TaoMedAI/RareMedData huggingface dataset:
Gene: WAS
Phenotype: Absent microvilli on the surface of peripheral blood lymphocytes (HP:0002971)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Abnormal delayed hypersensitivity skin test (HP:0002963)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Blepharitis (HP:0000498)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Large vessel vasculitis (HP:0005310)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Keratitis (HP:0000491)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Epistaxis (HP:0000421)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Epistaxis (HP:0000421)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA 1 (OMIM:313900)
Gene: WAS
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Gene: WAS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: X-linked severe congenital neutropenia (ORPHA:86788)
Gene: WAS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WAS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED (OMIM:300299)
Gene: WIPF1
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Sepsis (HP:0100806)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Meningitis (HP:0001287)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Hematochezia (HP:0002573)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Arthritis (HP:0001369)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Lymphoma (HP:0002665)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Vasculitis (HP:0002633)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Hematemesis (HP:0002248)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Chest pain (HP:0100749)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Urticaria (HP:0001025)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Chronic leukemia (HP:0005558)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Fever (HP:0001945)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Anemia (HP:0001903)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Purpura (HP:0000979)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Petechiae (HP:0000967)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Otitis media (HP:0000388)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Blepharitis (HP:0000498)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Keratitis (HP:0000491)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: WIPF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Gene: WIPF1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Eczema-thrombocytopenia-immunodeficiency syndrome; WAS; Wiskott-Aldrich syndrome (ORPHA:906)
Gene: EIF4H
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EIF4H
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)