TaoMedAI/RareMedData huggingface dataset:
Gene: OPN1MW
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
Gene: OPN1MW
Phenotype: Congenital onset (HP:0003577)
Associated disease: COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
Gene: OPN1MW
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Nystagmus (HP:0000639)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Nystagmus (HP:0000639)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Photophobia (HP:0000613)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Photophobia (HP:0000613)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Reduced OCT-measured foveal thickness (HP:0030619)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Deuteranomaly (HP:0011520)
Associated disease: COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
Gene: OPN1MW
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Blue cone monochromacy (HP:0007939)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Blue cone monochromacy (HP:0007939)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Visual impairment (HP:0000505)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Visual impairment (HP:0000505)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1MW
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Color vision defect (HP:0000551)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1MW
Phenotype: Myopia (HP:0000545)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1MW
Phenotype: Myopia (HP:0000545)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: GCSH
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Elevated brain glycine level by MRS (HP:0034893)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypertonia (HP:0001276)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Areflexia (HP:0001284)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Lethargy (HP:0001254)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Coma (HP:0001259)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Dystonia (HP:0001332)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Myoclonus (HP:0001336)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Open mouth (HP:0000194)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Abnormal diffusion weighted cerebral MRI morphology (HP:0032615)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Poor suck (HP:0002033)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Apnea (HP:0002104)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Impulsivity (HP:0100710)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hallucinations (HP:0000738)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Irritability (HP:0000737)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Agitation (HP:0000713)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Ankle clonus (HP:0011448)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Partial atrioventricular canal defect (HP:0011577)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Hypernatremia (HP:0003228)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Recurrent singultus (HP:0100247)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Cyanosis (HP:0000961)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GCSH
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Gene: GDF1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Right atrial isomerism (HP:0011536)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Common atrium (HP:0011565)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Hypoplastic pulmonary veins (HP:0005304)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Single ventricle (HP:0001750)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Single ventricle (HP:0001750)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Gene: GDF1
Phenotype: Asplenia (HP:0001746)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Polysplenia (HP:0001748)
Associated disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Gene: GDF1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GDF1
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GDF2
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Seizure (HP:0001250)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)
Gene: GDF2
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)
Gene: GDF2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Migraine (HP:0002076)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)