TaoMedAI/RareMedData huggingface dataset:
Gene: UBE3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: High palate (HP:0000218)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Growth delay (HP:0001510)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Low-set ears (HP:0000369)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Micrognathia (HP:0000347)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Astigmatism (HP:0000483)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Strabismus (HP:0000486)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Strabismus (HP:0000486)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Microcornea (HP:0000482)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Microcornea (HP:0000482)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Flat occiput (HP:0005469)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Telecanthus (HP:0000506)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Telecanthus (HP:0000506)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Ptosis (HP:0000508)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Long foot (HP:0001833)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Myopia (HP:0000545)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Myopia (HP:0000545)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: RSPRY1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Motor delay (HP:0001270)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short palm (HP:0004279)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Short stature (HP:0004322)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Hyperextensible hand joints (HP:0005639)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Short long bone (HP:0003026)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Slender long bone (HP:0003100)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short nose (HP:0003196)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Short nose (HP:0003196)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Gene: RSPRY1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPRY1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Gene: RSPRY1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPRY1
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)