TaoMedAI/RareMedData huggingface dataset:
Gene: RAB23
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Micrognathia (HP:0000347)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Genu varum (HP:0002970)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Strabismus (HP:0000486)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Microcornea (HP:0000482)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Short neck (HP:0000470)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Wide nose (HP:0000445)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Polysplenia (HP:0001748)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Polysplenia (HP:0001748)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Telecanthus (HP:0000506)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Deviation of finger (HP:0004097)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJB11
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Adult onset (HP:0003581)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Progressive (HP:0003676)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Gout (HP:0001997)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Gene: DNAJB11
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: DNAJB11
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: POLR3K
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Mental deterioration (HP:0001268)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Coma (HP:0001259)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Tetraparesis (HP:0002273)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Dyskinesia (HP:0100660)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Athetosis (HP:0002305)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Ketosis (HP:0001946)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Hypodontia (HP:0000668)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Motor regression (HP:0033044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: POLR3K
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Gene: WBP11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Renal agenesis (HP:0000104)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Short stature (HP:0004322)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Preauricular pit (HP:0004467)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Retrognathia (HP:0000278)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Microcephaly (HP:0000252)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Low-set ears (HP:0000369)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Broad forehead (HP:0000337)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Webbed neck (HP:0000465)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Choanal atresia (HP:0000453)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: WBP11
Phenotype: Wide nose (HP:0000445)
Associated disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Gene: UPB1
Phenotype: Elevated urinary ureidopropionic acid level (HP:6000534)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Motor delay (HP:0001270)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level (HP:6000623)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated urinary ureidoisobutyric acid level (HP:6000622)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Seizure (HP:0001250)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Dystonia (HP:0001332)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Anal atresia (HP:0002023)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000209)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated CSF N-carbamyl-beta-alanine concentration (HP:6000210)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Elevated circulating N-carbamoyl-beta-alanine concentration (HP:0034595)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Reduced hepatic beta-ureidopropionase activity (HP:6000082)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: UPB1
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Gene: GHRL
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: GHRL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: GHRL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: GHRL
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: GHRL
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: GHRL
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: WWOX
Phenotype: Hand clenching (HP:0001188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)