TaoMedAI/RareMedData huggingface dataset:
Gene: LMX1B
Phenotype: Abnormal shape of the palpebral fissure (HP:0200005)
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: Abnormality of the elbow (HP:0009811)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Esophagitis (HP:0100633)
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: Iliac horns (HP:0009780)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Iliac horns (HP:0009780)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Lester's sign (HP:0009781)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Lester's sign (HP:0009781)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Biceps aplasia (HP:0009783)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Triceps aplasia (HP:0009785)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Quadriceps aplasia (HP:0009788)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Cerebellar vermis atrophy (HP:0006855)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Short stature (HP:0004322)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Short stature (HP:0004322)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Patellar hypoplasia (HP:0003065)
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: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Abnormal patella morphology (HP:0003045)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Abnormal cranial nerve physiology (HP:0031910)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Atypical behavior (HP:0000708)
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: Young adult onset (HP:0011462)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Hematuria (HP:0000790)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Hematuria (HP:0000790)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Hypertension (HP:0000822)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Knee joint hypermobility (HP:0045086)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Knee pain (HP:0030839)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Single transverse palmar crease (HP:0000954)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Abnormal iris pigmentation (HP:0008034)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Full cheeks (HP:0000293)
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 nail morphology (HP:0001597)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Concave nail (HP:0001598)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Fixed elbow flexion (HP:0006471)
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: Patellar aplasia (HP:0006443)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Patellar aplasia (HP:0006443)
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: Disproportionate prominence of the femoral medial condyle (HP:0006437)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Elongated radius (HP:0006424)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Brachycephaly (HP:0000248)
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: Thin vermilion border (HP:0000233)
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: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Microphakia (HP:0012376)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Abnormal pinna morphology (HP:0000377)
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: Absence of pectoralis minor muscle (HP:0005255)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Proximal finger joint hyperextensibility (HP:0005190)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Salcedo syndrome; Nail-patella-like renal disease (ORPHA:2613)
Gene: LMX1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Low-set ears (HP:0000369)
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: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Patellar dislocation (HP:0002999)
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: High forehead (HP:0000348)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Round face (HP:0000311)
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: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Glenoid fossa hypoplasia (HP:0006633)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Thickening of the lateral border of the scapula (HP:0006650)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Hypoplasia of first ribs (HP:0006657)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Internal carotid artery hypoplasia (HP:0005290)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Astigmatism (HP:0000483)
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: Strabismus (HP:0000486)
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: Microcornea (HP:0000482)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Short neck (HP:0000470)
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: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Webbed neck (HP:0000465)
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: Anonychia (HP:0001798)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Pes planus (HP:0001763)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Pes planus (HP:0001763)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Wide nose (HP:0000445)
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: Bulbous nose (HP:0000414)
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: Talipes equinovarus (HP:0001762)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Talipes equinovarus (HP:0001762)
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: Talipes equinovarus (HP:0001762)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Epistaxis (HP:0000421)
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: Coronary artery dissection (HP:0006702)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Prominent metopic ridge (HP:0005487)
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: Cataract (HP:0000518)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMX1B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Telecanthus (HP:0000506)
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: Ptosis (HP:0000508)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Glaucoma (HP:0000501)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Ridged nail (HP:0001807)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Gene: LMX1B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Keratoconus (HP:0000563)
Associated disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Gene: LMX1B
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: Nail-patella syndrome; Turner-Kieser syndrome; Onychoosteodysplasia (ORPHA:2614)
Gene: LMX1B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMX1B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LORICRIN
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Generalized ichthyosis (HP:0007503)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)