TaoMedAI/RareMedData huggingface dataset:
Gene: OSTM1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Square face (HP:0000321)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Decreased osteoclast count (HP:0030328)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Proptosis (HP:0000520)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: ACAD9
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Stroke (HP:0001297)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Myalgia (HP:0003326)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Cerebral edema (HP:0002181)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Myopathy (HP:0003198)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: ACAD9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
Gene: ACAD9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Gene: IFT81
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Syndactyly (HP:0001159)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Prominent occiput (HP:0000269)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Omphalocele (HP:0001539)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)