TaoMedAI/RareMedData huggingface dataset:
Gene: TOR1AIP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Contracture of the distal interphalangeal joint of the fingers (HP:0009697)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Interosseus muscle atrophy (HP:0007181)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Joint contracture (HP:0034392)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: WIPI2
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Dysarthria (HP:0001260)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Short thumb (HP:0009778)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: WIPI2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Gene: TANC2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: TANC2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Gene: LDLRAP1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Gene: LDLRAP1
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLRAP1
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PRPF31
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Blindness (HP:0000618)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Macular edema (HP:0040049)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Gene: PRPF31
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF31
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF31
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TCTN3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Split hand (HP:0001171)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN3
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)