TaoMedAI/RareMedData huggingface dataset:
Gene: PPP1R21
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Weak cry (HP:0001612)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Short chin (HP:0000331)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Flat occiput (HP:0005469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Overlapping toe (HP:0001845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Blue sclerae (HP:0000592)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: DIS3L2
Phenotype: Nephroblastomatosis (HP:0008643)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Seizure (HP:0001250)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Volvulus (HP:0002580)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Nephrogenic rest (HP:0100880)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Renal hamartoma (HP:0008696)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Tall stature (HP:0000098)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Abnormal pancreas morphology (HP:0012090)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Open mouth (HP:0000194)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Open mouth (HP:0000194)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Distal ileal atresia (HP:0200116)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Naevus flammeus of the eyelid (HP:0010733)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Long upper lip (HP:0011341)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Short nose (HP:0003196)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Visceromegaly (HP:0003271)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Edema (HP:0000969)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Ascites (HP:0001541)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Large for gestational age (HP:0001520)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Hypoplasia of the abdominal wall musculature (HP:0005247)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: DIS3L2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Low-set ears (HP:0000369)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: High forehead (HP:0000348)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Gene: DIS3L2
Phenotype: Micrognathia (HP:0000347)
Associated disease: PERLMAN SYNDROME (OMIM:267000)
Gene: DIS3L2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)