TaoMedAI/RareMedData huggingface dataset:
Gene: CYP2R1
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Irritability (HP:0000737)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Childhood onset (HP:0011463)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Subperiosteal bone resorption (HP:0003106)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Bulging of the costochondral junction (HP:0000893)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Irregular, rachitic-like metaphyses (HP:0005042)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Growth delay (HP:0001510)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Genu varum (HP:0002970)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Flat occiput (HP:0005469)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP2R1
Phenotype: Flat occiput (HP:0005469)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK2
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Hyposmia (HP:0004409)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)