TaoMedAI/RareMedData huggingface dataset:
Gene: BCOR
Phenotype: Long face (HP:0000276)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Laterally curved eyebrow (HP:0007733)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Kyphosis (HP:0002808)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: High palate (HP:0000218)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Genu valgum (HP:0002857)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Growth delay (HP:0001510)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Fused teeth (HP:0011090)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Fused teeth (HP:0011090)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Cupped ear (HP:0000378)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Long philtrum (HP:0000343)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Long philtrum (HP:0000343)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Dextrocardia (HP:0001651)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Microcornea (HP:0000482)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Microcornea (HP:0000482)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Webbed neck (HP:0000465)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Webbed neck (HP:0000465)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hammertoe (HP:0001765)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Hammertoe (HP:0001765)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Cataract (HP:0000518)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Cataract (HP:0000518)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Sandal gap (HP:0001852)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Ptosis (HP:0000508)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Glaucoma (HP:0000501)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Glaucoma (HP:0000501)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Exotropia (HP:0000577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Visual loss (HP:0000572)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Retinal detachment (HP:0000541)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: BCOR
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBC1D8B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Adult onset (HP:0003581)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TBC1D8B
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Gene: TBC1D8B
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NSUN2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Seizure (HP:0001250)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)