TaoMedAI/RareMedData huggingface dataset:
Gene: CD79B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Diarrhea (HP:0002014)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD81
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Mesangial Immune complex deposition (HP:0033295)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Chronic decreased circulating total IgG (HP:0032134)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Purpura (HP:0000979)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Arthralgia (HP:0002829)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD81
Phenotype: Nephrotic range proteinuria (HP:0012593)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Gene: CD151
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Nephritis (HP:0000123)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Glomerular basement membrane disruption (HP:0033485)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: CD151
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Gene: LRBA
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Arthritis (HP:0001369)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Vitiligo (HP:0001045)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Thyroiditis (HP:0100646)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased specific antibody response to vaccination (HP:0032140)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Psoriasiform lesion (HP:0025526)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Uveitis (HP:0000554)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: LRBA
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Gene: CDC6
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Anotia (HP:0009892)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Epispadias (HP:0000039)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Micropenis (HP:0000054)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Hypospadias (HP:0000047)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)