TaoMedAI/RareMedData huggingface dataset:
Gene: TRPM3
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Torticollis (HP:0000473)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Glaucoma (HP:0000501)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: PGAP1
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Limb tremor (HP:0200085)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Divergence nystagmus (HP:0030691)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: SPG67; Autosomal recessive spastic paraplegia type 67 (ORPHA:401820)
Gene: PGAP1
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: PGAP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Gene: DCAF17
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Dysarthria (HP:0001260)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hypoplasia of the fallopian tube (HP:0008697)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Micropenis (HP:0000054)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Dystonia (HP:0001332)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Fine hair (HP:0002213)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Anodontia (HP:0000674)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hallucinations (HP:0000738)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Psychosis (HP:0000709)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Sparse hair (HP:0008070)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Alopecia (HP:0001596)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Triangular face (HP:0000325)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Protruding ear (HP:0000411)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: DCAF17
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Gene: BICC1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Gene: BICC1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: BICC1
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: FRAS1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal middle ear morphology (HP:0008609)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Microtia (HP:0008551)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Hypoplastic superior helix (HP:0008559)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Enlarged fetal lungs (HP:6000613)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Seizure (HP:0001250)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Laryngeal atresia (HP:0008750)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)