TaoMedAI/RareMedData huggingface dataset:
Gene: SLC19A2
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Visual loss (HP:0000572)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Visual loss (HP:0000572)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARFGEF2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Seizure (HP:0001250)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Gene: ARFGEF2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARFGEF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: ARFGEF1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Gene: AKAP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: AKAP3
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Gene: SLC34A2
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Subpleural interstitial thickening (HP:0025178)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Gonadal calcification (HP:0008703)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Tachypnea (HP:0002789)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Abnormal blood phosphate concentration (HP:0100529)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Calcium nephrolithiasis (HP:0004724)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Increased circulating surfactant protein level (HP:0032094)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Chest pain (HP:0100749)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Stippled calcification in carpal bones (HP:0004241)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Fever (HP:0001945)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Pleural thickening (HP:0031944)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Hematuria (HP:0000790)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Oxygen desaturation on exertion (HP:0030874)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Cyanosis (HP:0000961)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Testicular microlithiasis (HP:0012215)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Intraalveolar nodular calcifications (HP:0006514)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Fatigue (HP:0012378)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Bronchitis (HP:0012387)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Gene: SLC34A2
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: SLC34A2
Phenotype: Weight loss (HP:0001824)
Associated disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Gene: CCT2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CCT2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPC2
Phenotype: Seizure (HP:0001250)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Ataxia (HP:0001251)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Spasticity (HP:0001257)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Cataplexy (HP:0002524)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Death in childhood (HP:0003819)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Dystonia (HP:0001332)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Low cholesterol esterification rate (HP:0003349)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Loss of speech (HP:0002371)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Foam cells (HP:0003651)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: CNS foam cells (HP:0003640)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Dementia (HP:0000726)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Psychosis (HP:0000709)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Jaundice (HP:0000952)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Perseverative thought (HP:0030223)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Fetal ascites (HP:0001791)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: NPC2
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Gene: COLEC10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Micropenis (HP:0000054)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)