TaoMedAI/RareMedData huggingface dataset:
Gene: PDGFRB
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
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: PDGFRB
Phenotype: Calcification of the small brain vessels (HP:0002504)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Tall stature (HP:0000098)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Bone cyst (HP:0012062)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
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: PDGFRB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
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: PDGFRB
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Tremor (HP:0001337)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 1 (OMIM:228550)
Gene: PDGFRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Scoliosis (HP:0002650)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Scoliosis (HP:0002650)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Wormian bones (HP:0002645)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Osteolysis (HP:0002797)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
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: PDGFRB
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Rigidity (HP:0002063)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Migraine (HP:0002076)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
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: PDGFRB
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
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: PDGFRB
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Postural instability (HP:0002172)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Keloids (HP:0010562)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Thin calvarium (HP:0010539)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hyperextensibility of the knee (HP:0010500)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Narrow philtrum (HP:0011829)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Middle age onset (HP:0003596)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 1 (OMIM:228550)
Gene: PDGFRB
Phenotype: Congenital onset (HP:0003577)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Late onset (HP:0003584)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Fibroma (HP:0010614)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 1 (OMIM:228550)
Gene: PDGFRB
Phenotype: Fibroma (HP:0010614)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Fragile skin (HP:0001030)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
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: PDGFRB
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
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: PDGFRB
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
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: PDGFRB
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Skin nodule (HP:0200036)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Thickened skin (HP:0001072)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
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: PDGFRB
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: PDGFRB
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Athetosis (HP:0002305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Myofibromatosis (HP:0020135)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 1 (OMIM:228550)
Gene: PDGFRB
Phenotype: Myofibromatosis (HP:0020135)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Short palm (HP:0004279)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypotelorism (HP:0000601)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
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: PDGFRB
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: PDGFRB
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Micrographia (HP:0031908)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
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: PDGFRB
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Anxiety (HP:0000739)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Depression (HP:0000716)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Dementia (HP:0000726)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Childhood onset (HP:0011463)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Childhood onset (HP:0011463)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Young adult onset (HP:0011462)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
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: PDGFRB
Phenotype: Slender long bone (HP:0003100)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Short nose (HP:0003196)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Cervical ribs (HP:0000891)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Thin ribs (HP:0000883)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Joint contracture (HP:0034392)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Thin skin (HP:0000963)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Thin skin (HP:0000963)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Sarcoma (HP:0100242)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Sparse hair (HP:0008070)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Retrognathia (HP:0000278)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Mask-like facies (HP:0000298)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Overgrowth (HP:0001548)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)