TaoMedAI/RareMedData huggingface dataset:
Gene: KHK
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)
Gene: KHK
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)
Gene: KHK
Phenotype: Impairment of fructose metabolism (HP:0011033)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)
Gene: KHK
Phenotype: Impairment of fructose metabolism (HP:0011033)
Associated disease: FRUCTOSURIA, ESSENTIAL (OMIM:229800)
Gene: KHK
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)
Gene: KIF2A
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Agyria (HP:0031882)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Gene: KIF5A
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Clonic seizure (HP:0020221)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Gene: KIF5A
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Gene: KIF5A
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Impaired oral bolus formation (HP:0031146)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Gene: KIF5A
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Varicose veins (HP:0002619)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Poor suck (HP:0002033)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Chorea (HP:0002072)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Apnea (HP:0002104)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Gene: KIF5A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Athetosis (HP:0002305)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Spastic paraparetic gait (HP:0031958)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Dupuytren contracture (HP:0005679)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Gene: KIF5A
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Gene: KIF5A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Gene: KIF5A
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Gene: KIF5B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KIF5B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)