TaoMedAI/RareMedData huggingface dataset:
Gene: PLOD3
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: PLOD3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: PLOD3
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: HSPB3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Steppage gait (HP:0003376)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: HSPB3
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Gene: TRPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1 (OMIM:615040)
Gene: TRPA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1 (OMIM:615040)
Gene: TRPA1
Phenotype: Episodic pain (HP:0032148)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1 (OMIM:615040)
Gene: SELENBP1
Phenotype: Halitosis (HP:0100812)
Associated disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Gene: SELENBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Gene: SELENBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Gene: SELENBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Gene: SELENBP1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Gene: NOL3
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Middle age onset (HP:0003596)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Late onset (HP:0003584)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Insomnia (HP:0100785)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Action tremor (HP:0002345)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: NOL3
Phenotype: Action myoclonus (HP:0034360)
Associated disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Gene: TAF1A
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAF1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MAP3K14
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased gamma-delta T cell proportion (HP:0500271)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: MAP3K14
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Gene: BAZ1B
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BAZ1B
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BAZ1B
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BAZ1B
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)