TaoMedAI/RareMedData huggingface dataset:
Gene: KIF22
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Scoliosis (HP:0002650)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Large joint dislocations (HP:0005008)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Wind-swept deformity of the knees (HP:0100531)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Neonatal inspiratory stridor (HP:0004875)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Aplasia/hypoplasia of the extremities (HP:0009815)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Caudal interpedicular narrowing (HP:0008457)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Fragmented epiphyses (HP:0100168)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Short stature (HP:0004322)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Soft skin (HP:0000977)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)