TaoMedAI/RareMedData huggingface dataset:
Gene: NAA60
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Hyperacusis (HP:0010780)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Short stature (HP:0004322)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Anxiety (HP:0000739)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Young adult onset (HP:0011462)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Microcephaly (HP:0000252)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: High palate (HP:0000218)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Genu valgum (HP:0002857)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Low-set ears (HP:0000369)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Globus pallidus calcification (HP:0031627)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Strabismus (HP:0000486)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Developmental cataract (HP:0000519)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Proptosis (HP:0000520)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: PYROXD1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Tall stature (HP:0000098)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Long face (HP:0000276)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Central core regions in muscle fibers (HP:0030230)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Pes planus (HP:0001763)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: PYROXD1
Phenotype: Exotropia (HP:0000577)
Associated disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Gene: SPEF2
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Gene: SPEF2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPEF2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: KIAA0319L
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)