TaoMedAI/RareMedData huggingface dataset:
Gene: NSD1
Phenotype: Small cell lung carcinoma (HP:0030357)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Esotropia (HP:0000565)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Myopia (HP:0000545)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Myopia (HP:0000545)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: LMBR1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Syndactyly (HP:0001159)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: 1-5 finger complete cutaneous syndactyly (HP:0006088)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Aplasia of the ulna (HP:0003982)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Aplasia of the ulna (HP:0003982)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Absent radius (HP:0003974)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Absent radius (HP:0003974)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Absent radius (HP:0003974)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Absent radius (HP:0003974)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Short columella (HP:0002000)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Limb duplication (HP:0100524)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Polydactyly (HP:0010442)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Supernumerary metacarpal bones (HP:0005917)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Deviation of the hand or of fingers of the hand (HP:0009484)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Absent tibia (HP:0009556)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Absent tibia (HP:0009556)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Aplasia of the tarsal bones (HP:0010509)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Fibular duplication (HP:0010503)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Fibular duplication (HP:0010503)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: 1-5 finger cutaneous syndactyly (HP:0010708)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: 1-5 finger cutaneous syndactyly (HP:0010708)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Mirror image polydactyly (HP:0010689)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Peromelia (HP:0009828)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Lower limb peromelia (HP:0009820)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Upper limb phocomelia (HP:0009813)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Aplasia of the phalanges of the hand (HP:0009802)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Absent toe (HP:0010760)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Absent metatarsal bone (HP:0010744)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Abnormal scaphoid morphology (HP:0004243)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Abnormal trapezium morphology (HP:0004252)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Carpal bone aplasia (HP:0004231)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Aplasia of metacarpal bones (HP:0010048)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Gene: LMBR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Short stature (HP:0004322)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Absent forearm (HP:0005632)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Short tibia (HP:0005736)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Short tibia (HP:0005736)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Short humerus (HP:0005792)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Short humerus (HP:0005792)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: 6 metacarpals (HP:0001501)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: 6 metacarpals (HP:0001501)
Associated disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Gene: LMBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: LMBR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: LMBR1
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Absent hand (HP:0004050)
Associated disease: ACHEIROPODY (OMIM:200500)
Gene: LMBR1
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Gene: LMBR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Short foot (HP:0001773)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)