Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
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: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: RRAS2
disease_id: OMIM:618624
disease_name: NOONAN SYNDROME 12
gene_symbol: STAT4
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: STAT4
disease_id: OMIM:620443
disease_name: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
gene_symbol: SPP1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: SAT1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: IRAK1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: UNC119
disease_id: OMIM:615518
disease_name: IMMUNODEFICIENCY 13
gene_symbol: TPP2
disease_id: ORPHA:444463
disease_name: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II
Evans syndrome associated with primary immunodeficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: FCHO1
disease_id: OMIM:619164
disease_name: IMMUNODEFICIENCY 76
gene_symbol: CORO1A
disease_id: OMIM:615401
disease_name: IMMUNODEFICIENCY 8
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: TINF2
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERC
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: GINS1
disease_id: OMIM:617827
disease_name: IMMUNODEFICIENCY 55
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: ELANE
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: NHEJ1
disease_id: ORPHA:169079
disease_name: Cernunnos-XLF deficiency
Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency
gene_symbol: ADA2
disease_id: OMIM:182410
disease_name: SNEDDON SYNDROME
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
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: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
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: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: MSN
disease_id: OMIM:300988
disease_name: IMMUNODEFICIENCY 50
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
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: DNMT3B
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: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
gene_symbol: NAE1
disease_id: OMIM:620210
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
gene_symbol: TTI2
disease_id: ORPHA:391307
disease_name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: ADAMTS3
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: CCBE1
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: FAT4
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: IL7
disease_id: OMIM:618309
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: TFR2
disease_id: OMIM:604250
disease_name: HEMOCHROMATOSIS, TYPE 3
gene_symbol: TLR7
disease_id: OMIM:301080
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 17
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: TCN2
disease_id: ORPHA:859
disease_name: Transcobalamin deficiency
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
gene_symbol: MDM4
disease_id: OMIM:618849
disease_name: BONE MARROW FAILURE SYNDROME 6
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: NAF1
disease_id: OMIM:620365
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
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: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: CLPB
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: SLC17A5
disease_id: OMIM:604369
disease_name: SALLA DISEASE
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: PNPLA2
disease_id: ORPHA:565612
disease_name: Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: PIK3R1
disease_id: OMIM:615214
disease_name: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: CD79A
disease_id: OMIM:613501
disease_name: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE
gene_symbol: IGLL1
disease_id: OMIM:613500
disease_name: AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE
gene_symbol: BLNK
disease_id: OMIM:613502
disease_name: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: CD4
disease_id: OMIM:613949
disease_name: OKT4 EPITOPE DEFICIENCY
gene_symbol: CD79B
disease_id: OMIM:612692
disease_name: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
gene_symbol: HELLS
disease_id: OMIM:616911
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
gene_symbol: CDCA7
disease_id: OMIM:616910
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: CD3D
disease_id: OMIM:615617
disease_name: IMMUNODEFICIENCY 19
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: ZAP70
disease_id: OMIM:269840
disease_name: IMMUNODEFICIENCY 48
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
gene_symbol: JAK3
disease_id: ORPHA:35078
disease_name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
gene_symbol: RELB
disease_id: OMIM:617585
disease_name: IMMUNODEFICIENCY 53
gene_symbol: RFXAP
disease_id: OMIM:620817
disease_name: MHC CLASS II DEFICIENCY 4
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: KLHDC8B
disease_id: OMIM:236000
disease_name: LYMPHOMA, HODGKIN, CLASSIC
gene_symbol: TNFRSF13B
disease_id: OMIM:609529
disease_name: IMMUNOGLOBULIN A DEFICIENCY 2
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
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: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RECQL4
disease_id: ORPHA:3021
disease_name: RAPADILINO syndrome
gene_symbol: FOXN1
disease_id: OMIM:601705
disease_name: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: FOXN1
disease_id: OMIM:618806
disease_name: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: FOXN1
disease_id: ORPHA:169095
disease_name: Severe combined immunodeficiency due to FOXN1 deficiency
Alymphoid cystic thymic dysgenesis
Nude/SCID
Nude/severe combined immunodeficiency
SCID due to FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency
gene_symbol: RFX5
disease_id: OMIM:620816
disease_name: MHC CLASS II DEFICIENCY 3
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: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
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: 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: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: CARD11
disease_id: OMIM:616452
disease_name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
gene_symbol: CD8A
disease_id: OMIM:608957
disease_name: CD8 DEFICIENCY, FAMILIAL
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: IKZF3
disease_id: OMIM:619437
disease_name: IMMUNODEFICIENCY 84
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: TCF3
disease_id: OMIM:616941
disease_name: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
gene_symbol: TNFRSF13C
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: TNFRSF13C
disease_id: OMIM:613494
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 4
gene_symbol: ICOS
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: CD19
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: CR2
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: MS4A1
disease_id: OMIM:613495
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 5
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: SPI1
disease_id: OMIM:619707
disease_name: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT
gene_symbol: SLC39A7
disease_id: OMIM:619693
disease_name: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: HLA-DPB1
disease_id: ORPHA:133
disease_name: Chronic beryllium disease
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: ATP6AP2
disease_id: OMIM:301045
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: MYC
disease_id: ORPHA:543
disease_name: Burkitt lymphoma
Small non-cleaved cell lymphoma
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: MALT1
disease_id: OMIM:615468
disease_name: IMMUNODEFICIENCY 12
gene_symbol: STIM1
disease_id: OMIM:612783
disease_name: IMMUNODEFICIENCY 10
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: ORAI1
disease_id: OMIM:612782
disease_name: IMMUNODEFICIENCY 9
gene_symbol: CD70
disease_id: OMIM:618261
disease_name: LYMPHOPROLIFERATIVE SYNDROME 3
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: NLRC4
disease_id: OMIM:616050
disease_name: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
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: RNASEH2B
disease_id: OMIM:610181
disease_name: AICARDI-GOUTIERES SYNDROME 2
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: LMNB2
disease_id: ORPHA:79087
disease_name: Acquired partial lipodystrophy
Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: EIF2AK3
disease_id: ORPHA:1667
disease_name: Wolcott-Rallison syndrome
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
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: BCL10
disease_id: OMIM:616098
disease_name: IMMUNODEFICIENCY 37
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED