TaoMedAI/RareMedData huggingface dataset:
Gene: MYSM1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: C1QTNF5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Macular atrophy (HP:0007401)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Adult onset (HP:0003581)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Fundus atrophy (HP:0001099)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Iris atrophy (HP:0001089)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Abnormal suspensory ligament of lens morphology (HP:0012628)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Photophobia (HP:0000613)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Macular degeneration (HP:0000608)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Abnormal anterior eye segment morphology (HP:0004328)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Drusen (HP:0011510)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Patchy atrophy of the retinal pigment epithelium (HP:0007791)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Adult-onset night blindness (HP:0007830)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Multifocal subretinal deposits (HP:0031530)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Sub-RPE deposits (HP:0031531)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Retinopathy (HP:0000488)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Scotoma (HP:0000575)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Visual loss (HP:0000572)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Visual loss (HP:0000572)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Tritanomaly (HP:0000552)
Associated disease: LORD; Autosomal dominant late-onset retinal degeneration; Late-onset retinal degeneration (ORPHA:67042)
Gene: C1QTNF5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Gene: C1QTNF5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C1QTNF5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPRASP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Unilateral microphthalmos (HP:0011480)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Telecanthus (HP:0000506)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Ptosis (HP:0000508)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: GPRASP2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Gene: SLC26A9
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC26A9
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC25A26
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Variable expressivity (HP:0003828)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Abdominal pain (HP:0002027)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Poor appetite (HP:0004396)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Fatigue (HP:0012378)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: SLC25A26
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Gene: LRRC56
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Gene: LRRC56
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LRRC56
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TNFRSF13C
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)