TaoMedAI/RareMedData huggingface dataset:
Gene: ARPC5
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC4
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Tethered cord (HP:0002144)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Apraxia (HP:0002186)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Impulsivity (HP:0100710)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Accommodative esotropia (HP:0020046)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Developmental cataract (HP:0000519)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC4
Phenotype: Exotropia (HP:0000577)
Associated disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Gene: ARPC1B
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Hematochezia (HP:0002573)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Vasculitis (HP:0002633)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Subconjunctival hemorrhage (HP:0011896)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Cellulitis (HP:0100658)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Decreased mean platelet volume (HP:0005537)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Colonic eosinophilia (HP:0031813)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Blepharitis (HP:0000498)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: ARPC1B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Gene: TSFM
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Ataxia (HP:0001251)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Poor suck (HP:0002033)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Dyspnea (HP:0002094)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Apathy (HP:0000741)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Hyponatremia (HP:0002902)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: TSFM
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Gene: RAD50
Phenotype: Ataxia (HP:0001251)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Spasticity (HP:0001257)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Short stature (HP:0004322)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Microcephaly (HP:0000252)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Growth delay (HP:0001510)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Bird-like facies (HP:0000320)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: RAD50
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD50
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Gene: KIF20A
Phenotype: Stroke (HP:0001297)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Syncope (HP:0001279)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Portal vein hypoplasia (HP:0034548)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Fetal onset (HP:0011461)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Hepatic artery hyperplasia (HP:4000148)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Death in infancy (HP:0001522)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Ascites (HP:0001541)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: KIF20A
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: KIF20A
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Gene: ENAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IB (OMIM:104500)
Gene: ENAM
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Taurodontia (HP:0000679)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Gene: ENAM
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IB (OMIM:104500)
Gene: RASGRP1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)