TaoMedAI/RareMedData huggingface dataset:
Gene: FANCL
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Short neck (HP:0000470)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Webbed neck (HP:0000465)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Gene: FANCL
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ANO10
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Slurred speech (HP:0001350)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Intention tremor (HP:0002080)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Hyperactive Achilles reflex (HP:0033206)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Fasciculations (HP:0002380)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ANO10
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Tortuosity of conjunctival vessels (HP:0000503)
Associated disease: Autosomal recessive spinocerebellar ataxia type 10; SCAR10; Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289)
Gene: ANO10
Phenotype: Tortuosity of conjunctival vessels (HP:0000503)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Gene: ODAD2
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Gene: ODAD2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RBM28
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Flexural reticulate hyperpigmentation (HP:6000745)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Hyperpigmented nevi (HP:0007481)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Motor deterioration (HP:0002333)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Motor deterioration (HP:0002333)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Carious teeth (HP:0000670)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)