TaoMedAI/RareMedData huggingface dataset:
Gene: FOCAD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Abnormal hepatic echogenicity (HP:0031142)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Diarrhea (HP:0002014)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Vomiting (HP:0002013)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Ballooning hepatocyte degeneration (HP:0033193)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Portal inflammation (HP:0033196)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Pneumonia (HP:0002090)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Congenital onset (HP:0003577)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Dermal translucency (HP:0010648)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Nystagmus (HP:0000639)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Anemia (HP:0001903)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Dry hair (HP:0011359)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Status asthmaticus (HP:0012653)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Malnutrition (HP:0004395)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Cough (HP:0012735)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Irritability (HP:0000737)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Short attention span (HP:0000736)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Cow milk allergy (HP:0100327)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Abdominal distention (HP:0003270)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Jaundice (HP:0000952)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Epicanthus (HP:0000286)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Dependency on parenteral nutrition (HP:0033994)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Ascites (HP:0001541)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Abnormal circulating thyroid hormone concentration (HP:0031508)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Chronic gastritis (HP:0005231)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Biliary hyperplasia (HP:0006560)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hyponatremia (HP:0002902)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Alpha-aminobutyric aciduria (HP:0025631)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: High forehead (HP:0000348)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Micrognathia (HP:0000347)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Triangular face (HP:0000325)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Proptosis (HP:0000520)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: TMEM260
Phenotype: Generalized edema (HP:0007430)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Right aortic arch (HP:0012020)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Renal cyst (HP:0000107)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Tricuspid atresia (HP:0011662)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Cyanosis (HP:0000961)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Microcephaly (HP:0000252)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Death in infancy (HP:0001522)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Low-set ears (HP:0000369)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Webbed neck (HP:0000465)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Overlapping toe (HP:0001845)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: TMEM260
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TMEM260
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Gene: DNAAF5
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Absent inner dynein arms (HP:0012257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Immotile sperm (HP:0012208)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Gene: DNAAF5
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: BPNT2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)