TaoMedAI/RareMedData huggingface dataset:
Gene: BCOR
Phenotype: Hand clenching (HP:0001188)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Septate vagina (HP:0001153)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Syndactyly (HP:0001159)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Complete duplication of thumb phalanx (HP:0009943)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Long thorax (HP:0100818)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Seizure (HP:0001250)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Seizure (HP:0001250)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Seizure (HP:0001250)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Chronic infection (HP:0031035)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Bone marrow hypercellularity (HP:0031020)
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: Renal hypoplasia (HP:0000089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hydroureter (HP:0000072)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hydroureter (HP:0000072)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hypospadias (HP:0000047)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Muscle weakness (HP:0001324)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Bone pain (HP:0002653)
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: Scoliosis (HP:0002650)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Scoliosis (HP:0002650)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Scoliosis (HP:0002650)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Cleft palate (HP:0000175)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
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: Hydronephrosis (HP:0000126)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Productive cough (HP:0031245)
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: Lymphadenopathy (HP:0002716)
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: Anal atresia (HP:0002023)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Abdominal pain (HP:0002027)
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: Hyperlordosis (HP:0003307)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Radiculomegaly (HP:0033189)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Addictive alcohol use (HP:0030955)
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: Anorexia (HP:0002039)
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: Radial deviation of finger (HP:0009466)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hypofibrinogenemia (HP:0011900)
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: Abnormal speech pattern (HP:0002167)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Gangrene (HP:0100758)
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: Ciliary body coloboma (HP:0020006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Abnormal palmar dermatoglyphics (HP:0001018)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Vertigo (HP:0002321)
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: Spastic paraparesis (HP:0002313)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Metrorrhagia (HP:0100608)
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: Ectopia lentis (HP:0001083)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Short thumb (HP:0009778)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Disseminated intravascular coagulation (HP:0005521)
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: Nystagmus (HP:0000639)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Increased total leukocyte count (HP:0001974)
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: Blindness (HP:0000618)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Iris coloboma (HP:0000612)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Fever (HP:0001945)
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: Anemia (HP:0001903)
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: Broad hallux (HP:0010055)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Dental crowding (HP:0000678)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Oligodontia (HP:0000677)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Oligodontia (HP:0000677)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Tooth malposition (HP:0000692)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Tooth malposition (HP:0000692)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Short stature (HP:0004322)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCOR
Phenotype: Narrow chest (HP:0000774)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Hematuria (HP:0000790)
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: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: BCOR
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd toe (HP:0100348)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd toe (HP:0100349)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Stomatitis (HP:0010280)
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: Anteverted ears (HP:0040080)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Gene: BCOR
Phenotype: Short clavicles (HP:0000894)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: BCOR
Phenotype: Flexion contracture of the 2nd toe (HP:0010327)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Purpura (HP:0000979)
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: Bruising susceptibility (HP:0000978)
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: Petechiae (HP:0000967)
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: Flexion contracture of the 4th toe (HP:0010339)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Narrow face (HP:0000275)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)
Gene: BCOR
Phenotype: Narrow face (HP:0000275)
Associated disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)