TaoMedAI/RareMedData huggingface dataset:
Gene: TPK1
Phenotype: Intention tremor (HP:0002080)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Developmental regression (HP:0002376)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Loss of speech (HP:0002371)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Vertigo (HP:0002321)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Dysphonia (HP:0001618)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: DNAI1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Pneumonia (HP:0002090)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Headache (HP:0002315)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Anosmia (HP:0000458)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Asplenia (HP:0001746)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Gene: DNAI1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: FOXD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Gene: FOXD3
Phenotype: Vitiligo (HP:0001045)
Associated disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Gene: FOXD3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Gene: FOXD3
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Gene: MLH3
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MLH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (OMIM:614385)
Gene: MLH3
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MLH3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MLH3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH3
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MLH3
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (OMIM:614385)
Gene: MLH3
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NPHP3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Hypertonia (HP:0001276)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Hyperamylasemia (HP:0410288)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Neonatal death (HP:0003811)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Cholestasis (HP:0001396)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Cholestasis (HP:0001396)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Hyperechogenic pancreas (HP:0006276)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Renal cyst (HP:0000107)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)