TaoMedAI/RareMedData huggingface dataset:
Gene: SRCAP
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Shield chest (HP:0000914)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Long nose (HP:0003189)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Varicocele (HP:0012871)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Varicocele (HP:0012871)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Mesocardia (HP:0011599)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Mesocardia (HP:0011599)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Ivory epiphyses of the distal phalanges of the hand (HP:0010252)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short clavicles (HP:0000894)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short clavicles (HP:0000894)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Long face (HP:0000276)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Growth delay (HP:0001510)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short philtrum (HP:0000322)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short philtrum (HP:0000322)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Triangular face (HP:0000325)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Triangular face (HP:0000325)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Strabismus (HP:0000486)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Strabismus (HP:0000486)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short neck (HP:0000470)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short neck (HP:0000470)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Prominent nose (HP:0000448)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Protruding ear (HP:0000411)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Long eyelashes (HP:0000527)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Gluten intolerance (HP:0012538)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Myopia (HP:0000545)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: PPP1R13L
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: High anterior hairline (HP:0009890)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Motor delay (HP:0001270)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Cleft lip (HP:0410030)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Coarse hair (HP:0002208)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Dry hair (HP:0011359)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Ventricular bigeminy (HP:0034306)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Pruritus (HP:0000989)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Woolly scalp hair (HP:0040149)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Notched primary central incisor (HP:0012413)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: PPP1R13L
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPP1R13L
Phenotype: Onycholysis (HP:0001806)
Associated disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Gene: SLC26A1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: SLC26A1
Phenotype: Decreased circulating sulfate concentration (HP:6000854)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: SLC26A1
Phenotype: Increased urinary sulfate (HP:0012613)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: SLC26A1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: SLC26A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: SLC26A1
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Gene: SLC26A1
Phenotype: Costochondral pain (HP:0006649)
Associated disease: HYPERSULFATURIA (OMIM:620372)
Gene: CFHR3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Seizure (HP:0001250)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Coma (HP:0001259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Diarrhea (HP:0002014)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Late onset (HP:0003584)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Aphasia (HP:0002381)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Schistocytosis (HP:0001981)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Fever (HP:0001945)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Macular drusen (HP:0030499)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Foveal hypopigmentation (HP:0012643)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)