TaoMedAI/RareMedData huggingface dataset:
Gene: ANKRD11
Phenotype: Short neck (HP:0000470)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Webbed neck (HP:0000465)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Webbed neck (HP:0000465)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Protruding ear (HP:0000411)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Protruding ear (HP:0000411)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Telecanthus (HP:0000506)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Telecanthus (HP:0000506)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Ptosis (HP:0000508)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Myopia (HP:0000545)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: RACGAP1
Phenotype: Increased total iron binding capacity (HP:0025196)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Abnormal cellular phenotype (HP:0025354)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE (OMIM:619789)
Gene: RACGAP1
Phenotype: Abnormal erythroid lineage cell morphology (HP:0012130)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Melena (HP:0002249)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Headache (HP:0002315)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Abnormal proerythroblast morphology (HP:0025035)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE (OMIM:619789)
Gene: RACGAP1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE (OMIM:619789)
Gene: RACGAP1
Phenotype: Anemia (HP:0001903)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Short stature (HP:0004322)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE (OMIM:619789)
Gene: RACGAP1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Pallor (HP:0000980)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Fatigue (HP:0012378)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: RACGAP1
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: UHRF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Macroglossia (HP:0000158)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Malabsorption (HP:0002024)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Anemia (HP:0001903)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Short stature (HP:0004322)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Flat face (HP:0012368)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: UHRF1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: BLNK
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: BLNK
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Gene: BLNK
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CARD10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Pleural thickening (HP:0031944)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 10 concentration (HP:0034163)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 21 concentration (HP:0034165)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 22 concentration (HP:0034168)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 27 concentration (HP:0034174)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 17A concentration (HP:0034177)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Reduced circulating interleukin 23 concentration (HP:0034171)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Crohn's disease (HP:0100280)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: CARD10
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Gene: ICOS
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)