TaoMedAI/RareMedData huggingface dataset:
Gene: ARSA
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Reduced leukocyte arylsulfatase A activity (HP:0034863)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Seizure (HP:0001250)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Seizure (HP:0001250)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Seizure (HP:0001250)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Seizure (HP:0001250)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Hypotonia (HP:0001252)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Ataxia (HP:0001251)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Dysarthria (HP:0001260)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Dysarthria (HP:0001260)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Dysarthria (HP:0001260)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Spasticity (HP:0001257)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Spasticity (HP:0001257)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Spasticity (HP:0001257)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Dystonia (HP:0001332)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Dystonia (HP:0001332)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Dystonia (HP:0001332)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Dystonia (HP:0001332)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Intention tremor (HP:0002080)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Intention tremor (HP:0002080)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Chorea (HP:0002072)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Chorea (HP:0002072)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Babinski sign (HP:0003487)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Babinski sign (HP:0003487)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Babinski sign (HP:0003487)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Impaired cerebroside sulfate hydrolysis (HP:0034687)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Frequent falls (HP:0002359)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Frequent falls (HP:0002359)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Frequent falls (HP:0002359)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Developmental regression (HP:0002376)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Developmental regression (HP:0002376)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Loss of speech (HP:0002371)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Loss of speech (HP:0002371)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Loss of speech (HP:0002371)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Loss of speech (HP:0002371)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Memory impairment (HP:0002354)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Cholecystitis (HP:0001082)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Cholecystitis (HP:0001082)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Cholecystitis (HP:0001082)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Clumsiness (HP:0002312)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Gallbladder dysfunction (HP:0005609)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Hallucinations (HP:0000738)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Hallucinations (HP:0000738)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Hallucinations (HP:0000738)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Hallucinations (HP:0000738)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Short attention span (HP:0000736)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Short attention span (HP:0000736)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Delusion (HP:0000746)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Delusion (HP:0000746)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Delusion (HP:0000746)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Delusion (HP:0000746)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Depression (HP:0000716)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Emotional lability (HP:0000712)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Emotional lability (HP:0000712)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Emotional lability (HP:0000712)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Emotional lability (HP:0000712)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Dementia (HP:0000726)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Vegetative state (HP:0031358)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Vegetative state (HP:0031358)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)