TaoMedAI/RareMedData huggingface dataset:
Gene: TRIO
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Partial absence of thumb (HP:0009659)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Scapular winging (HP:0003691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Hirsutism (HP:0001007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Slanting of the palpebral fissure (HP:0200006)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Hyperacusis (HP:0010780)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Low hanging columella (HP:0009765)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Short palm (HP:0004279)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Amblyopia (HP:0000646)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Dental crowding (HP:0000678)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Dental crowding (HP:0000678)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Dental crowding (HP:0000678)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Oligodontia (HP:0000677)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Synophrys (HP:0000664)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Eruption failure (HP:0000706)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Short nose (HP:0003196)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Short nose (HP:0003196)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Epicanthus (HP:0000286)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Kyphosis (HP:0002808)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: High palate (HP:0000218)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Fatigue (HP:0012378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Overfolded helix (HP:0000396)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Long philtrum (HP:0000343)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: High forehead (HP:0000348)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: High forehead (HP:0000348)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Micrognathia (HP:0000347)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Short chin (HP:0000331)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Short chin (HP:0000331)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Congenital ptosis (HP:0007970)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Strabismus (HP:0000486)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Pes planus (HP:0001763)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Sandal gap (HP:0001852)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRPC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA41; Spinocerebellar ataxia type 41 (ORPHA:458798)
Gene: TRPC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Postural instability (HP:0002172)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Postural instability (HP:0002172)
Associated disease: SCA41; Spinocerebellar ataxia type 41 (ORPHA:458798)
Gene: TRPC3
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Gene: TRPC3
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCA41; Spinocerebellar ataxia type 41 (ORPHA:458798)
Gene: TRPC6
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: TRPC6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
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: TRPC6
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
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: TRPC6
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: TRPC6
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
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: TRPC6
Phenotype: Young adult onset (HP:0011462)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
Phenotype: Hypertension (HP:0000822)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Gene: TRPC6
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)