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encyclopedia of Rare Disease Annotation for Precision Medicine



   cerebrotendinous xanthomatosis
  

Disease ID 155
Disease cerebrotendinous xanthomatosis
Definition
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Synonym
bogaert-scherer-epstein disease, van
cerebral cholesterinoses
cerebral cholesterinosis
cerebrotendinous cholesterinosis
cerebrotendinous xanthomatoses
cholestanol storage disease
cholestanol storage disease (disorder)
cholestanolosis
ctx - cerebrotendinous xanthomatosis
disease, van bogaert-scherer-epstein
van bogaert scherer epstein dis
van bogaert scherer epstein disease
van bogaert-scherer-epstein disease
van bogaert-scherer-epstein syndrome
von bogaert disease
xanthomatoses, cerebrotendinous
xanthomatosis, cerebrotendinous
xanthomatosis, cerebrotendinous [disease/finding]
Orphanet
OMIM
DOID
UMLS
C0238052
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:8)
C0272286  |  immune thrombocytopenia  |  1
C0152025  |  polyneuropathy  |  1
C0155626  |  acute myocardial infarction  |  1
C0027051  |  myocardial infarction  |  1
C0014544  |  epilepsy  |  1
C0027051  |  myocardial infarct  |  1
C0013421  |  dystonia  |  1
C0086543  |  cataract  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1593  |  CYP27A1  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:30)
55750  |  AGK  |  2.762  |  DISEASES
336  |  APOA2  |  2.25  |  DISEASES
337  |  APOA4  |  1.765  |  DISEASES
347  |  APOD  |  1.991  |  DISEASES
617  |  BCS1L  |  1.54  |  DISEASES
629  |  CFB  |  1.48  |  DISEASES
1555  |  CYP2B6  |  1.046  |  DISEASES
1576  |  CYP3A4  |  2.16  |  DISEASES
1718  |  DHCR24  |  2.984  |  DISEASES
1969  |  EPHA2  |  1.277  |  DISEASES
2317  |  FLNB  |  2.08  |  DISEASES
2318  |  FLNC  |  1.003  |  DISEASES
1880  |  GPR183  |  3.061  |  DISEASES
3778  |  KCNMA1  |  1.559  |  DISEASES
9314  |  KLF4  |  1.083  |  DISEASES
9361  |  LONP1  |  2.333  |  DISEASES
1130  |  LYST  |  2.291  |  DISEASES
4566  |  MT-TK  |  1.18  |  DISEASES
4700  |  NDUFA6  |  1.724  |  DISEASES
10062  |  NR1H3  |  2.002  |  DISEASES
9971  |  NR1H4  |  2.471  |  DISEASES
8856  |  NR1I2  |  3.365  |  DISEASES
5160  |  PDHA1  |  2.229  |  DISEASES
5830  |  PEX5  |  1.743  |  DISEASES
56980  |  PRDM10  |  2.267  |  DISEASES
55328  |  RNLS  |  2.31  |  DISEASES
6342  |  SCP2  |  2.485  |  DISEASES
6513  |  SLC2A1  |  1.52  |  DISEASES
6667  |  SP1  |  1.167  |  DISEASES
83889  |  WDR87  |  4.37  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
CYP27A1  |  2q35
Disease ID 155
Disease cerebrotendinous xanthomatosis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:54)
HP:0003107  |  Abnormality of cholesterol metabolism
HP:0000787  |  Nephrolithiasis
HP:0001336  |  Myoclonus
HP:0000518  |  Cataract
HP:0000738  |  Sensory hallucination
HP:0007256  |  Abnormal pyramidal signs
HP:0000746  |  Delusions
HP:0003124  |  Hypercholesterolemia
HP:0002376  |  Developmental regression
HP:0001373  |  Joint dislocation
HP:0010845  |  EEG: generalised slow activity
HP:0001257  |  Spasticity
HP:0002059  |  Degeneration of cerebrum
HP:0001251  |  Ataxia
HP:0002014  |  Diarrhea
HP:0002167  |  Neurological speech impairment
HP:0009830  |  Peripheral neuropathy
HP:0001332  |  Dystonia
HP:0009830  |  Peripheral neuritis
HP:0002518  |  Abnormality of the periventricular white matter
HP:0001114  |  Fatty deposits on eyelids
HP:0001081  |  Gallstones
HP:0001249  |  Mental retardation
HP:0001681  |  Angina pectoris
HP:0000478  |  Abnormality of the eye
HP:0002024  |  Malabsorption
HP:0001250  |  Seizures
HP:0000708  |  Behavioral abnormality
HP:0002071  |  Abnormality of extrapyramidal motor function
HP:0002353  |  EEG abnormality
HP:0000543  |  Pale optic disc
HP:0001658  |  Myocardial infarction
HP:0001396  |  Cholestasis
HP:0100291  |  Abnormality of central somatosensory evoked potentials
HP:0001114  |  Xanthelasma
HP:0000939  |  Osteoporosis
HP:0000726  |  Dementia
HP:0002514  |  Cerebral calcification
HP:0000991  |  Xanthomatosis
HP:0001249  |  Intellectual disability
HP:0000504  |  Abnormality of vision
HP:0007024  |  Pseudobulbar palsy
HP:0001324  |  Muscle weakness
HP:0001347  |  Hyperreflexia
HP:0001337  |  Tremor
HP:0001387  |  Joint stiffness
HP:0003482  |  EMG: axonal abnormality
HP:0001272  |  Cerebellar atrophy
HP:0000716  |  Depression
HP:0000738  |  Hallucinations
HP:0010874  |  Tendon xanthomatosis
HP:0100321  |  Abnormality of the dentate nucleus
HP:0002093  |  progressive respiratory failure
HP:0002621  |  Atherosclerosis
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:8)
HP:0100561  |  Spinal cord lesion  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0001973  |  Autoimmune thrombocytopenia  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0001300  |  Parkinsonism  |  1
HP:0001332  |  Dystonia  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0000518  |  Cataract  |  1
Disease ID 155
Disease cerebrotendinous xanthomatosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C2678504  |  osteoporosis
C1963826  |  mitochondrial enzyme deficiency
C1956346  |  coronary artery disease
C0302314  |  xanthomata
C0302314  |  xanthomas
C0270922  |  demyelinating peripheral neuropathy
C0242422  |  parkinsonism
C0086437  |  joint hypermobility
C0031117  |  peripheral neuropathy
C0027709  |  nephrocalcinosis
C0010068  |  coronary heart disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0302314  |  xanthomas  |  1
C0242422  |  parkinsonism  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:52)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121908096NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814186CA,T
rs121908097NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814702GA
rs121908098NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814701CT
rs121908099NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814409GA
rs12190809991869051593CYP27A1umls:C0238052UNIPROTNovel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.0.5172570571997CYP27A12218814409GA
rs121908102NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218813095CT
rs200553205NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218813096GA,C
rs200883871NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814696GC
rs201114717NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809700CG,T
rs201346271NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812421GC
rs376230356NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809701GA
rs397515353NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812923GA
rs397515354NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812750GA,C
rs397515355NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814459GA
rs397515356NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218813023TGGCC-
rs41272687NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814154CT
rs573951598NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814408CT
rs587778777NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814188GA
rs587778778NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814187GA
rs587778779NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814379GT
rs587778780NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814397CG
rs587778781NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814404CG
rs587778782NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814417GT
rs587778783NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814433TA
rs587778784NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814463GT
rs587778785NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814544GA
rs587778787NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814683CT
rs587778790NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809626C-
rs587778793NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809676C-
rs587778794NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809690GTACCCA-
rs587778795NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809754GA
rs587778796NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809756GT
rs587778797NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809768GA
rs587778800NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812358GT
rs587778802NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218782187-C
rs587778804NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812551GT
rs587778807NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218782255G-
rs587778808NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812657CA
rs587778810NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812684GA
rs587778812NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812724T-
rs587778815NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812942A-
rs587778818NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809731GA
rs72551312NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809730CT
rs72551313NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218809755GA
rs72551314NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812250CT
rs72551315NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812596CT
rs72551316NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812650CT
rs72551317NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812681AG
rs72551318NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812713CG,T
rs72551319NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218812929AT
rs72551320NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814064AG
rs72551322NA1593CYP27A1umls:C0238052CLINVARNA0.517257057NACYP27A12218814716CA,G,T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:11)
HP ID HP Name MP ID MP Name Annotation
HP:0001272Cerebellar atrophyMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0007256Abnormal pyramidal signsMP:0009940abnormal hippocampus pyramidal cell morphologyany structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from
HP:0001387Joint stiffnessMP:0003098decreased tendon stiffnessreduced ability of tendon to maintain tensile strength and load
HP:0002059Cerebral atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0000478Abnormality of the eyeMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0000504Abnormality of visionMP:0012528abnormal zone of polarizing activity morphologyany structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the
HP:0001324Muscle weaknessMP:0000746weaknessstate of being infirm or less strong than normal
HP:0003107Abnormality of cholesterol metabolismMP:0010161decreased brain cholesterol levelless than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found i
HP:0002518Abnormality of the periventricular white matterMP:0012129failure of blastocyst formationinability to form a blastocyst from a solid ball of cells known as a morula
HP:0002071Abnormality of extrapyramidal motor functionMP:0009403increased variability of skeletal muscle fiber sizegreater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls
HP:0000543Optic disc pallorMP:0008259abnormal optic disc morphologyany structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
Mapped by homologous gene(Total Items:50)
HP ID HP Name MP ID MP Name Annotation
HP:0010874Tendon xanthomatosisMP:0011231abnormal vitamin E levelany anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
HP:0001114XanthelasmaMP:0011231abnormal vitamin E levelany anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0009830Peripheral neuropathyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001272Cerebellar atrophyMP:0020187altered susceptibility to prion infectionaltered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0001081CholelithiasisMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001336MyoclonusMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002024MalabsorptionMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001396CholestasisMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0000991XanthomatosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0010845EEG with generalized slow activityMP:0011228abnormal vitamin D levelany anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin
HP:0001257SpasticityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000518CataractMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000543Optic disc pallorMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001337TremorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000939OsteoporosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002014DiarrheaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001373Joint dislocationMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001324Muscle weaknessMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000746DelusionsMP:0020187altered susceptibility to prion infectionaltered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0007256Abnormal pyramidal signsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002621AtherosclerosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0100291Abnormality of central somatosensory evoked potentialsMP:0011228abnormal vitamin D levelany anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000787NephrolithiasisMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002376Developmental regressionMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0001332DystoniaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003107Abnormality of cholesterol metabolismMP:0013600testis degenerationa retrogressive impairment of function or destruction of either or both of the male reproductive glands
HP:0002071Abnormality of extrapyramidal motor functionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002514Cerebral calcificationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002167Neurological speech impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001658Myocardial infarctionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000726DementiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000504Abnormality of visionMP:0013545cleft hard palatecleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones
HP:0000738HallucinationsMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002518Abnormality of the periventricular white matterMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0001387Joint stiffnessMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000716DepressionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002059Cerebral atrophyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000478Abnormality of the eyeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0003124HypercholesterolemiaMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0100321Abnormality of the dentate nucleusMP:0011228abnormal vitamin D levelany anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin
HP:0003482EMG: axonal abnormalityMP:0011228abnormal vitamin D levelany anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin
HP:0007024Pseudobulbar paralysisMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001681Angina pectorisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 155
Disease cerebrotendinous xanthomatosis
Case(Waiting for update.)