Phenotype: Abnormal myeloid leukocyte morphology (HP:0010974)
Associated genes and diseases:
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: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: HLA-B
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: 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: UHRF1
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: HELLS
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: DNMT3B
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: ZBTB24
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: LBR
disease_id: OMIM:169400
disease_name: PELGER-HUET ANOMALY
gene_symbol: AK2
disease_id: ORPHA:33355
disease_name: Reticular dysgenesis
AK2 deficiency
De Vaal disease
SCID with sensorineural deafness
SCID with sensorineural hearing loss
Severe combined immunodeficiency with sensorineural deafness
Severe combined immunodeficiency with sensorineural hearing loss
gene_symbol: CYBB
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF2
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBA
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF4
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBC1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: MMUT
disease_id: ORPHA:289916
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0
gene_symbol: MMUT
disease_id: ORPHA:79312
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: RFXAP
disease_id: OMIM:620817
disease_name: MHC CLASS II DEFICIENCY 4
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: RPS17
disease_id: OMIM:612527
disease_name: DIAMOND-BLACKFAN ANEMIA 4
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: SLC35A1
disease_id: ORPHA:238459
disease_name: SLC35A1-CDG
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: SAMD9
disease_id: OMIM:619041
disease_name: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: SRP54
disease_id: OMIM:618752
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
gene_symbol: SRP54
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:614082
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP G
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCB
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: ETV6
disease_id: OMIM:616216
disease_name: THROMBOCYTOPENIA 5
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: LMBRD1
disease_id: ORPHA:79284
disease_name: Methylmalonic acidemia with homocystinuria type cblF
CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
gene_symbol: CD79A
disease_id: OMIM:613501
disease_name: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE
gene_symbol: CD79A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: BLNK
disease_id: OMIM:613502
disease_name: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
gene_symbol: BLNK
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: DNAJC21
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: OMIM:617941
disease_name: SHWACHMAN-DIAMOND SYNDROME 2
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: SBDS
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
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: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: CD40
disease_id: OMIM:606843
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: CIITA
disease_id: OMIM:209920
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE II
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RPS7
disease_id: OMIM:612563
disease_name: DIAMOND-BLACKFAN ANEMIA 8
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: SLC30A7
disease_id: OMIM:620501
disease_name: ZIEGLER-HUANG SYNDROME
gene_symbol: IKBKG
disease_id: OMIM:301081
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: IGHM
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: RPL18
disease_id: OMIM:618310
disease_name: DIAMOND-BLACKFAN ANEMIA 18
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HSCB
disease_id: OMIM:619523
disease_name: ANEMIA, SIDEROBLASTIC, 5
gene_symbol: VPS45
disease_id: OMIM:615285
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: BTK
disease_id: ORPHA:47
disease_name: X-linked agammaglobulinemia
BTK-deficiency
Bruton type agammaglobulinemia
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: JAGN1
disease_id: OMIM:616022
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: TDP2
disease_id: OMIM:616949
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: OMIM:300835
disease_name: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: MAD2L2
disease_id: OMIM:617243
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP V
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: HAX1
disease_id: OMIM:610738
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE
gene_symbol: TCF3
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: CD79B
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: SPI1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: IGLL1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: PIK3R1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: PIK3R1
disease_id: OMIM:615214
disease_name: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
gene_symbol: LRRC8A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: DIAPH1
disease_id: ORPHA:494444
disease_name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: CSF3R
disease_id: OMIM:617014
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: TCN2
disease_id: ORPHA:859
disease_name: Transcobalamin deficiency
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: GINS1
disease_id: OMIM:617827
disease_name: IMMUNODEFICIENCY 55
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: FUT8
disease_id: OMIM:618005
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
gene_symbol: TFRC
disease_id: OMIM:616740
disease_name: IMMUNODEFICIENCY 46
gene_symbol: STAT4
disease_id: OMIM:620443
disease_name: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
gene_symbol: LAMTOR2
disease_id: ORPHA:90023
disease_name: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to P14 deficiency
Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
gene_symbol: LAMTOR2
disease_id: OMIM:610798
disease_name: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: MSN
disease_id: OMIM:300988
disease_name: IMMUNODEFICIENCY 50
gene_symbol: ATRX
disease_id: ORPHA:231401
disease_name: Alpha-thalassemia-myelodysplastic syndrome
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: FMO3
disease_id: OMIM:602079
disease_name: TRIMETHYLAMINURIA
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: IRAK4
disease_id: ORPHA:70592
disease_name: Transient predisposition to invasive pyogenic bacterial infection
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: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
gene_symbol: TFR2
disease_id: OMIM:604250
disease_name: HEMOCHROMATOSIS, TYPE 3
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: MDM4
disease_id: OMIM:618849
disease_name: BONE MARROW FAILURE SYNDROME 6
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: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: EIF2AK3
disease_id: ORPHA:1667
disease_name: Wolcott-Rallison syndrome
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
gene_symbol: THPO
disease_id: OMIM:620481
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2
gene_symbol: STAT3
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: PML
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: RARA
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: IRF2BP2
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: FIP1L1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: PRKAR1A
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: BCOR
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NABP1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: STAT5B
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NUMA1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: ZBTB16
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: TBL1XR1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: FBXW7
disease_id: OMIM:620012
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FAS
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: OMIM:603909
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
gene_symbol: TBX21
disease_id: OMIM:619630
disease_name: IMMUNODEFICIENCY 88
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:616651
disease_name: ROIFMAN SYNDROME
gene_symbol: PDGFRA
disease_id: OMIM:607685
disease_name: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: RAG1
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: RAG2
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CAPN3
disease_id: OMIM:253600
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: JAK1
disease_id: OMIM:618999
disease_name: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: CD3D
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD3E
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: SLC27A4
disease_id: ORPHA:88621
disease_name: Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4
IPS
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: BCL11B
disease_id: OMIM:618092
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: FCGR3B
disease_id: ORPHA:464370
disease_name: Neonatal alloimmune neutropenia
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: BCR
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: ABL1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: RUNX1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: NLRP3
disease_id: ORPHA:1451
disease_name: CINCA syndrome
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: RPS28
disease_id: OMIM:606164
disease_name: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: APOE
disease_id: OMIM:269600
disease_name: SEA-BLUE HISTIOCYTE DISEASE
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
gene_symbol: SPPL2A
disease_id: OMIM:619549
disease_name: IMMUNODEFICIENCY 86
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
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: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: LIPA
disease_id: ORPHA:75233
disease_name: Wolman disease
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: FTCD
disease_id: OMIM:229100
disease_name: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
gene_symbol: SFXN4
disease_id: OMIM:615578
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: RELB
disease_id: OMIM:617585
disease_name: IMMUNODEFICIENCY 53
gene_symbol: IL1RN
disease_id: OMIM:612852
disease_name: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
gene_symbol: TRAF3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: UNC93B1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TICAM1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TLR3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TBK1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: RAC2
disease_id: ORPHA:183707
disease_name: Infantile LAD-like disease due to RAC2 deficiency
Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
gene_symbol: GATA2
disease_id: ORPHA:228423
disease_name: GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: RPS14
disease_id: ORPHA:86841
disease_name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: RAB27A
disease_id: ORPHA:79477
disease_name: Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
gene_symbol: HAVCR2
disease_id: ORPHA:86884
disease_name: Subcutaneous panniculitis-like T-cell lymphoma
SPTCL
Subcutaneous panniculitic T-cell lymphoma
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: XIAP
disease_id: OMIM:300635
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: DNASE2
disease_id: OMIM:619858
disease_name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME
gene_symbol: SH2B3
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: JAK2
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: MPL
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: IFNG
disease_id: OMIM:618963
disease_name: IMMUNODEFICIENCY 69
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: OMIM:603552
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: TCIRG1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: SRP19
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: ELANE
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: GFI1
disease_id: OMIM:613107
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
gene_symbol: CLPB
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: EPX
disease_id: OMIM:261500
disease_name: EOSINOPHIL PEROXIDASE DEFICIENCY
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: ASAH1
disease_id: OMIM:228000
disease_name: FARBER LIPOGRANULOMATOSIS
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: CYP26C1
disease_id: ORPHA:398189
disease_name: Focal facial dermal dysplasia type IV
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: CXCR2
disease_id: OMIM:619407
disease_name: WHIM SYNDROME 2
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: PPIL1
disease_id: OMIM:619301
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 14
gene_symbol: CDC40
disease_id: OMIM:619302
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 15
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: MPO
disease_id: OMIM:254600
disease_name: MYELOPEROXIDASE DEFICIENCY