eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| choreoacanthocytosis | ||||
| Disease ID | 310 |
|---|---|
| Disease | choreoacanthocytosis |
| Definition | An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21. |
| Synonym | acanthocytoses, chorea acanthocytosis with neurologic disorder acanthocytosis, chorea chac chorea acanthocytoses chorea acanthocytosis chorea acanthocytosis syndrome chorea acanthocytosis syndrome (disorder) chorea acanthocytosis syndromes chorea-acanthocytoses chorea-acanthocytosis choreoacanthocytoses choreoacanthocytosis (disorder) levine critchley syndrome levine-critchley syndrome neuroacanthocytosis neuroacanthocytosis [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0393576 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:79) 111 | ADCY5 | 2.06 | DISEASES 111 | ADCY5 | 1.978 | DISEASES 10533 | ATG7 | 1.394 | DISEASES 10533 | ATG7 | 1.312 | DISEASES 1822 | ATN1 | 1.647 | DISEASES 1822 | ATN1 | 1.565 | DISEASES 6311 | ATXN2 | 1.725 | DISEASES 6311 | ATXN2 | 1.644 | DISEASES 4287 | ATXN3 | 1.122 | DISEASES 4287 | ATXN3 | 1.041 | DISEASES 6314 | ATXN7 | 1.592 | DISEASES 6314 | ATXN7 | 1.511 | DISEASES 1038 | CDR1 | 1.819 | DISEASES 1038 | CDR1 | 1.738 | DISEASES 28514 | DLL1 | 3.21 | DISEASES 28514 | DLL1 | 2.974 | DISEASES 1756 | DMD | 1.351 | DISEASES 1756 | DMD | 1.27 | DISEASES 1908 | EDN3 | 1.178 | DISEASES 1995 | ELAVL3 | 1.679 | DISEASES 1995 | ELAVL3 | 1.598 | DISEASES 1996 | ELAVL4 | 1.89 | DISEASES 1996 | ELAVL4 | 1.808 | DISEASES 2035 | EPB41 | 1.641 | DISEASES 2512 | FTL | 1.852 | DISEASES 2512 | FTL | 1.77 | DISEASES 9846 | GAB2 | 1.857 | DISEASES 9846 | GAB2 | 1.776 | DISEASES 2566 | GABRG2 | 2.027 | DISEASES 2566 | GABRG2 | 1.945 | DISEASES 2643 | GCH1 | 2.339 | DISEASES 9630 | GNA14 | 4.465 | DISEASES 9630 | GNA14 | 4.384 | DISEASES 10243 | GPHN | 2.118 | DISEASES 10243 | GPHN | 2.037 | DISEASES 3052 | HCCS | 4.755 | DISEASES 3052 | HCCS | 4.139 | DISEASES 10013 | HDAC6 | 1.443 | DISEASES 10013 | HDAC6 | 1.361 | DISEASES 3064 | HTT | 2.397 | DISEASES 3064 | HTT | 2.316 | DISEASES 3736 | KCNA1 | 1.889 | DISEASES 3736 | KCNA1 | 1.808 | DISEASES 3792 | KEL | 5.403 | DISEASES 3792 | KEL | 3.822 | DISEASES 3908 | LAMA2 | 1.44 | DISEASES 3908 | LAMA2 | 1.358 | DISEASES 3916 | LAMP1 | 1.22 | DISEASES 3916 | LAMP1 | 1.138 | DISEASES 4067 | LYN | 3.378 | DISEASES 4067 | LYN | 3.296 | DISEASES 4099 | MAG | 1.266 | DISEASES 4099 | MAG | 1.184 | DISEASES 7080 | NKX2-1 | 1.757 | DISEASES 7080 | NKX2-1 | 1.675 | DISEASES 84876 | ORAI1 | 1.854 | DISEASES 84876 | ORAI1 | 1.772 | DISEASES 112476 | PRRT2 | 2.665 | DISEASES 112476 | PRRT2 | 2.583 | DISEASES 5879 | RAC1 | 2.289 | DISEASES 5879 | RAC1 | 2.208 | DISEASES 6446 | SGK1 | 1.406 | DISEASES 6446 | SGK1 | 1.325 | DISEASES 23583 | SMUG1 | 2.043 | DISEASES 23583 | SMUG1 | 1.749 | DISEASES 6850 | SYK | 1.801 | DISEASES 6850 | SYK | 1.72 | DISEASES 6863 | TAC1 | 1.569 | DISEASES 6863 | TAC1 | 1.091 | DISEASES 1861 | TOR1A | 1.522 | DISEASES 8408 | ULK1 | 1.777 | DISEASES 8408 | ULK1 | 1.695 | DISEASES 23230 | VPS13A | 8.443 | DISEASES 23230 | VPS13A | 8.361 | DISEASES 157680 | VPS13B | 2.807 | DISEASES 157680 | VPS13B | 2.725 | DISEASES 55187 | VPS13D | 4.978 | DISEASES 55187 | VPS13D | 4.896 | DISEASES 7504 | XK | 4.356 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) VPS13A | 9q21.2 |
| Disease ID | 310 |
|---|---|
| Disease | choreoacanthocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:64) HP:0000639 | Nystagmus HP:0100716 | Self-injurious behavior HP:0012086 | Abnormal urinary color HP:0000518 | Cataract HP:0000496 | Abnormality of eye movement HP:0012378 | Fatigue HP:0000183 | Difficulty in tongue movements HP:0004322 | Short stature HP:0100660 | Dyskinesia HP:0002119 | Ventriculomegaly HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0002354 | Memory impairment HP:0003198 | Myopathy HP:0002376 | Developmental regression HP:0002072 | Chorea HP:0001260 | Dysarthria HP:0008959 | Distal upper limb muscle weakness HP:0002205 | Recurrent respiratory infections HP:0006554 | Acute hepatic failure HP:0002716 | Lymphadenopathy HP:0100295 | Muscle fiber atrophy HP:0001251 | Ataxia HP:0003236 | Elevated serum creatine phosphokinase HP:0002167 | Neurological speech impairment HP:0009830 | Peripheral neuropathy HP:0001332 | Dystonia HP:0002017 | Nausea and vomiting HP:0002310 | Orofacial dyskinesia HP:0001639 | Hypertrophic cardiomyopathy HP:0002120 | Cerebral cortical atrophy HP:0001541 | Ascites HP:0000739 | Anxiety HP:0002024 | Malabsorption HP:0011968 | Feeding difficulties HP:0000478 | Abnormality of the eye HP:0003110 | Abnormality of urine homeostasis HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0003690 | Limb muscle weakness HP:0002633 | Vasculitis HP:0001288 | Gait disturbance HP:0003457 | EMG abnormality HP:0100022 | Abnormality of movement HP:0001284 | Areflexia HP:0007018 | Attention deficit hyperactivity disorder HP:0002240 | Hepatomegaly HP:0001760 | Abnormality of the foot HP:0000820 | Abnormality of the thyroid gland HP:0002360 | Sleep disturbance HP:0001892 | Abnormal bleeding HP:0001927 | Acanthocytosis HP:0001744 | Splenomegaly HP:0002910 | Elevated hepatic transaminases HP:0010526 | Dysgraphia HP:0000504 | Abnormality of vision HP:0008955 | Progressive distal muscular atrophy HP:0001324 | Muscle weakness HP:0001337 | Tremor HP:0010808 | Protruding tongue HP:0001252 | Muscular hypotonia HP:0000980 | Pallor HP:0100613 | Death in early adulthood HP:0001877 | Abnormality of erythrocytes |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002072 | Chorea | 5 HP:0001927 | Acanthocytosis | 3 HP:0100033 | Tic disorder | 1 HP:0002310 | Orofacial dyskinesias | 1 HP:0100660 | Dyskinesis | 1 HP:0100022 | Movement disorder | 1 HP:0001332 | Dystonia | 1 |
| Disease ID | 310 |
|---|---|
| Disease | choreoacanthocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119477052 | NA | 23230 | VPS13A | umls:C0393576 | CLINVAR | NA | 0.565428837 | NA | VPS13A | 9 | 77205394 | T | A,C |
| rs119477053 | NA | 23230 | VPS13A | umls:C0393576 | CLINVAR | NA | 0.565428837 | NA | VPS13A | 9 | 77213240 | C | T |
| rs28939379 | 11381253 | 23230 | VPS13A | umls:C0393576 | UNIPROT | We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. | 0.565428837 | 2001 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100295 | Muscle fiber atrophy | MP:0009414 | skeletal muscle fiber necrosis | morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage |
| HP:0010808 | Protruding tongue | MP:0000762 | abnormal tongue morphology | any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0003110 | Abnormality of urine homeostasis | MP:0009643 | abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| HP:0003690 | Limb muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0006554 | Acute hepatic failure | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any 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:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000183 | Difficulty in tongue movements | MP:0004936 | impaired branching involved in ureteric bud morphogenesis | partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001877 | Abnormality of erythrocytes | MP:0003242 | loss of basal ganglia neurons | loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event |
| HP:0008959 | Distal upper limb muscle weakness | MP:0005598 | decreased ventricle muscle contractility | reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired 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:0000820 | Abnormality of the thyroid gland | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:62) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006554 | Acute hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008955 | Progressive distal muscular atrophy | MP:0012232 | abnormal ceramide level | |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any 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:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000820 | Abnormality of the thyroid gland | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002310 | Orofacial dyskinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any 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:0003110 | Abnormality of urine homeostasis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000183 | Difficulty in tongue movements | MP:0012506 | brain atrophy | acquired 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:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001877 | Abnormality of erythrocytes | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003690 | Limb muscle weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100613 | Death in early adulthood | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased 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:0010808 | Protruding tongue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100295 | Muscle fiber atrophy | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft 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:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008959 | Distal upper limb muscle weakness | MP:0011704 | decreased fibroblast proliferation | reduction in the expansion rate of a fibroblast cell population by cell division |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001927 | Acanthocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100660 | Dyskinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 310 |
|---|---|
| Disease | choreoacanthocytosis |
| Case | (Waiting for update.) |