TaoMedAI/RareMedData huggingface dataset:
Gene: LMNB1
Phenotype: Impotence (HP:0000802)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Dementia (HP:0000726)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Short nose (HP:0003196)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Pointed chin (HP:0000307)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Autonomic bladder dysfunction (HP:0005341)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMO1
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LMO1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PRICKLE3
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF (OMIM:308905)
Gene: PRICKLE3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF (OMIM:308905)
Gene: PRICKLE3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF (OMIM:308905)
Gene: LMX1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 7 (OMIM:601412)
Gene: LMX1A
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 7 (OMIM:601412)
Gene: LMX1B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Spina bifida (HP:0002414)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Motor delay (HP:0001270)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Seizure (HP:0001250)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Seizure (HP:0001250)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Inability to walk (HP:0002540)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Proteinuria (HP:0000093)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Small scrotum (HP:0000046)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Arthritis (HP:0001369)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Micropenis (HP:0000054)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Hypoplastic radial head (HP:0003997)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Nephritis (HP:0000123)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Constipation (HP:0002019)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Constipation (HP:0002019)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Large forehead (HP:0002003)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Spondylolysis (HP:0003304)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Asthma (HP:0002099)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Talipes calcaneovarus (HP:0008124)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Back pain (HP:0003418)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Back pain (HP:0003418)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Tented philtrum (HP:0011825)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Broad chin (HP:0011822)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Middle age onset (HP:0003596)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Late onset (HP:0003584)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Contracture of the distal interphalangeal joint of the fingers (HP:0009697)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: LMX1B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)