TaoMedAI/RareMedData huggingface dataset:
Gene: LONP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Midline defect of the nose (HP:0004122)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Cataract (HP:0000518)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Ptosis (HP:0000508)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Talipes (HP:0001883)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB28
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Foveal atrophy (HP:0025010)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Foveal hyperpigmentation (HP:0008001)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: High myopia (HP:0011003)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Gene: RAB28
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAB28
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAB28
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Metacarpal periosteal thickening (HP:0006051)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Achilles tendon calcification (HP:0025441)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Polyuria (HP:0000103)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Headache (HP:0002315)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Polydipsia (HP:0001959)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Osteopenia (HP:0000938)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Fatigue (HP:0012378)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Gene: KL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NHERF1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: NHERF1
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Gene: KIF3B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Hyperautofluorescent retinal lesion (HP:0025158)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Esophageal varix (HP:0002040)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Abnormal light-adapted flicker electroretinogram (HP:0030473)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Retinal thinning (HP:0030329)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Gene: KIF3B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)