP3
disease_id: ORPHA:59181
disease_name: Sorsby pseudoinflammatory fundus dystrophy
gene_symbol: CRB1
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: BEST1
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: TMEM98
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: ALDH1A3
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: PRSS56
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: MFRP
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: RAX
disease_id: ORPHA:35612
disease_name: Nanophthalmos
Nanophthalmia
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: CRYAA
disease_id: OMIM:604219
disease_name: CATARACT 9, MULTIPLE TYPES
gene_symbol: CRYAA
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: MIR204
disease_id: OMIM:616722
disease_name: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
gene_symbol: FGFR1
disease_id: OMIM:147950
disease_name: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
gene_symbol: FGFR1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: FGFR1
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: ROR1
disease_id: OMIM:617654
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 108
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: FLNA
disease_id: ORPHA:88630
disease_name: Terminal osseous dysplasia-pigmentary defects syndrome
gene_symbol: MED12L
disease_id: OMIM:618872
disease_name: NIZON-ISIDOR SYNDROME
gene_symbol: ELP4
disease_id: OMIM:617141
disease_name: ANIRIDIA 2
gene_symbol: NPHP1
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: KIFBP
disease_id: ORPHA:66629
disease_name: Goldberg-Shprintzen megacolon syndrome
GOSHS
Megacolon-microcephaly syndrome
gene_symbol: POMGNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: B3GALNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: COL4A1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: CRPPA
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: RXYLT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: DAG1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: B4GAT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: DLL1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: FGF8
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: TGIF1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: NODAL
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: SUFU
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
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: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: ZIC2
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: GAS1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: DISP1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: GLI2
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: FOXH1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: CRIPTO
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: PTCH1
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: PTCH1
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: CDON
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: CENPF
disease_id: OMIM:243605
disease_name: STROMME SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: ERF
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: VSX2
disease_id: OMIM:610092
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: LRP2
disease_id: ORPHA:2143
disease_name: Donnai-Barrow syndrome
DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: PNPLA6
disease_id: ORPHA:2377
disease_name: Laurence-Moon syndrome
LMS
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
gene_symbol: ALG2
disease_id: ORPHA:79326
disease_name: ALG2-CDG
CDG syndrome type Ii
CDG-Ii
CDG1I
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCEAL1
disease_id: OMIM:301094
disease_name: HIJAZI-REIS SYNDROME
gene_symbol: PXDN
disease_id: OMIM:269400
disease_name: ANTERIOR SEGMENT DYSGENESIS 7
gene_symbol: PTCH2
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: MAF
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: GJA8
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBA4
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB2
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB1
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGC
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGD
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: ABCB6
disease_id: OMIM:614497
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: GPR143
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: KRT71
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT74
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LIPH
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LPAR6
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT25
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: ELP1
disease_id: ORPHA:1764
disease_name: Familial dysautonomia
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: MPZ
disease_id: ORPHA:101082
disease_name: Charcot-Marie-Tooth disease type 1B
CMT1B
gene_symbol: HERC2
disease_id: OMIM:615516
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
gene_symbol: EDN3
disease_id: OMIM:613265
disease_name: WAARDENBURG SYNDROME, TYPE 4B
gene_symbol: KITLG
disease_id: OMIM:619947
disease_name: WAARDENBURG SYNDROME, TYPE 2F
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: TYRP1
disease_id: ORPHA:79433
disease_name: Oculocutaneous albinism type 3
OCA3
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
gene_symbol: VPS11
disease_id: OMIM:616683
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 12
gene_symbol: VPS11
disease_id: ORPHA:466934
disease_name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: SLC44A1
disease_id: OMIM:618868
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
gene_symbol: STT3B
disease_id: OMIM:615597
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix
gene_symbol: STT3B
disease_id: ORPHA:370924
disease_name: STT3B-CDG
CDG syndrome type Ix
CDG-Ix
CDG1X
Carbohydrate deficient glycoprotein syndrome type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: DIAPH1
disease_id: OMIM:616632
disease_name: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: SLC6A9
disease_id: OMIM:617301
disease_name: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
gene_symbol: IBA57
disease_id: OMIM:616451
disease_name: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
gene_symbol: IBA57
disease_id: ORPHA:468661
disease_name: Autosomal recessive spastic paraplegia type 74
SPG74
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: TRAPPC12
disease_id: OMIM:617669
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
gene_symbol: TRAPPC12
disease_id: ORPHA:500144
disease_name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
PEBAS
gene_symbol: SOX5
disease_id: ORPHA:313892
disease_name: Developmental and speech delay due to SOX5 deficiency
gene_symbol: SOX5
disease_id: OMIM:616803
disease_name: LAMB-SHAFFER SYNDROME
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: UCHL1
disease_id: OMIM:620221
disease_name: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA
gene_symbol: PCK1
disease_id: OMIM:261680
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
gene_symbol: ZNHIT3
disease_id: ORPHA:2836
disease_name: PEHO syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
gene_symbol: ZNHIT3
disease_id: OMIM:260565
disease_name: PEHO SYNDROME
gene_symbol: MTPAP
disease_id: ORPHA:254343
disease_name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia type 4
SPAX4
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: C19orf12
disease_id: OMIM:615043
disease_name: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
gene_symbol: PCYT2
disease_id: OMIM:618770
disease_name: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: TIMM50
disease_id: OMIM:617698
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
gene_symbol: TIMM50
disease_id: ORPHA:505216
disease_name: 3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
gene_symbol: CPSF3
disease_id: OMIM:619876
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
gene_symbol: ISCA2
disease_id: OMIM:616370
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: RFC1
disease_id: ORPHA:504476
disease_name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
gene_symbol: FCSK
disease_id: OMIM:618324
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
gene_symbol: FXN
disease_id: OMIM:229300
disease_name: FRIEDREICH ATAXIA
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: TMEM63A
disease_id: OMIM:618688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: EIF2B1
disease_id: OMIM:603896
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: CASP2
disease_id: OMIM:620653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
gene_symbol: SV2A
disease_id: OMIM:620772
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113
gene_symbol: MMUT
disease_id: ORPHA:79312
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
gene_symbol: MMUT
disease_id: ORPHA:289916
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0
gene_symbol: MT-RNR1
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
gene_symbol: MT-TP
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: RNF170
disease_id: OMIM:619686
disease_name: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
gene_symbol: EIF2B4
disease_id: OMIM:620314
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4
gene_symbol: KCTD7
disease_id: OMIM:611726
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: L2HGDH
disease_id: OMIM:236792
disease_name: L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: ST3GAL5
disease_id: OMIM:609056
disease_name: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: DENND5A
disease_id: OMIM:617281
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
gene_symbol: RBMX
disease_id: OMIM:309555
disease_name: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: SLC25A19
disease_id: ORPHA:99742
disease_name: Amish lethal microcephaly
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: TMEM222
disease_id: OMIM:619470
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
gene_symbol: NT5C2
disease_id: ORPHA:320396
disease_name: Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
gene_symbol: NUP62
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP62
disease_id: OMIM:271930
disease_name: STRIATONIGRAL DEGENERATION, INFANTILE
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: MID2
disease_id: OMIM:300928
disease_name: MENTAL RETARDATION, X-LINKED 101
gene_symbol: TOE1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: CTNNA2
disease_id: OMIM:618174
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
gene_symbol: PLA2G6
disease_id: OMIM:610217
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: SLC52A2
disease_id: OMIM:614707
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 2
gene_symbol: GLRX5
disease_id: ORPHA:401866
disease_name: Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Spasticity-ataxia-gait anomalies syndrome
gene_symbol: GLRX5
disease_id: OMIM:616859
disease_name: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
gene_symbol: ZNF592
disease_id: ORPHA:83472
disease_name: CAMOS syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5
gene_symbol: AMPD2
disease_id: OMIM:615809
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
gene_symbol: PTCD3
disease_id: OMIM:619057
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: SERAC1
disease_id: OMIM:614739
disease_name: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: TSEN54
disease_id: OMIM:277470
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: ADAM22
disease_id: OMIM:617933
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61
gene_symbol: TFG
disease_id: ORPHA:431329
disease_name: Autosomal recessive spastic paraplegia type 57
SPG57
Spastic paraplegia due to partial TFG deficiency
gene_symbol: TFG
disease_id: OMIM:615658
disease_name: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
gene_symbol: PMPCB
disease_id: OMIM:617954
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: THG1L
disease_id: OMIM:618800
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28
gene_symbol: TANGO2
disease_id: ORPHA:480864
disease_name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: HIKESHI
disease_id: OMIM:616881
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 13
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: IER3IP1
disease_id: OMIM:614231
disease_name: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
gene_symbol: CCDC88A
disease_id: OMIM:617507
disease_name: PEHO-LIKE SYNDROME
gene_symbol: SCYL1
disease_id: ORPHA:466794
disease_name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: KIF1A
disease_id: OMIM:614255
disease_name: NESCAV SYNDROME
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: APOC2
disease_id: OMIM:207750
disease_name: APOLIPOPROTEIN C-II DEFICIENCY
gene_symbol: G6PC1
disease_id: OMIM:232200
disease_name: GLYCOGEN STORAGE DISEASE Ia
gene_symbol: GPIHBP1
disease_id: OMIM:615947
disease_name: HYPERLIPOPROTEINEMIA, TYPE ID
gene_symbol: LPL
disease_id: OMIM:238600
disease_name: HYPERLIPOPROTEINEMIA, TYPE I
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: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TMEM53
disease_id: OMIM:619727
disease_name: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE
gene_symbol: MARK3
disease_id: OMIM:618283
disease_name: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: ATOH7
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NDP
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: FZD4
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: TAP1
disease_id: OMIM:604571
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE I
gene_symbol: APOA2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: EPHX2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPP1R17
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: LIPC
disease_id: OMIM:614025
disease_name: HEPATIC LIPASE DEFICIENCY
gene_symbol: SLC4A2
disease_id: OMIM:620366
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9
gene_symbol: UQCRFS1
disease_id: OMIM:618775
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: RNASEH2A
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2C
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: SAMHD1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNU7-1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: OVOL2
disease_id: OMIM:122000
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: TEK
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: VWA8
disease_id: OMIM:620422
disease_name: RETINITIS PIGMENTOSA 97
gene_symbol: COQ2
disease_id: OMIM:146500
disease_name: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: STUB1
disease_id: ORPHA:412057
disease_name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: HSD11B2
disease_id: OMIM:218030
disease_name: APPARENT MINERALOCORTICOID EXCESS
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: EPAS1
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: SCN9A
disease_id: OMIM:133020
disease_name: ERYTHERMALGIA, PRIMARY
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: LRTOMT
disease_id: OMIM:611451
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 63
gene_symbol: LHFPL5
disease_id: OMIM:610265
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 67
gene_symbol: GGCX
disease_id: ORPHA:436274
disease_name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PXE-like syndrome with retinitis pigmentosa
gene_symbol: SLC24A5
disease_id: ORPHA:370097
disease_name: Oculocutaneous albinism type 6
OCA6
gene_symbol: PPIP5K2
disease_id: OMIM:618422
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 100
gene_symbol: SCO2
disease_id: OMIM:608908
disease_name: MYOPIA 6
gene_symbol: BAP1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: CYSLTR2
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNA11
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SF3B1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: PDE6B
disease_id: OMIM:163500
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
gene_symbol: SNAI2
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: EDC3
disease_id: OMIM:616460
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50
gene_symbol: KIT
disease_id: OMIM:172800
disease_name: PIEBALD TRAIT
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: LYST
disease_id: ORPHA:352723
disease_name: Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: HPS4
disease_id: OMIM:614073
disease_name: HERMANSKY-PUDLAK SYNDROME 4
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: BLOC1S6
disease_id: OMIM:614171
disease_name: HERMANSKY-PUDLAK SYNDROME 9
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: SLC45A2
disease_id: ORPHA:79435
disease_name: Oculocutaneous albinism type 4
OCA4
gene_symbol: PRICKLE3
disease_id: OMIM:308905
disease_name: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: TGM3
disease_id: OMIM:617251
disease_name: UNCOMBABLE HAIR SYNDROME 2
gene_symbol: SLC4A11
disease_id: OMIM:217700
disease_name: CORNEAL ENDOTHELIAL DYSTROPHY
gene_symbol: SLC4A11
disease_id: OMIM:613268
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
gene_symbol: SLC4A11
disease_id: OMIM:217400
disease_name: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
gene_symbol: SLC4A11
disease_id: ORPHA:1490
disease_name: Corneal dystrophy-perceptive deafness syndrome
CDPD
Corneal dystrophy with progressive deafness
Corneal dystrophy with progressive hearing loss
Corneal dystrophy-perceptive hearing loss syndrome
Harboyan syndrome
gene_symbol: TACSTD2
disease_id: OMIM:204870
disease_name: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
gene_symbol: UBIAD1
disease_id: OMIM:121800
disease_name: SCHNYDER CORNEAL DYSTROPHY
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
gene_symbol: SLC25A4
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: AGK
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: KRT12
disease_id: OMIM:122100
disease_name: CORNEAL DYSTROPHY, MEESMANN, 1
gene_symbol: AGBL1
disease_id: OMIM:615523
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
gene_symbol: CHST6
disease_id: OMIM:217800
disease_name: MACULAR DYSTROPHY, CORNEAL
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: DCN
disease_id: OMIM:610048
disease_name: CORNEAL DYSTROPHY, CONGENITAL STROMAL
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: CISD2
disease_id: OMIM:604928
disease_name: WOLFRAM SYNDROME 2
gene_symbol: NDUFAF3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TIMMDC1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB10
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: FOXRED1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TMEM126B
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: NDUFS6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS7
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB9
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: CHM
disease_id: OMIM:303100
disease_name: CHOROIDEREMIA
gene_symbol: CHM
disease_id: ORPHA:180
disease_name: Choroideremia
CHM
Tapetochoroidal dystrophy
gene_symbol: EPHA2
disease_id: OMIM:116600
disease_name: CATARACT 6, MULTIPLE TYPES
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: PAK2
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: GP1BA
disease_id: OMIM:258660
disease_name: NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: MIR184
disease_id: OMIM:614303
disease_name: EDICT SYNDROME
gene_symbol: PITX3
disease_id: OMIM:107250
disease_name: ANTERIOR SEGMENT DYSGENESIS 1
gene_symbol: VSX1
disease_id: OMIM:614195
disease_name: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
gene_symbol: TAF2
disease_id: ORPHA:397951
disease_name: Microcephaly-thin corpus callosum-intellectual disability syndrome
gene_symbol: PRDM10
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: RNF216
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: MBD4
disease_id: OMIM:606660
disease_name: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1
gene_symbol: STK11
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: RAB27A
disease_id: ORPHA:79477
disease_name: Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
gene_symbol: MLPH
disease_id: ORPHA:79478
disease_name: Griscelli syndrome type 3
Griscelli-Pruniéras syndrome type 3
gene_symbol: UGP2
disease_id: OMIM:618744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
gene_symbol: FLG
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
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: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: PCNA
disease_id: ORPHA:438134
disease_name: PCNA-related progressive neurodegenerative photosensitivity syndrome
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: LIM2
disease_id: OMIM:615277
disease_name: CATARACT 19, MULTIPLE TYPES
gene_symbol: CHMP4B
disease_id: OMIM:605387
disease_name: CATARACT 31, MULTIPLE TYPES
gene_symbol: UNC45B
disease_id: OMIM:616279
disease_name: CATARACT 43
gene_symbol: PDCD10
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: KRIT1
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: CCM2
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: ARV1
disease_id: OMIM:617020
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ATF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: RAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNGA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CACNA1F
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA1F
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ADAM9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RIMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: UNC119
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: UNC119
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCA1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PITPNM3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TTLL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAB28
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: CNNM4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: NR2F1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GPR179
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRIT3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM126A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTNNA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CABP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: SLC19A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CYP4V2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHX40
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P4HA2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PPT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NEUROD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDPD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADIPOR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTPA
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTSD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMCN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNV2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TEAD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTRFR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFSD8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARR3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRPAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RTN4IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF644
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MAPKAPK3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: SLC25A46
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DTHD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMM8A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CWC27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPSF1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP250
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRIMPOL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALPK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6H
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CLCC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLCC1
disease_id: OMIM:609913
disease_name: RETINITIS PIGMENTOSA 32
gene_symbol: MTTP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: TRPM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: PDSS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PGK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RCBTB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLUAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRM6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: YPEL2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAMTS18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SAMD11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PANK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC39A5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SPP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ITM2B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLA2G5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LAMA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NYX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC4A7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC24A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC24A1
disease_id: OMIM:613830
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
gene_symbol: POC5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OR2W3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ASRGL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SSBP1
disease_id: OMIM:165510
disease_name: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: NUS1
disease_id: OMIM:617082
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: STS
disease_id: ORPHA:281090
disease_name: Syndromic recessive X-linked ichthyosis
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
gene_symbol: ST14
disease_id: OMIM:602400
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: GJB3
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: KDSR
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB4
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: LCAT
disease_id: ORPHA:79292
disease_name: Fish-eye disease
FED
Partial LCAT deficiency
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: ABCA1
disease_id: ORPHA:31150
disease_name: Tangier disease
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
gene_symbol: FERMT1
disease_id: ORPHA:2908
disease_name: Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: PIKFYVE
disease_id: OMIM:121850
disease_name: CORNEAL DYSTROPHY, FLECK
gene_symbol: ERBB3
disease_id: OMIM:607598
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 2
gene_symbol: CRYGS
disease_id: OMIM:116100
disease_name: CATARACT 20, MULTIPLE TYPES
gene_symbol: BFSP1
disease_id: OMIM:611391
disease_name: CATARACT 33, MULTIPLE TYPES
gene_symbol: MIP
disease_id: OMIM:615274
disease_name: CATARACT 15, MULTIPLE TYPES
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPE65
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NEK2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT88
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF31
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MAK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FSCN2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CERKL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIAA1549
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TUB
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: COQ8B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC7A14
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRCD
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USH2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RBP3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RHO
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP9
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NR2E3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF408
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: GUCA1B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AGBL5
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHX38
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TULP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KLHL7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1L1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIZ
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CFAP418
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SAG
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
gene_symbol: DUX4L1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DNMT3B
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: FRG1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DUX4
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: WT1
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: BDNF
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
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: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: TBCE
disease_id: ORPHA:2323
disease_name: Sanjad-Sakati syndrome
HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: RNF135
disease_id: ORPHA:137634
disease_name: Overgrowth-macrocephaly-facial dysmorphism syndrome
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: IFNG
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: MSH6
disease_id: OMIM:619097
disease_name: MISMATCH REPAIR CANCER SYNDROME 3
gene_symbol: PRRX1
disease_id: ORPHA:990
disease_name: Agnathia-holoprosencephaly-situs inversus syndrome
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: TP53
disease_id: OMIM:259500
disease_name: OSTEOGENIC SARCOMA
gene_symbol: CHEK2
disease_id: OMIM:259500
disease_name: OSTEOGENIC SARCOMA
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: HEXB
disease_id: ORPHA:309155
disease_name: Sandhoff disease, infantile form
Beta-hexosaminidase subunit beta deficiency, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: HSF4
disease_id: OMIM:116800
disease_name: CATARACT 5, MULTIPLE TYPES
gene_symbol: GJA3
disease_id: OMIM:601885
disease_name: CATARACT 14, MULTIPLE TYPES
gene_symbol: PANK4
disease_id: OMIM:619593
disease_name: CATARACT 49
gene_symbol: GPRASP2
disease_id: OMIM:301018
disease_name: DEAFNESS, X-LINKED 7
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: OMIM:615439
disease_name: MACULAR DEGENERATION, AGE-RELATED, 13
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: CLEC3B
disease_id: OMIM:619977
disease_name: MACULAR DYSTROPHY, RETINAL, 4
gene_symbol: CFHR3
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
gene_symbol: ATP2A2
disease_id: ORPHA:218
disease_name: Darier disease
Darier-White disease
Keratosis follicularis
gene_symbol: LACC1
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: MIF
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: IL6
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: BIRC3
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: MALT1
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: IGH
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: BCL10
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: TSHR
disease_id: ORPHA:424
disease_name: Familial hyperthyroidism due to mutations in TSH receptor
Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: FKBP14
disease_id: ORPHA:300179
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
FKBP14-related EDS
FKBP22-deficient EDS
Kyphoscoliotic EDS due to FKBP22 deficiency
kEDS-FKBP14
gene_symbol: F12
disease_id: ORPHA:330
disease_name: Congenital factor XII deficiency
Congenital Hageman factor deficiency
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
gene_symbol: ASB10
disease_id: OMIM:603383
disease_name: GLAUCOMA 1, OPEN ANGLE, F
gene_symbol: DCT
disease_id: OMIM:619165
disease_name: OCULOCUTANEOUS ALBINISM, TYPE VIII
gene_symbol: WDR45
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: LRMDA
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
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: SELENOI
disease_id: OMIM:618768
disease_name: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: SERPING1
disease_id: ORPHA:100050
disease_name: Hereditary angioedema type 1
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
gene_symbol: IGFBP7
disease_id: OMIM:614224
disease_name: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: ZEB1
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: GRHL2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: COL8A2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: GFPT1
disease_id: OMIM:610542
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 12
gene_symbol: LRRC32
disease_id: OMIM:619074
disease_name: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
gene_symbol: GRK1
disease_id: OMIM:613411
disease_name: OGUCHI DISEASE 2
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
gene_symbol: ARL2
disease_id: OMIM:619082
disease_name: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: CEP83
disease_id: OMIM:615862
disease_name: NEPHRONOPHTHISIS 18
gene_symbol: PRDX3
disease_id: OMIM:619871
disease_name: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: FYCO1
disease_id: OMIM:610019
disease_name: CATARACT 18
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: TUBA3D
disease_id: OMIM:617928
disease_name: KERATOCONUS 9
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: KRT10
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT1
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: MSTO1
disease_id: ORPHA:502423
disease_name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: DPP6
disease_id: OMIM:616311
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: MMP19
disease_id: OMIM:611543
disease_name: CAVITARY OPTIC DISC ANOMALIES