TaoMedAI/RareMedData huggingface dataset:
Gene: SPARC
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPARC
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
Gene: SPARC
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPARC
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
Gene: SPARC
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPARC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPARC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SPARC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPARC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPARC
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPARC
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SPAST
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Low back pain (HP:0003419)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Paraplegia (HP:0010550)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Insidious onset (HP:0003587)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Disinhibition (HP:0000734)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Apathy (HP:0000741)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Depression (HP:0000716)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Agitation (HP:0000713)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Dementia (HP:0000726)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPAST
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Gene: SPAST
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Gene: SPG7
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Spasticity (HP:0001257)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Slurred speech (HP:0001350)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Spastic gait (HP:0002064)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Spastic gait (HP:0002064)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Babinski sign (HP:0003487)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Postural instability (HP:0002172)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Weakness due to upper motor neuron dysfunction (HP:0010549)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Adult onset (HP:0003581)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Loss of speech (HP:0002371)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Memory impairment (HP:0002354)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Adult-onset PLS; PLS; Primary lateral sclerosis; Adult-onset primary lateral sclerosis (ORPHA:35689)
Gene: SPG7
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Gene: SPG7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPG7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Gene: SPI1
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)