TaoMedAI/RareMedData huggingface dataset:
Gene: PDE6H
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6H
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6H
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6H
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6H
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6H
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6H
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDGFB
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PDGFB
Phenotype: Calcification of the small brain vessels (HP:0002504)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Tremor (HP:0001337)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PDGFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Rigidity (HP:0002063)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Migraine (HP:0002076)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Postural tremor (HP:0002174)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Postural instability (HP:0002172)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Middle age onset (HP:0003596)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Adult onset (HP:0003581)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PDGFB
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Hand tremor (HP:0002378)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Vertigo (HP:0002321)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Dyskinesia (HP:0100660)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Thickened skin (HP:0001072)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Thalamic calcification (HP:0025041)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Erythema (HP:0010783)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Athetosis (HP:0002305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Athetosis (HP:0002305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Micrographia (HP:0031908)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Motor tics (HP:0100034)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Anxiety (HP:0000739)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Apathy (HP:0000741)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Dementia (HP:0000726)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Childhood onset (HP:0011463)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Childhood onset (HP:0011463)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Young adult onset (HP:0011462)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Gene: PDGFB
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Fibrosarcoma (HP:0100244)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFB
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)