TaoMedAI/RareMedData huggingface dataset:
Gene: ASPH
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Moderate myopia (HP:0031624)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Pes planus (HP:0001763)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Prominent nose (HP:0000448)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Wide nose (HP:0000445)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Cataract (HP:0000518)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Visual impairment (HP:0000505)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASS1
Phenotype: Stroke (HP:0001297)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Lethargy (HP:0001254)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Seizure (HP:0001250)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Ataxia (HP:0001251)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Coma (HP:0001259)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Vomiting (HP:0002013)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Protein avoidance (HP:0002038)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Reduced tissue argininosuccinate synthetase activity (HP:6000353)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Episodic ammonia intoxication (HP:0001951)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Irritability (HP:0000737)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: ASS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Gene: SERPINC1
Phenotype: Arterial occlusion (HP:0025324)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Recurrent thromboembolism (HP:0004831)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Retinal vein occlusion (HP:0012636)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Recurrent thrombophlebitis (HP:0004419)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Decreased level of heparin co-factor II (HP:0040226)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Reduced antithrombin antigen (HP:0040246)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Miscarriage (HP:0005268)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Pregnancy exposure (HP:0031437)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Gene: SERPINC1
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Mesenteric venous thrombosis (HP:0030248)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: SERPINC1
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Gene: ZFHX3
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: ZFHX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 8 (OMIM:613055)
Gene: ZFHX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: ZFHX3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: ZFHX3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Adult onset (HP:0003581)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 8 (OMIM:613055)
Gene: ZFHX3
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 8 (OMIM:613055)
Gene: ZFHX3
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ZFHX3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Gene: ATIC
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Seizure (HP:0001250)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Seizure (HP:0001250)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Hypotonia (HP:0001252)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Elevated erythrocyte AICA-ribotide concentration (HP:6000752)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Fused labia minora (HP:0000063)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Fused labia minora (HP:0000063)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Wide mouth (HP:0000154)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Wide mouth (HP:0000154)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Frontal bossing (HP:0002007)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level (HP:0034565)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Congenital onset (HP:0003577)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Skin dimple (HP:0010781)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Brachycephaly (HP:0000248)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Congenital blindness (HP:0007875)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Congenital blindness (HP:0007875)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Hyponatremia (HP:0002902)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Low-set ears (HP:0000369)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Low-set ears (HP:0000369)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)