Phenotype: Scoliosis (HP:0002650)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: PIK3CA
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: PIK3CA
disease_id: OMIM:612918
disease_name: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: CBS
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: TBX5
disease_id: ORPHA:392
disease_name: Holt-Oram syndrome
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
gene_symbol: TBX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAPPC4
disease_id: OMIM:618741
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
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: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: RIPPLY2
disease_id: OMIM:616566
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
gene_symbol: RIPPLY2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: RIPPLY2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: CHRNA1
disease_id: OMIM:608930
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
gene_symbol: CHRNA1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: SPG7
disease_id: ORPHA:99013
disease_name: Spastic paraplegia type 7
SPG7
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: PRPS1
disease_id: ORPHA:99014
disease_name: X-linked Charcot-Marie-Tooth disease type 5
CMT5X
CMTX5
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SOX9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: DVL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
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: RPGRIP1L
disease_id: OMIM:611560
disease_name: JOUBERT SYNDROME 7
gene_symbol: RPGRIP1L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPHP1
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
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: TMEM237
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: 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: AFG2A
disease_id: OMIM:616577
disease_name: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: YWHAG
disease_id: OMIM:617665
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
gene_symbol: MEGF10
disease_id: OMIM:614399
disease_name: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
gene_symbol: AHI1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: AHI1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: INPP5E
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: INPP5E
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: INPP5E
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP120
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP120
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP120
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MKS1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: MKS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP41
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP41
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: POMK
disease_id: OMIM:615249
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
gene_symbol: EXT2
disease_id: ORPHA:466926
disease_name: Seizures-scoliosis-macrocephaly syndrome
SSM syndrome
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: EXT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
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: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: MYH7
disease_id: ORPHA:59135
disease_name: Laing distal myopathy
Distal myopathy type 1
MPD1
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: NSDHL
disease_id: OMIM:300831
disease_name: CK SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACVR1
disease_id: OMIM:135100
disease_name: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
gene_symbol: ACVR1
disease_id: ORPHA:337
disease_name: Fibrodysplasia ossificans progressiva
FOP
Myositis ossificans progressiva
Stone man syndrome
gene_symbol: ACVR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: RMRP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: CTSK
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
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: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis 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:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: CHST14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AFG2B
disease_id: OMIM:619616
disease_name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: IL6ST
disease_id: OMIM:618523
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
gene_symbol: IL6ST
disease_id: OMIM:619751
disease_name: STUVE-WIEDEMANN SYNDROME 2
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: IL6ST
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYBPC1
disease_id: OMIM:618524
disease_name: MYOPATHY, CONGENITAL, WITH TREMOR
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: TRPV4
disease_id: OMIM:113500
disease_name: BRACHYOLMIA TYPE 3
gene_symbol: TRPV4
disease_id: OMIM:600175
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
gene_symbol: TRPV4
disease_id: OMIM:168400
disease_name: PARASTREMMATIC DWARFISM
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRPV4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TRPV4
disease_id: ORPHA:2635
disease_name: Metatropic dysplasia
Metatropic dwarfism
gene_symbol: MYH2
disease_id: OMIM:605637
disease_name: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: RECQL4
disease_id: ORPHA:1225
disease_name: Baller-Gerold syndrome
gene_symbol: RECQL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FKRP
disease_id: ORPHA:34515
disease_name: FKRP-related limb-girdle muscular dystrophy R9
Autosomal recessive limb-girdle muscular dystrophy type 2I
FKRP-related LGMD R9
LGMD due to FKRP deficiency
LGMD type 2I
LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency
Limb-girdle muscular dystrophy type 2I
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FKRP
disease_id: OMIM:606612
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
gene_symbol: FKRP
disease_id: OMIM:607155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
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: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: FBN1
disease_id: OMIM:604308
disease_name: MASS SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: FBN1
disease_id: OMIM:129600
disease_name: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
gene_symbol: FBN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: PPP2R5D
disease_id: OMIM:616355
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCB1
disease_id: OMIM:614608
disease_name: COFFIN-SIRIS SYNDROME 3
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: DLL1
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: DLL1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: DLL1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: DLL1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: FGF8
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: FGF8
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: FGF8
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: FGF8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SIX3
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: SIX3
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: SIX3
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: SIX3
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: SIX3
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: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: TGIF1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: TGIF1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: TGIF1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: NODAL
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: NODAL
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: NODAL
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: SHH
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: SHH
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:280200
disease_name: Microform holoprosencephaly
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
gene_symbol: SHH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZIC2
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: ZIC2
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: ZIC2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: ZIC2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: 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: GAS1
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: GAS1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: GAS1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: GAS1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: DISP1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: DISP1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: DISP1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: GLI2
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: GLI2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: GLI2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: GLI2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FOXH1
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: FOXH1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: FOXH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: FOXH1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: CRIPTO
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: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: PTCH1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: PTCH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
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: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: PTCH1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: CDON
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: CDON
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: CDON
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: CDON
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: FGFR1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: FGFR1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
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: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGFR1
disease_id: ORPHA:2645
disease_name: Osteoglosphonic dysplasia
Osteoglophonic dwarfism
gene_symbol: PLCH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: STAG2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
gene_symbol: STAG2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
gene_symbol: TBCE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: NEFL
disease_id: OMIM:607684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: FLNA
disease_id: ORPHA:555877
disease_name: FLNA-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
Filamin A-related X-linked myxomatous valvular dysplasia
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: FLNA
disease_id: ORPHA:88630
disease_name: Terminal osseous dysplasia-pigmentary defects syndrome
gene_symbol: FLNA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNA
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1
gene_symbol: ADAMTS10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MPZ
disease_id: ORPHA:101082
disease_name: Charcot-Marie-Tooth disease type 1B
CMT1B
gene_symbol: MPZ
disease_id: OMIM:618184
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: MPZ
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: SGCG
disease_id: ORPHA:353
disease_name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
gene_symbol: SGCG
disease_id: OMIM:253700
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: DYNC2H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: AIFM1
disease_id: ORPHA:101078
disease_name: X-linked Charcot-Marie-Tooth disease type 4
CMT4X
CMTX4
Cowchock syndrome
gene_symbol: AIFM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: P4HB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:2307
disease_name: IVIC syndrome
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
gene_symbol: SALL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: MAP2K1
disease_id: OMIM:615279
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 3
gene_symbol: MAP2K1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: HK1
disease_id: OMIM:605285
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: PTEN
disease_id: ORPHA:109
disease_name: Bannayan-Riley-Ruvalcaba syndrome
BRRS
Myhre-Riley-Smith syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
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: SPEN
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: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
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: SKI
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: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: HSPG2
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: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
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: HSPG2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: RERE
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: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
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: GJB1
disease_id: ORPHA:101075
disease_name: X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: ACTA1
disease_id: OMIM:161800
disease_name: NEMALINE MYOPATHY 3
gene_symbol: ACTA1
disease_id: ORPHA:97244
disease_name: Rigid spine syndrome
Rigid spine congenital muscular dystrophy
gene_symbol: ACTA1
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
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: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: COMP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GUSB
disease_id: ORPHA:584
disease_name: Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
gene_symbol: GUSB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
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: 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: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: MAP2K2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: SBF1
disease_id: OMIM:615284
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
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: DDX59
disease_id: ORPHA:2919
disease_name: Orofaciodigital syndrome type 5
OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: DACT1
disease_id: OMIM:617466
disease_name: TOWNES-BROCKS SYNDROME 2
gene_symbol: DLG4
disease_id: OMIM:618793
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
gene_symbol: CAPRIN1
disease_id: OMIM:620636
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CANT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CANT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: ORPHA:376
disease_name: Gordon syndrome
Camptodactyly-cleft palate-clubfoot syndrome
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:114300
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 3
gene_symbol: PIEZO2
disease_id: OMIM:617146
disease_name: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
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: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
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: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
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:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
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: GPC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: VAMP1
disease_id: OMIM:618323
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: TGDS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGDS
disease_id: ORPHA:1388
disease_name: Catel-Manzke syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
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: FXN
disease_id: OMIM:601992
disease_name: FRIEDREICH ATAXIA 2
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:607225
disease_name: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: GLB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SMAD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: ALX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CREBBP
disease_id: ORPHA:592574
disease_name: Menke-Hennekam syndrome
gene_symbol: IFT172
disease_id: OMIM:616394
disease_name: RETINITIS PIGMENTOSA 71
gene_symbol: IFT172
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRUNE1
disease_id: OMIM:617481
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: RAC3
disease_id: OMIM:618577
disease_name: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: RAC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: ECEL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGHMBP2
disease_id: OMIM:616155
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
gene_symbol: RAD51
disease_id: OMIM:617244
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP R
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPTSSA
disease_id: OMIM:620416
disease_name: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT
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: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: B4GALNT1
disease_id: ORPHA:101006
disease_name: Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
SPG26
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: TRPS1
disease_id: ORPHA:77258
disease_name: Trichorhinophalangeal syndrome type 1
gene_symbol: TRPS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: POLE
disease_id: OMIM:618336
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
gene_symbol: POLE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAX7
disease_id: OMIM:618578
disease_name: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
gene_symbol: MANF
disease_id: OMIM:620651
disease_name: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: MYMK
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: GARS1
disease_id: OMIM:601472
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
gene_symbol: GARS1
disease_id: OMIM:619042
disease_name: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE
gene_symbol: FBN2
disease_id: ORPHA:115
disease_name: Congenital contractural arachnodactyly
Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:429
disease_name: Hypochondroplasia
gene_symbol: FGFR3
disease_id: ORPHA:85164
disease_name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
CATSHL syndrome
Camptodactyly-tall stature-scoliosis-deafness syndrome
gene_symbol: FGFR3
disease_id: OMIM:610474
disease_name: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SMAD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
gene_symbol: LONP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: DDR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: SELENON
disease_id: ORPHA:97244
disease_name: Rigid spine syndrome
Rigid spine congenital muscular dystrophy
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: SELENON
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: DDRGK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DDRGK1
disease_id: ORPHA:93352
disease_name: Spondyloepimetaphyseal dysplasia, Shohat type
SEMD, Shohat type
gene_symbol: DNM1L
disease_id: ORPHA:330050
disease_name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: SGSH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: RPL10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: CASK
disease_id: ORPHA:163937
disease_name: X-linked intellectual disability, Najm type
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
gene_symbol: CASK
disease_id: OMIM:300422
disease_name: FG SYNDROME 4
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: NEB
disease_id: OMIM:256030
disease_name: NEMALINE MYOPATHY 2
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
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: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SGCA
disease_id: OMIM:608099
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: LTBP3
disease_id: OMIM:601216
disease_name: DENTAL ANOMALIES AND SHORT STATURE
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: LTBP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BRF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: NACC1
disease_id: ORPHA:500545
disease_name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: BMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: XYLT2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A2
disease_id: OMIM:617821
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: ORPHA:1899
disease_name: Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: EMILIN1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:130060
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A1
disease_id: ORPHA:1899
disease_name: Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A1
disease_id: OMIM:619115
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1
gene_symbol: COL1A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL1A1
disease_id: ORPHA:1310
disease_name: Caffey disease
Infantile cortical hyperostosis
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SPARC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: SEC24D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: PLOD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: P3H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALPL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: SERPINH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: IFITM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: CRTAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: ORPHA:2078
disease_name: Geroderma osteodysplastica
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SGMS2
disease_id: OMIM:126550
disease_name: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: FKBP10
disease_id: OMIM:259450
disease_name: BRUCK SYNDROME 1
gene_symbol: FKBP10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FKBP10
disease_id: ORPHA:1149
disease_name: Kuskokwim syndrome
Arthrogryposis-like syndrome
Kuskokwim disease
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: XYLT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: SP7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: KDELR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: ORPHA:3206
disease_name: Stüve-Wiedemann syndrome
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
SWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: LIFR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:615220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XV
gene_symbol: WNT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GALT6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:301014
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIX
gene_symbol: MBTPS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: ORPHA:263463
disease_name: CHST3-related skeletal dysplasia
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
gene_symbol: CHST3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: PPIB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: POLR1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZDHHC9
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: UPF3B
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: MED12
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
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: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: ASAH1
disease_id: OMIM:159950
disease_name: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
gene_symbol: ASAH1
disease_id: ORPHA:2590
disease_name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
gene_symbol: GMPPB
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: GMPPB
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: OMIM:613150
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
gene_symbol: POMT2
disease_id: OMIM:613156
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:86812
disease_name: POMT1-related limb-girdle muscular dystrophy R11
Autosomal recessive limb-girdle muscular dystrophy type 2K
LGMD type 2K
LGMD2K
Limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
POMT1-related LGMD R11
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: MAPKBP1
disease_id: OMIM:617271
disease_name: NEPHRONOPHTHISIS 20
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: NFIX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: TK2
disease_id: ORPHA:254875
disease_name: Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
gene_symbol: GFM2
disease_id: ORPHA:565624
disease_name: Combined oxidative phosphorylation defect type 39
COXPD39
GFM2-related combined oxidative phosphorylation defect
gene_symbol: GFM2
disease_id: OMIM:618397
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: IHH
disease_id: ORPHA:63446
disease_name: Acrocapitofemoral dysplasia
gene_symbol: IHH
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: IHH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: LTBP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:85198
disease_name: Dysspondyloenchondromatosis
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: COL2A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL2A1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: ORPHA:93316
disease_name: Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
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: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: FLCN
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
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: RREB1
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: RREB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: TBX1
disease_id: ORPHA:1727
disease_name: 22q11.2 duplication syndrome
22q11.2 microduplication syndrome
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE 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: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: TNNI2
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: GNAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: 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: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: SYT2
disease_id: OMIM:619461
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE
gene_symbol: DDHD1
disease_id: ORPHA:101008
disease_name: Autosomal recessive spastic paraplegia type 28
SPG28
gene_symbol: DDHD1
disease_id: OMIM:609340
disease_name: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
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: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
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: 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: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
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: DOK7
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: TRIP11
disease_id: ORPHA:166272
disease_name: Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
gene_symbol: TRIP11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: KLHL7
disease_id: OMIM:617055
disease_name: PERCHING SYNDROME
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
gene_symbol: FOXG1
disease_id: OMIM:613454
disease_name: RETT SYNDROME, CONGENITAL VARIANT
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: MARS2
disease_id: ORPHA:314603
disease_name: Autosomal recessive spastic ataxia with leukoencephalopathy
ARSAL
Autosomal recessive spastic ataxia type 3
SPAX3
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: BRAF
disease_id: OMIM:613706
disease_name: NOONAN SYNDROME 7
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: FLNB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: FLNB
disease_id: ORPHA:3275
disease_name: Spondylocarpotarsal synostosis
Synspondylism
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
gene_symbol: FLNB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNB
disease_id: OMIM:108721
disease_name: ATELOSTEOGENESIS, TYPE III
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: RTL1
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
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: RTL1
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: DLK1
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
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: DLK1
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: MEG3
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
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: MEG3
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: DNAJC6
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: PODXL
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: SYNJ1
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
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: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: INPPL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIP4
disease_id: OMIM:617066
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
gene_symbol: TRIP4
disease_id: ORPHA:486815
disease_name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy, Davignon-Chauveau type
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
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: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: CDC45
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXOC6B
disease_id: OMIM:618395
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
gene_symbol: EXOC6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: MYF5
disease_id: OMIM:618155
disease_name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
gene_symbol: FHL1
disease_id: OMIM:300718
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
gene_symbol: FHL1
disease_id: OMIM:300717
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
gene_symbol: FHL1
disease_id: OMIM:300696
disease_name: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: DDX3X
disease_id: ORPHA:457260
disease_name: X-linked intellectual disability-hypotonia-movement disorder syndrome
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: TRMT10A
disease_id: OMIM:616033
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: TPM2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM2
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
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: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: SLC26A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC26A2
disease_id: OMIM:226900
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
gene_symbol: CHST11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACTB
disease_id: OMIM:604919
disease_name: BECKER NEVUS SYNDROME
gene_symbol: ACTB
disease_id: ORPHA:64755
disease_name: Becker nevus syndrome
Becker melanosis
Becker naevus syndrome
Pigmentary hairy epidermal nevus
Pigmented hairy epidermal naevus
Pigmented hairy epidermal nevus
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
gene_symbol: SLC9A6
disease_id: ORPHA:85278
disease_name: Christianson syndrome
X-linked Angelman-like syndrome
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: FARSA
disease_id: OMIM:619013
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
gene_symbol: PHF8
disease_id: ORPHA:85287
disease_name: X-linked intellectual disability, Siderius type
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: PYCR1
disease_id: ORPHA:2078
disease_name: Geroderma osteodysplastica
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: PYCR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CACNA1S
disease_id: OMIM:620246
disease_name: CONGENITAL MYOPATHY 18
gene_symbol: ANO5
disease_id: ORPHA:53697
disease_name: Gnathodiaphyseal dysplasia
GDD
gene_symbol: ANO5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: NMNAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NUS1
disease_id: OMIM:617082
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: MFN2
disease_id: OMIM:617087
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
gene_symbol: MFN2
disease_id: OMIM:609260
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: SLC35A3
disease_id: ORPHA:370943
disease_name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
SLC35A3-CDG
gene_symbol: SLC35A3
disease_id: OMIM:615553
disease_name: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: TRAPPC2
disease_id: OMIM:313400
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
gene_symbol: TRAPPC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GCH1
disease_id: OMIM:128230
disease_name: DYSTONIA, DOPA-RESPONSIVE
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: CLCN4
disease_id: ORPHA:485350
disease_name: CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome
gene_symbol: FLAD1
disease_id: OMIM:255100
disease_name: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
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: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: TNNT1
disease_id: OMIM:620386
disease_name: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET
gene_symbol: VANGL1
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: FUZ
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: FUZ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC52A2
disease_id: OMIM:614707
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 2
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: NSD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL12A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL12A1
disease_id: ORPHA:536516
disease_name: Myopathic Ehlers-Danlos syndrome
EDS/myopathy overlap syndrome
Myopathic EDS
gene_symbol: COL12A1
disease_id: OMIM:616471
disease_name: BETHLEM MYOPATHY 2
gene_symbol: COL12A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A2
disease_id: OMIM:620727
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
gene_symbol: COL6A2
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: POR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: ALDH3A2
disease_id: ORPHA:816
disease_name: Sjögren-Larsson syndrome
Fatty acid alcohol oxidoreductase deficiency
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: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: ERMARD
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: LRP4
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: LRP4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
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: OMIM:300844
disease_name: MENTAL RETARDATION, X-LINKED 19
gene_symbol: RPS6KA3
disease_id: ORPHA:276630
disease_name: Symptomatic form of Coffin-Lowry syndrome in female carriers
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: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
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: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: KAT6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: RYR1
disease_id: OMIM:117000
disease_name: CENTRAL CORE DISEASE OF MUSCLE
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
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: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
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: 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: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC4
disease_id: OMIM:610965
disease_name: XFE PROGEROID SYNDROME
gene_symbol: ERCC4
disease_id: OMIM:278760
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
gene_symbol: SFRP4
disease_id: OMIM:265900
disease_name: PYLE DISEASE
gene_symbol: SFRP4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: CAPN1
disease_id: ORPHA:488594
disease_name: Autosomal recessive spastic paraplegia type 76
SPG76
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: SCUBE3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TTPA
disease_id: ORPHA:96
disease_name: Ataxia with vitamin E deficiency
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
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: HACE1
disease_id: OMIM:616756
disease_name: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: TPM3
disease_id: OMIM:255310
disease_name: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
gene_symbol: TPM3
disease_id: OMIM:609284
disease_name: NEMALINE MYOPATHY 1
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: DCX
disease_id: ORPHA:2148
disease_name: Lissencephaly type 1 due to doublecortin gene mutation
X-linked lissencephaly type 1
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: ATP6V0A2
disease_id: OMIM:219200
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
gene_symbol: ATP6V0A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
gene_symbol: ERLIN2
disease_id: OMIM:620512
disease_name: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: AGA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: NSD2
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:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN 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: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
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: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
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: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: IDUA
disease_id: OMIM:607015
disease_name: HURLER-SCHEIE SYNDROME
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: IDUA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: HS2ST1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN 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: DPAGT1
disease_id: OMIM:614750
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 13
gene_symbol: DPAGT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: NEK9
disease_id: ORPHA:64754
disease_name: Nevus comedonicus syndrome
gene_symbol: NEK9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: SYNE1
disease_id: ORPHA:319332
disease_name: Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: SYNE1
disease_id: OMIM:618484
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
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: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZC4H2
disease_id: ORPHA:3454
disease_name: Wieacker-Wolff syndrome
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: ZC4H2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
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: 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: IGF2
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: IGF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KCNQ1OT1
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: H19
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: H19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: FZD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: UFSP2
disease_id: ORPHA:2114
disease_name: Hip dysplasia, Beukes type
BFHD
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
gene_symbol: UFSP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: EZH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFBR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: ATR
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: ATR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CENPE
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CENPE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CPAP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CPAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PCNT
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PCNT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: RBBP8
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: RBBP8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNA2
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: DNA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP152
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: CEP152
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLK4
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PLK4
disease_id: ORPHA:2518
disease_name: Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
gene_symbol: PLK4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: NPR2
disease_id: ORPHA:40
disease_name: Acromesomelic dysplasia, Maroteaux type
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: NPR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: PUS1
disease_id: ORPHA:2598
disease_name: Mitochondrial myopathy and sideroblastic anemia
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
gene_symbol: YARS2
disease_id: ORPHA:2598
disease_name: Mitochondrial myopathy and sideroblastic anemia
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: EBP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: CLCN7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: HES7
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: HES7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF3
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: GDF3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF6
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: GDF6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF6
disease_id: OMIM:118100
disease_name: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: MEOX1
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: MEOX1
disease_id: OMIM:214300
disease_name: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: MEOX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: ITGA7
disease_id: OMIM:613204
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: KIF5A
disease_id: ORPHA:100991
disease_name: Autosomal dominant spastic paraplegia type 10
SPG10
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: TREX1
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: IFIH1
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: IFIH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: LEMD3
disease_id: OMIM:166700
disease_name: BUSCHKE-OLLENDORFF SYNDROME
gene_symbol: LEMD3
disease_id: ORPHA:94063
disease_name: 12q14 microdeletion syndrome
Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome
gene_symbol: LEMD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
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: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: FGD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMC1A
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: ANKRD11
disease_id: ORPHA:261250
disease_name: 16q24.3 microdeletion syndrome
Del(16)(q24.3)
Monosomy 16q24.3
gene_symbol: ANKRD11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: DNMT3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RSPRY1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: TANC2
disease_id: OMIM:618906
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: SHOX
disease_id: OMIM:127300
disease_name: LERI-WEILL DYSCHONDROSTEOSIS
gene_symbol: SHOX
disease_id: ORPHA:314795
disease_name: SHOX-related short stature
gene_symbol: SHOX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: LMX1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDCD10
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: CCM2
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: KRIT1
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: SORD
disease_id: OMIM:618912
disease_name: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: CDC42
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:619825
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 12
gene_symbol: THSD4
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FKBP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: ORPHA:2500
disease_name: Acrogeria
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
gene_symbol: COL3A1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: PLOD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: NPR3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: LOX
disease_id: OMIM:617168
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 10
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: BGN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:617602
disease_name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: STAT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCA4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ARID1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: TBX6
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: TBX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX6
disease_id: OMIM:122600
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 5
gene_symbol: TBX6
disease_id: ORPHA:1797
disease_name: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
gene_symbol: DLL3
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: DLL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LFNG
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: LFNG
disease_id: OMIM:609813
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
gene_symbol: LFNG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MESP2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: MESP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC25A46
disease_id: OMIM:616505
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
gene_symbol: NRXN1
disease_id: OMIM:614325
disease_name: PITT-HOPKINS-LIKE SYNDROME 2
gene_symbol: NALCN
disease_id: OMIM:615419
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
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: NALCN
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ESCO2
disease_id: ORPHA:2319
disease_name: Juberg-Hayward syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
gene_symbol: ESCO2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: TMEM231
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM138
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: CEP290
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: CEP290
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: TMEM216
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CC2D2A
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: CC2D2A
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: CC2D2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CC2D2A
disease_id: OMIM:612285
disease_name: JOUBERT SYNDROME 9
gene_symbol: HPGD
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: HPGD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: SLCO2A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:616516
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMNA
disease_id: ORPHA:98855
disease_name: Autosomal recessive Emery-Dreifuss muscular dystrophy
EDMD3
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: NKAP
disease_id: OMIM:301039
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
gene_symbol: CIC
disease_id: OMIM:617600
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
gene_symbol: TMEM67
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: TMEM67
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM67
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLEKHG5
disease_id: OMIM:611067
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
gene_symbol: PLEKHG5
disease_id: OMIM:615376
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: RUNX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: AMER1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: AMER1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: FUCA1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: CENPT
disease_id: OMIM:618702
disease_name: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: COLQ
disease_id: OMIM:603034
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 5
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: SCN4A
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
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: COL13A1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRND
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AK9
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: LMNB2
disease_id: OMIM:616540
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 9
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: STAG1
disease_id: ORPHA:502434
disease_name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
gene_symbol: RPL13
disease_id: OMIM:618728
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
gene_symbol: RPL13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
gene_symbol: RAC1
disease_id: OMIM:617751
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
gene_symbol: TUBGCP6
disease_id: ORPHA:2518
disease_name: Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
gene_symbol: TUBGCP4
disease_id: ORPHA:2518
disease_name: Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
gene_symbol: MYH3
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: MYH3
disease_id: OMIM:618436
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B3
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: MYH3
disease_id: OMIM:618469
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: MYH3
disease_id: ORPHA:3275
disease_name: Spondylocarpotarsal synostosis
Synspondylism
gene_symbol: MYH3
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: MYH3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYH3
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
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: RAB3GAP1
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB3GAP1
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf 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: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CSGALNACT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: GAN
disease_id: ORPHA:643
disease_name: Giant axonal neuropathy
GAN
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: DHX37
disease_id: OMIM:618731
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
gene_symbol: DPP6
disease_id: OMIM:616311
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
gene_symbol: ROBO3
disease_id: ORPHA:2744
disease_name: Horizontal gaze palsy with progressive scoliosis
HGPPS
Progressive external ophthalmoplegia and scoliosis
gene_symbol: DCC
disease_id: ORPHA:2744
disease_name: Horizontal gaze palsy with progressive scoliosis
HGPPS
Progressive external ophthalmoplegia and scoliosis
gene_symbol: DCC
disease_id: OMIM:617542
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: INPP5K
disease_id: OMIM:617404
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
gene_symbol: COL9A1
disease_id: OMIM:614134
disease_name: STICKLER SYNDROME, TYPE IV
gene_symbol: COL9A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: ARX
disease_id: ORPHA:2508
disease_name: Corpus callosum agenesis-abnormal genitalia syndrome
ACC-abnormal genitalia syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Proud syndrome
Proud-Levine-Carpenter syndrome
gene_symbol: ARX
disease_id: OMIM:300004
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: MMP13
disease_id: ORPHA:2501
disease_name: Metaphyseal chondrodysplasia, Spahr type
gene_symbol: MMP13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
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:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
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: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: EFNB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NAA20
disease_id: OMIM:619717
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: TRAPPC11
disease_id: ORPHA:369847
disease_name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
gene_symbol: TCF12
disease_id: OMIM:619718
disease_name: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA
gene_symbol: TCF12
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CUL7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: CFAP410
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LSS
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: AHSG
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: ITGB6
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: SMCHD1
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: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
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: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
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: GNPTG
disease_id: OMIM:252605
disease_name: MUCOLIPIDOSIS III GAMMA
gene_symbol: GNPTG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: ACP5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTH1R
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: PTH1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH2
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: IDH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH2
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH1
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: IDH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH1
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: KIF22
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
gene_symbol: PRORP
disease_id: OMIM:619737
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: IARS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ABHD16A
disease_id: OMIM:619735
disease_name: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
gene_symbol: DEGS1
disease_id: OMIM:618404
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 18
gene_symbol: PISD
disease_id: OMIM:618889
disease_name: LIBERFARB SYNDROME
gene_symbol: PISD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: ALG2
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: NXN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON 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: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NKX6-2
disease_id: ORPHA:527497
disease_name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
SPAX8
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: POLD1
disease_id: OMIM:615381
disease_name: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
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: ACTN2
disease_id: OMIM:618654
disease_name: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
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: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: ANKRD17
disease_id: OMIM:619504
disease_name: CHOPRA-AMIEL-GORDON SYNDROME
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: GNPTAB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
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: KIAA0753
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDE6D
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: 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: OFD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: CPLANE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: HYLS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: KIAA0586
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0586
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCTN3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCTN2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: ARMC9
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TOGARAM1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CBY1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: 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: SMG9
disease_id: OMIM:619995
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
gene_symbol: COL27A1
disease_id: OMIM:615155
disease_name: STEEL SYNDROME
gene_symbol: COL27A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
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: GGPS1
disease_id: OMIM:619518
disease_name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: GABBR1
disease_id: OMIM:620502
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: MTMR2
disease_id: OMIM:601382
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: IKBKG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG1
disease_id: ORPHA:79327
disease_name: ALG1-CDG
CDG syndrome type Ik
CDG-Ik
CDG1K
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Mannosyltransferase 1 deficiency
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: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: PRDM13
disease_id: OMIM:619761
disease_name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: KY
disease_id: OMIM:617114
disease_name: MYOPATHY, MYOFIBRILLAR, 7
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
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: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: OMIM:614434
disease_name: CUTIS LAXA, AUTOSOMAL DOMINANT 2
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
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: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: ALG12
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: DLX5
disease_id: OMIM:220600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
gene_symbol: DLX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: PRKD1
disease_id: OMIM:617364
disease_name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
gene_symbol: PSAT1
disease_id: OMIM:616038
disease_name: NEU-LAXOVA SYNDROME 2
gene_symbol: PSAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: SYT1
disease_id: OMIM:618218
disease_name: BAKER-GORDON SYNDROME
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PIGA
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: AP1S2
disease_id: ORPHA:85335
disease_name: Fried syndrome
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: HDAC4
disease_id: OMIM:619797
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: HDAC4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: ZNF407
disease_id: OMIM:619557
disease_name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
gene_symbol: DMD
disease_id: OMIM:310200
disease_name: MUSCULAR DYSTROPHY, DUCHENNE TYPE
gene_symbol: DMD
disease_id: ORPHA:98896
disease_name: Duchenne muscular dystrophy
DMD
Severe dystrophinopathy, Duchenne type
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: SCN1A
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: OMIM:617904
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
gene_symbol: SLC5A7
disease_id: OMIM:617143
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: RIGI
disease_id: OMIM:616298
disease_name: SINGLETON-MERTEN SYNDROME 2
gene_symbol: RIGI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NDUFAF5
disease_id: OMIM:618238
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
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: NDUFA12
disease_id: OMIM:618244
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
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: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: EXOSC5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FOXRED1
disease_id: OMIM:618241
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: MARS1
disease_id: OMIM:620323
disease_name: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE
gene_symbol: ADAMTSL2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: ADAMTSL2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ADAMTS2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
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: TBX4
disease_id: ORPHA:261279
disease_name: 17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
gene_symbol: TBX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HMGA2
disease_id: ORPHA:94063
disease_name: 12q14 microdeletion syndrome
Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome
gene_symbol: HMGA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
gene_symbol: LYSET
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: ATN1
disease_id: OMIM:618494
disease_name: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PRKAR1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: LTBP4
disease_id: ORPHA:98896
disease_name: Duchenne muscular dystrophy
DMD
Severe dystrophinopathy, Duchenne type
gene_symbol: TTI2
disease_id: ORPHA:391307
disease_name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
gene_symbol: TTI2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL10A1
disease_id: OMIM:156500
disease_name: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
gene_symbol: COL10A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: GNPNAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: C1S
disease_id: OMIM:617174
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
gene_symbol: MYL11
disease_id: OMIM:619110
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1C
gene_symbol: MYL11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POU4F1
disease_id: OMIM:619352
disease_name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: SH3PXD2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNAQ
disease_id: ORPHA:624
disease_name: Familial multiple nevi flammei
Familial multiple port-wine stains
gene_symbol: TTC21B
disease_id: OMIM:613819
disease_name: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TTC21B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: RAB23
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
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: GBA2
disease_id: ORPHA:352641
disease_name: Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
gene_symbol: PAX6
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: 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: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NDP
disease_id: ORPHA:649
disease_name: Norrie disease
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
gene_symbol: OXR1
disease_id: OMIM:213000
disease_name: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: PMP22
disease_id: ORPHA:640
disease_name: Hereditary neuropathy with liability to pressure palsies
Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
gene_symbol: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: PMP22
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: PPP1R21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHACTR1
disease_id: OMIM:618298
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: SPRED1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VDR
disease_id: ORPHA:93160
disease_name: Hypocalcemic vitamin D-resistant rickets
HVDRR
Hereditary vitamin D-resistant rickets
VDDR II
VDRR II
Vitamin D-dependent rickets type II
Vitamin D-resistant rickets type II
gene_symbol: VDR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SF3B4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: SCN2A
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC12A5
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: PLCB1
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: KCNQ2
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: KCNT1
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC25A22
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: TBC1D24
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: CHKA
disease_id: OMIM:620023
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
gene_symbol: PDZD8
disease_id: OMIM:620021
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: GNPAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: OMIM:615731
disease_name: NEMALINE MYOPATHY 9
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:2289
disease_name: Neuronal intranuclear inclusion disease
gene_symbol: GDF5
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: GDF5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF5
disease_id: ORPHA:968
disease_name: Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dwarfism
gene_symbol: BMPR1B
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: BMPR1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GFPT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG14
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: COX8A
disease_id: OMIM:619059
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: AFF3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MATN3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCN6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: CDKN1C
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBM8A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBM8A
disease_id: ORPHA:3320
disease_name: Thrombocytopenia-absent radius syndrome
TAR syndrome
gene_symbol: ALG3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHSY1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTDSS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: SLC34A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: CDT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT80
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC25A24
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: HDAC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FERMT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXD13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPPC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BTRC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DONSON
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SRCAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GSC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: CCNQ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EOGT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MTAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PKDCC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFSF11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR35
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FIG4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCAL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPM1D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCOF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CILK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBPJ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOTCH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDE3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NKX3-2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: TNFRSF11A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IKBKB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNLT2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SETD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SBDS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOST
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL2RG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NIPBL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CSF1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT43
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FN1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: TRPV6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYO18B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INTU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OTX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NAGLU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEMA3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAT5B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP2R1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MEGF8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC73
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAFB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ENPP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBXW4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PSMB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: XRCC4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GH1
disease_id: OMIM:173100
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II
gene_symbol: RSPO2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT10B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNX10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF23
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCIRG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EFTUD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: POU1F1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: EVC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM20B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EDN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARCN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SCARF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PNPLA6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NANS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLI3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERF
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLAG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLEKHM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC39A13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LAMA5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT140
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: PUF60
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: SULF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SH3BP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MIR140
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBXAS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GINS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GMNN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DHODH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM20C
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGSF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPCD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAPPA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EIF4A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DHCR24
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CLCN5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLCB3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STIM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR1D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2LI1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZMPSTE24
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SATB2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL11A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLCB4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT122
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAD21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TREM2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EFL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTHLH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKG2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LBX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ANKH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLCO5A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNAI3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2I1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RALA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TONSL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: COL11A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHOC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MET
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOTCH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: ARHGAP31
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSMCE2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIK3R1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35D1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CKAP2L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NEK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: TNFRSF11B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RNPC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAM16
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CRIPT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KYNU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHEX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SUMF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT7A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HSPA9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TAB2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: THPO
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: THPO
disease_id: ORPHA:3319
disease_name: Congenital amegakaryocytic thrombocytopenia
CAMT
gene_symbol: MYCN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ORC4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COG4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHRHR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PITX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIM37
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXA11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POC1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HAAO
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAF3IP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPECC1L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX15
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALMS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: PITX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CTSA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1CB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: ALG9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SALL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MANBA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR1C
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AMMECR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MNX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZSWIM6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXA13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIF7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT52
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ANTXR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDH3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMOC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RNU4ATAC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAPK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: VPS33A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SRP54
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OSTM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXTL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LPIN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNAJC21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COLEC11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: IFT81
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EDNRA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LBR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MECOM
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AGPS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ADAMTS17
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KMT2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: FMN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VAC14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAPSS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNRPB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: SLC17A5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MSX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ID4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BTK
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MGP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACAN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBLN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35C1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: NIN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GJA1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPR161
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BHLHA9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EVC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ORC1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROKR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2I2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BPNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CASR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ORC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRRK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EIF2AK3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGFALS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TYROBP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZBTB16
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHSR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K20
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K20
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MAP3K20
disease_id: OMIM:617760
disease_name: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
gene_symbol: SOX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HGSNAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAN2B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DVL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
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: HESX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM111A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LTBP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM165
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NADSYN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GCM2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMPER
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAB33B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPINK5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NLRP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DOCK6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MCM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC29A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP26B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RASGRP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP27B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHGDH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYM
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: IL1RN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BIN1
disease_id: OMIM:255200
disease_name: MYOPATHY, CENTRONUCLEAR, 2
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
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: SETD5
disease_id: OMIM:615761
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
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: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: FAM111B
disease_id: OMIM:615704
disease_name: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
gene_symbol: FGD4
disease_id: OMIM:609311
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
gene_symbol: ARF1
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: MAP1B
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: NEDD4L
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: TMTC3
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: ARFGEF2
disease_id: ORPHA:98892
disease_name: Periventricular nodular heterotopia
PVNH
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
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: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: TNNT3
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: MYPN
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: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: HSPB8
disease_id: OMIM:608673
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
gene_symbol: HSPD1
disease_id: ORPHA:100994
disease_name: Autosomal dominant spastic paraplegia type 13
SPG13
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: PRX
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: MPL
disease_id: ORPHA:3319
disease_name: Congenital amegakaryocytic thrombocytopenia
CAMT
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: EGR2
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
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: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: KCNA1
disease_id: ORPHA:37612
disease_name: Episodic ataxia type 1
Episodic ataxia with myokymia
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: MYMX
disease_id: OMIM:619941
disease_name: CAREY-FINEMAN-ZITER SYNDROME 2
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: USP7
disease_id: ORPHA:500055
disease_name: Hao-Fountain syndrome due to 16p13.2 microdeletion
Chromosome 16p13.2 deletion syndrome
Del(16)(p13.2)
Monosomy 16p13.2
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: ATP2B1
disease_id: OMIM:619910
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
gene_symbol: GFAP
disease_id: ORPHA:363722
disease_name: Alexander disease type II
AxD type II
gene_symbol: GFAP
disease_id: ORPHA:363717
disease_name: Alexander disease type I
AxD type I
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: HSD17B4
disease_id: OMIM:233400
disease_name: PERRAULT SYNDROME 1
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI 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: GNA11
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: SLC6A1
disease_id: OMIM:616421
disease_name: MYOCLONIC-ATONIC EPILEPSY
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: IRF6
disease_id: ORPHA:1300
disease_name: Autosomal dominant popliteal pterygium syndrome
Facio-genito-popliteal syndrome
Popliteal web syndrome
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: SPTBN4
disease_id: OMIM:617519
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: CLCF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: CRLF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
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: USB1
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: NOP10
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: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: DKC1
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: 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: KMT2C
disease_id: OMIM:617768
disease_name: KLEEFSTRA SYNDROME 2
gene_symbol: GOSR2
disease_id: OMIM:614018
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
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: 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: FOXE3
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: 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: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: PNKP
disease_id: ORPHA:459033
disease_name: Ataxia-oculomotor apraxia type 4
AOA4
gene_symbol: H1-4
disease_id: OMIM:617537
disease_name: RAHMAN SYNDROME
gene_symbol: JPH1
disease_id: OMIM:607831
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
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: CLIC2
disease_id: ORPHA:324410
disease_name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: RBM28
disease_id: ORPHA:157954
disease_name: ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
gene_symbol: RBM28
disease_id: OMIM:612079
disease_name: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: SLC1A2
disease_id: OMIM:617105
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: NEMF
disease_id: OMIM:619099
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY
gene_symbol: NDRG1
disease_id: ORPHA:99950
disease_name: Charcot-Marie-Tooth disease type 4D
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
gene_symbol: NDRG1
disease_id: OMIM:601455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: GLS
disease_id: OMIM:618339
disease_name: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NDUFS3
disease_id: OMIM:618230
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: ERCC2
disease_id: OMIM:610756
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 2
gene_symbol: FUT8
disease_id: OMIM:618005
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: ATAD1
disease_id: OMIM:618011
disease_name: HYPEREKPLEXIA 4
gene_symbol: CRPPA
disease_id: ORPHA:370980
disease_name: Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: WDR45B
disease_id: OMIM:617977
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: WDR11
disease_id: OMIM:620237
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
gene_symbol: SLITRK2
disease_id: OMIM:301107
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111
gene_symbol: MAPT
disease_id: OMIM:260540
disease_name: PARKINSON-DEMENTIA SYNDROME
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: ERLIN1
disease_id: ORPHA:401785
disease_name: Autosomal recessive spastic paraplegia type 62
SPG62
gene_symbol: ERLIN1
disease_id: OMIM:615681
disease_name: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
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: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: RAB5IF
disease_id: OMIM:616994
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: AP1G1
disease_id: OMIM:619548
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
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: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: DES
disease_id: ORPHA:98909
disease_name: Desminopathy
Desmin-related myofibrillar myopathy
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy