TaoMedAI/RareMedData huggingface dataset:
Gene: CYP21A2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP24A1
Phenotype: Lethargy (HP:0001254)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Dehydration (HP:0001944)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP24A1
Phenotype: Weight loss (HP:0001824)
Associated disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Gene: CYP27A1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Long-tract sign (HP:0002423)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Spasticity (HP:0001257)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of the plantar skin of foot (HP:0100872)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Personality disorder (HP:0012075)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Dystonia (HP:0001332)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Elevated circulating bile alcohol concentration (HP:6000821)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Tuberous xanthoma (HP:0031290)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Elevated CSF cholestanol concentration (HP:6000203)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal cerebellar peduncle morphology (HP:0011931)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Myelopathy (HP:0002196)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Gliosis (HP:0002171)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Palatal tremor (HP:0010530)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal atrial septum morphology (HP:0011994)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Paraparesis (HP:0002385)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormality of the vertebral spinous processes (HP:0008516)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Elevated urinary bile alcohol level (HP:6001007)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Hallucinations (HP:0000738)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Short attention span (HP:0000736)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Delusion (HP:0000746)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Depression (HP:0000716)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Autism (HP:0000717)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Agitation (HP:0000713)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Delayed somatosensory central conduction time (HP:0100291)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Hypermyelinated retinal nerve fibers (HP:0007922)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Cataract (HP:0000518)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Gene: CYP27A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cerebrotendinous xanthomatosis; Sterol 27-hydroxylase deficiency; CTX (ORPHA:909)
Gene: CYP27B1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Generalized hypotonia (HP:0001290)
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: CYP27B1
Phenotype: Motor delay (HP:0001270)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Motor delay (HP:0001270)
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: CYP27B1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Gait disturbance (HP:0001288)
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: CYP27B1
Phenotype: Tetany (HP:0001281)
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: CYP27B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)