Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated genes and diseases:
gene_symbol: FKTN
disease_id: ORPHA:272
disease_name: Congenital muscular dystrophy, Fukuyama type
FCMD
FKTN-related congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
gene_symbol: FKTN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: FKTN
disease_id: OMIM:611615
disease_name: CARDIOMYOPATHY, DILATED, 1X
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: SDHA
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CAP2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: CAP2
disease_id: OMIM:620462
disease_name: CARDIOMYOPATHY, DILATED, 2I
gene_symbol: VEZF1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: VEZF1
disease_id: OMIM:620247
disease_name: CARDIOMYOPATHY, DILATED, 1OO
gene_symbol: ABCC9
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: ABCC9
disease_id: OMIM:608569
disease_name: CARDIOMYOPATHY, DILATED, 1O
gene_symbol: TPM1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: ANKRD1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: CRYAB
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: GET3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TTN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: TTN
disease_id: OMIM:604145
disease_name: CARDIOMYOPATHY, DILATED, 1G
gene_symbol: PLN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PLN
disease_id: OMIM:609909
disease_name: CARDIOMYOPATHY, DILATED, 1P
gene_symbol: PSEN2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: BAG5
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: MYBPC3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: LDB3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: FHL2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DMD
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DMD
disease_id: OMIM:302045
disease_name: CARDIOMYOPATHY, DILATED, 3B
gene_symbol: DMD
disease_id: OMIM:310200
disease_name: MUSCULAR DYSTROPHY, DUCHENNE TYPE
gene_symbol: DMD
disease_id: ORPHA:206546
disease_name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
gene_symbol: MYPN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: MYPN
disease_id: OMIM:615248
disease_name: CARDIOMYOPATHY, DILATED, 1KK
gene_symbol: DES
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DES
disease_id: OMIM:604765
disease_name: CARDIOMYOPATHY, DILATED, 1I
gene_symbol: DES
disease_id: OMIM:601419
disease_name: MYOPATHY, MYOFIBRILLAR, 1
gene_symbol: LMOD2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: TCAP
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: JPH2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: JPH2
disease_id: OMIM:619492
disease_name: CARDIOMYOPATHY, DILATED, 2E
gene_symbol: TAF1A
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PSEN1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: TMPO
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: HAND2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: MYH7
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: MYH7
disease_id: ORPHA:59135
disease_name: Laing distal myopathy
Distal myopathy type 1
MPD1
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: ACTN2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: VCL
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: VCL
disease_id: OMIM:611407
disease_name: CARDIOMYOPATHY, DILATED, 1W
gene_symbol: DSP
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: DSP
disease_id: ORPHA:65282
disease_name: Carvajal syndrome
KWWH type II
Keratoderma with woolly hair type II
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
gene_symbol: DSP
disease_id: OMIM:605676
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
gene_symbol: ACTC1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: RPL3L
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
gene_symbol: CSRP3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: CSRP3
disease_id: OMIM:607482
disease_name: CARDIOMYOPATHY, DILATED, 1M
gene_symbol: LMNA
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:610140
disease_name: HEART-HAND SYNDROME, SLOVENIAN TYPE
gene_symbol: LMNA
disease_id: ORPHA:98855
disease_name: Autosomal recessive Emery-Dreifuss muscular dystrophy
EDMD3
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: LMNA
disease_id: ORPHA:300751
disease_name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
gene_symbol: LMNA
disease_id: OMIM:212112
disease_name: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:168796
disease_name: Heart-hand syndrome, Slovenian type
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: TNNT2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: DSG2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DSG2
disease_id: OMIM:612877
disease_name: CARDIOMYOPATHY, DILATED, 1BB
gene_symbol: LAMA4
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: LAMA4
disease_id: OMIM:615235
disease_name: CARDIOMYOPATHY, DILATED, 1JJ
gene_symbol: PRDM16
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PRDM16
disease_id: OMIM:615373
disease_name: LEFT VENTRICULAR NONCOMPACTION 8
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: TXNRD2
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: BAG3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: BAG3
disease_id: OMIM:613881
disease_name: CARDIOMYOPATHY, DILATED, 1HH
gene_symbol: NEXN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: NEXN
disease_id: OMIM:613122
disease_name: CARDIOMYOPATHY, DILATED, 1CC
gene_symbol: PPCS
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: PPCS
disease_id: OMIM:618189
disease_name: CARDIOMYOPATHY, DILATED, 2C
gene_symbol: MYH6
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: MYH6
disease_id: OMIM:613252
disease_name: CARDIOMYOPATHY, DILATED, 1EE
gene_symbol: RBM20
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: RBM20
disease_id: OMIM:613172
disease_name: CARDIOMYOPATHY, DILATED, 1DD
gene_symbol: TNNI3
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TNNI3
disease_id: OMIM:611880
disease_name: CARDIOMYOPATHY, DILATED, 2A
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: TAFAZZIN
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TAFAZZIN
disease_id: ORPHA:111
disease_name: Barth syndrome
3-methylglutaconic aciduria type 2
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia syndrome
MGA2
X-linked cardioskeletal myopathy and neutropenia
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: DOLK
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: DOLK
disease_id: ORPHA:91131
disease_name: DK1-CDG
CDG syndrome type Im
CDG-Im
CDG1M
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Hypotonia and ichthyosis due to dolichol phosphate deficiency
gene_symbol: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: RAF1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: GATAD1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: GATAD1
disease_id: OMIM:614672
disease_name: CARDIOMYOPATHY, DILATED, 2B
gene_symbol: TNNC1
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: TNNC1
disease_id: OMIM:611879
disease_name: CARDIOMYOPATHY, DILATED, 1Z
gene_symbol: SGCD
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: SGCD
disease_id: OMIM:606685
disease_name: CARDIOMYOPATHY, DILATED, 1L
gene_symbol: SCN5A
disease_id: ORPHA:154
disease_name: Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: EYA4
disease_id: ORPHA:217622
disease_name: Sensorineural deafness with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy
gene_symbol: EYA4
disease_id: OMIM:605362
disease_name: CARDIOMYOPATHY, DILATED, 1J
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: HJV
disease_id: OMIM:602390
disease_name: HEMOCHROMATOSIS, TYPE 2A
gene_symbol: HJV
disease_id: ORPHA:79230
disease_name: HJV or HAMP-related hemochromatosis
Hemochromatosis type 2
Juvenile hemochromatosis
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: MT-ND1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND2
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND3
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND4
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TV
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ND5
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TK
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TK
disease_id: ORPHA:1349
disease_name: Mitochondrial DNA-related cardiomyopathy and hearing loss
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: CPT2
disease_id: OMIM:600649
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: FKRP
disease_id: OMIM:607155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
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: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: OMIM:618120
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: MEFV
disease_id: OMIM:608068
disease_name: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: TOP3A
disease_id: OMIM:618097
disease_name: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: TPM3
disease_id: OMIM:255310
disease_name: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
gene_symbol: TNNI3K
disease_id: OMIM:616117
disease_name: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: ACAD9
disease_id: OMIM:611126
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: SPEG
disease_id: OMIM:615959
disease_name: MYOPATHY, CENTRONUCLEAR, 5
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: 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: 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: 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: 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: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: ACTA1
disease_id: OMIM:161800
disease_name: NEMALINE MYOPATHY 3
gene_symbol: MGME1
disease_id: ORPHA:352447
disease_name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
gene_symbol: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: ADCY5
disease_id: OMIM:606703
disease_name: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
gene_symbol: ADCY5
disease_id: ORPHA:324588
disease_name: Familial dyskinesia and facial myokymia
FDFM
gene_symbol: FLII
disease_id: OMIM:620635
disease_name: CARDIOMYOPATHY, DILATED, 2J
gene_symbol: ERBB3
disease_id: OMIM:607598
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 2
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GATA5
disease_id: OMIM:617912
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: LIMS2
disease_id: OMIM:616827
disease_name: MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: DPM3
disease_id: ORPHA:263494
disease_name: DPM3-CDG
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
gene_symbol: DPM3
disease_id: OMIM:612937
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE1
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: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: HMGCL
disease_id: ORPHA:20
disease_name: 3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: HADH
disease_id: OMIM:231530
disease_name: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NUP107
disease_id: OMIM:616730
disease_name: NEPHROTIC SYNDROME, TYPE 11
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: SGCA
disease_id: OMIM:608099
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3
gene_symbol: CHKB
disease_id: OMIM:602541
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: ACAD8
disease_id: OMIM:611283
disease_name: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ACAD8
disease_id: ORPHA:79159
disease_name: Isobutyryl-CoA dehydrogenase deficiency
Isobutyric aciduria
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: SGCB
disease_id: OMIM:604286
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
gene_symbol: LAMP2
disease_id: ORPHA:34587
disease_name: Danon disease
GSD due to LAMP-2 deficiency
GSD, type 2B
GSD, type IIb
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease, type 2B
Glycogen storage disease, type IIb
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: NDUFB11
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
gene_symbol: COX7B
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: HCCS
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: KAT6B
disease_id: OMIM:603736
disease_name: OHDO SYNDROME, SBBYS VARIANT
gene_symbol: GTPBP3
disease_id: OMIM:616198
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
gene_symbol: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: HAMP
disease_id: ORPHA:79230
disease_name: HJV or HAMP-related hemochromatosis
Hemochromatosis type 2
Juvenile hemochromatosis
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: XK
disease_id: OMIM:300842
disease_name: MCLEOD SYNDROME
gene_symbol: ANKRD11
disease_id: ORPHA:261250
disease_name: 16q24.3 microdeletion syndrome
Del(16)(q24.3)
Monosomy 16q24.3
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: FHL1
disease_id: OMIM:300718
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: POMT2
disease_id: ORPHA:206559
disease_name: POMT2-related limb-girdle muscular dystrophy R14
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD type 2N
LGMD2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7