eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| melas | ||||
| Disease ID | 201 |
|---|---|
| Disease | melas |
| Definition | A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117) |
| Synonym | juvenile myopathy, encephalopathy, lactic acidosis and stroke juvenile myopathy, encephalopathy, lactic acidosis and stroke (disorder) mela mela syndrome melas - mitochondrial encephalopathy, lactic acidosis and stroke-like episodes melas - mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes melas syndrome melas syndrome [disease/finding] mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (disorder) mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (disorder) mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial myopathy, lactic acidosis, stroke-like episode myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke syndrome melas syndrome, melas |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0162671 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0001125 | lactic acidosis | 4 C0038220 | status epilepticus | 2 C0004134 | ataxia | 1 C0014544 | epileptic seizures | 1 C0014544 | epilepsy | 1 C0155765 | microangiopathy | 1 C0010631 | cystadenocarcinoma | 1 C0043202 | wpw syndrome | 1 C0018784 | sensorineural hearing loss | 1 C0878544 | cardiomyopathy | 1 C0014544 | epileptic seizure | 1 C0043202 | wolff-parkinson-white syndrome | 1 C0040053 | thrombus | 1 C0022116 | ischemia | 1 C0026848 | myopathy | 1 C0162666 | mitochondrial encephalomyopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 197 | AHSG | 1.179 | DISEASES 23607 | CD2AP | 1.22 | DISEASES 55157 | DARS2 | 3.292 | DISEASES 2149 | F2R | 1.701 | DISEASES 84705 | GTPBP3 | 4.056 | DISEASES 3052 | HCCS | 1.281 | DISEASES 5654 | HTRA1 | 1.994 | DISEASES 56704 | JPH1 | 3.002 | DISEASES 51520 | LARS | 1.437 | DISEASES 4508 | MT-ATP6 | 3.833 | DISEASES 4509 | MT-ATP8 | 2.697 | DISEASES 4512 | MT-CO1 | 1.589 | DISEASES 4513 | MT-CO2 | 2.019 | DISEASES 4514 | MT-CO3 | 2.812 | DISEASES 4535 | MT-ND1 | 2.163 | DISEASES 4536 | MT-ND2 | 2.117 | DISEASES 4537 | MT-ND3 | 2.394 | DISEASES 4538 | MT-ND4 | 3.965 | DISEASES 4539 | MT-ND4L | 3.082 | DISEASES 4540 | MT-ND5 | 3.962 | DISEASES 4541 | MT-ND6 | 4.123 | DISEASES 25821 | MTO1 | 2.806 | DISEASES 4566 | MT-TK | 5.988 | DISEASES 4567 | MT-TL1 | 5.247 | DISEASES 4574 | MT-TS1 | 3.312 | DISEASES 4578 | MT-TW | 3.495 | DISEASES 4694 | NDUFA1 | 2.646 | DISEASES 4868 | NPHS1 | 1.051 | DISEASES 7827 | NPHS2 | 1.37 | DISEASES 22953 | P2RX2 | 2.76 | DISEASES 5542 | PRB1 | 3.045 | DISEASES 7019 | TFAM | 1.666 | DISEASES 7225 | TRPC6 | 1.673 | DISEASES 23038 | WDTC1 | 2.204 | DISEASES 2547 | XRCC6 | 1.536 | DISEASES |
| Locus | Symbol | Locus(Total Locus:14) |
| Disease ID | 201 |
|---|---|
| Disease | melas |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:116) HP:0001012 | Multiple lipomas HP:0010978 | Abnormality of immune system physiology HP:0004322 | Short stature HP:0002354 | Memory impairment HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0002204 | Pulmonary embolism HP:0003236 | Elevated serum creatine phosphokinase HP:0002401 | Stroke-like episodes HP:0002578 | Gastroparesis HP:0003287 | Abnormality of mitochondrial metabolism HP:0002024 | Malabsorption HP:0008872 | Feeding difficulties in infancy HP:0002353 | EEG abnormality HP:0002093 | Respiratory insufficiency HP:0011675 | Arrhythmia HP:0000252 | Microcephaly HP:0002230 | Generalized hirsutism HP:0007703 | Abnormality of retinal pigmentation HP:0004326 | Cachexia HP:0012377 | Hemianopsia HP:0001123 | Visual field defect HP:0000100 | Nephrotic syndrome HP:0000716 | Depression HP:0000649 | Abnormality of visual evoked potentials HP:0001252 | Muscular hypotonia HP:0001716 | Wolff-Parkinson-White syndrome HP:0008064 | Ichthyosis HP:0003202 | Skeletal muscle atrophy HP:0000821 | Hypothyroidism HP:0000662 | Nyctalopia HP:0000836 | Hyperthyroidism HP:0000670 | Carious teeth HP:0100543 | Cognitive impairment HP:0001733 | Pancreatitis HP:0000508 | Ptosis HP:0001260 | Dysarthria HP:0001251 | Ataxia HP:0009830 | Peripheral neuropathy HP:0000822 | Hypertension HP:0000164 | Abnormality of the teeth HP:0002120 | Cerebral cortical atrophy HP:0002804 | Arthrogryposis multiplex congenita HP:0002150 | Hypercalciuria HP:0007420 | Spontaneous hematomas HP:0002514 | Cerebral calcification HP:0000648 | Optic atrophy HP:0000829 | Hypoparathyroidism HP:0001324 | Muscle weakness HP:0002750 | Delayed skeletal maturation HP:0008207 | Primary adrenal insufficiency HP:0000212 | Gingival overgrowth HP:0000377 | Abnormality of the pinna HP:0002151 | Increased serum lactate HP:0000091 | Abnormality of the renal tubule HP:0100576 | Amaurosis fugax HP:0012378 | Fatigue HP:0002119 | Ventriculomegaly HP:0002027 | Abdominal pain HP:0001724 | Aortic dilatation HP:0100646 | Thyroiditis HP:0100820 | Glomerulopathy HP:0002167 | Neurological speech impairment HP:0000316 | Hypertelorism HP:0000407 | Sensorineural hearing impairment HP:0000739 | Anxiety HP:0002647 | Aortic dissection HP:0100651 | Type I diabetes mellitus HP:0001250 | Seizures HP:0003457 | EMG abnormality HP:0002169 | Clonus HP:0000823 | Delayed puberty HP:0002069 | Generalized tonic-clonic seizures HP:0002076 | Migraine HP:0000597 | Ophthalmoparesis HP:0000853 | Goiter HP:0001645 | Sudden cardiac death HP:0000505 | Visual impairment HP:0002104 | Apnea HP:0001103 | Abnormality of the macula HP:0003200 | Ragged-red muscle fibers HP:0000518 | Cataract HP:0002019 | Constipation HP:0002637 | Cerebral ischemia HP:0002376 | Developmental regression HP:0000093 | Proteinuria HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0002269 | Abnormality of neuronal migration HP:0003401 | Paresthesia HP:0005214 | Intestinal obstruction HP:0003326 | Myalgia HP:0001053 | Hypopigmented skin patches HP:0001332 | Dystonia HP:0001969 | Tubulointerstitial abnormality HP:0002017 | Nausea and vomiting HP:0001639 | Hypertrophic cardiomyopathy HP:0004372 | Reduced consciousness/confusion HP:0001315 | Reduced tendon reflexes HP:0005978 | Type II diabetes mellitus HP:0000298 | Mask-like facies HP:0003128 | Lactic acidosis HP:0001945 | Fever HP:0003737 | Mitochondrial myopathy HP:0007018 | Attention deficit hyperactivity disorder HP:0000762 | Decreased nerve conduction velocity HP:0000830 | Anterior hypopituitarism HP:0012722 | Heart block HP:0000717 | Autism HP:0000411 | Protruding ear HP:0001337 | Tremor HP:0000738 | Hallucinations HP:0000725 | Psychotic episodes HP:0002092 | Pulmonary arterial hypertension HP:0002381 | Aphasia HP:0002039 | Anorexia HP:0100613 | Death in early adulthood |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0001297 | Cerebral vascular events | 8 HP:0002401 | Strokelike episodes | 7 HP:0001941 | acidemia | 6 HP:0003128 | Lactic acidosis | 5 HP:0001250 | Seizures | 3 HP:0003287 | Abnormality of mitochondrial metabolism | 2 HP:0002133 | Status epilepticus | 2 HP:0100543 | Cognitive deficits | 1 HP:0002384 | Dyscognitive seizures | 1 HP:0003348 | Increased blood alanine | 1 HP:0007359 | Partial seizures | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000365 | Hearing impairment | 1 HP:0030516 | Homonymous hemianopia | 1 HP:0002315 | Headaches | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0001716 | Wolff-Parkinson-White syndrome | 1 HP:0000722 | Obsessive compulsive disorder | 1 HP:0003198 | Myopathic changes | 1 HP:0012377 | Hemianopia | 1 HP:0001251 | Ataxia | 1 HP:0002664 | Neoplasia | 1 HP:0003200 | Ragged-red fibers | 1 |
| Disease ID | 201 |
|---|---|
| Disease | melas |
| Manually Symptom | (Waiting for update.) |
| 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:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203885 | NA | 4558 | TRNF | umls:C0162671 | CLINVAR | NA | 0.12 | NA | NA | MT | 583 | G | A |
| rs199474657 | NA | 4567 | TRNL1 | umls:C0162671 | CLINVAR | NA | 0.249629949 | NA | NA | MT | 3243 | A | G |
| rs199474658 | NA | 4567 | TRNL1 | umls:C0162671 | CLINVAR | NA | 0.249629949 | NA | NA | MT | 3271 | T | C |
| rs199476107 | NA | 4541 | ND6 | umls:C0162671 | CLINVAR | NA | 0.240271442 | NA | ND6 | MT | 14453 | G | A |
| rs199476113 | NA | 4538 | ND4 | umls:C0162671 | CLINVAR | NA | 0.24 | NA | ND4 | MT | 11084 | A | G |
| rs199476122 | NA | 4535 | ND1 | umls:C0162671 | CLINVAR | NA | 0.243267234 | NA | ND1 | MT | 3697 | G | A |
| rs199476123 | NA | 4535 | ND1 | umls:C0162671 | CLINVAR | NA | 0.243267234 | NA | ND1 | MT | 3946 | G | A |
| rs199476124 | NA | 4535 | ND1 | umls:C0162671 | CLINVAR | NA | 0.243267234 | NA | ND1 | MT | 3949 | T | C |
| rs199476141 | NA | 4572 | TRNQ | umls:C0162671 | CLINVAR | NA | 0.120271442 | NA | NA | MT | 4332 | G | A |
| rs200077222 | NA | 4511 | TRNC | umls:C0162671 | CLINVAR | NA | 0.12 | NA | NA | MT | 5814 | T | C |
| rs267606894 | NA | 4540 | ND5 | umls:C0162671 | CLINVAR | NA | 0.241085767 | NA | ND5 | MT | 12770 | A | G |
| rs267606895 | NA | 4540 | ND5 | umls:C0162671 | CLINVAR | NA | 0.241085767 | NA | ND5 | MT | 13045 | A | C |
| rs267606896 | NA | 4540 | ND5 | umls:C0162671 | CLINVAR | NA | 0.241085767 | NA | ND5 | MT | 13084 | A | T |
| rs267606897 | NA | 4540 | ND5 | umls:C0162671 | CLINVAR | NA | 0.241085767 | NA | ND5 | MT | 13513 | G | A |
| rs267606898 | NA | 4540 | ND5 | umls:C0162671 | CLINVAR | NA | 0.241085767 | NA | ND5 | MT | 13042 | G | A |
| rs786205666 | NA | 4719 | NDUFS1 | umls:C0162671 | CLINVAR | NA | 0.12 | NA | NDUFS1 | 2 | 206145006 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:43) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0100651 | Type I diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0000648 | Optic 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:0002647 | Aortic dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0003287 | Abnormality of mitochondrial metabolism | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0003997 | tonic-clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| 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: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:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| HP:0007703 | Abnormality of retinal pigmentation | 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:0001103 | Abnormality of the macula | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0000649 | Abnormality of visual evoked potentials | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0003200 | Ragged-red muscle fibers | MP:0009417 | skeletal muscle atrophy | acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
| 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: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:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0000091 | Abnormality of the renal tubule | 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:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0002151 | Increased serum lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0003737 | Mitochondrial myopathy | MP:0000751 | myopathy | any abnormal condition or disease of the skeletal muscle |
| 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:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0000762 | Decreased nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0000377 | Abnormality of the pinna | 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:0001123 | Visual field defect | MP:0010402 | ventricular septal defect | abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions |
Mapped by homologous gene(Total Items:115) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000597 | Ophthalmoparesis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000091 | Abnormality of the renal tubule | 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:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003737 | Mitochondrial myopathy | 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:0001716 | Wolff-Parkinson-White syndrome | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002104 | Apnea | MP:0020187 | altered susceptibility to prion infection | altered 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:0001724 | Aortic dilatation | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001969 | Tubulointerstitial abnormality | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| 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:0000649 | Abnormality of visual evoked potentials | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002514 | Cerebral calcification | 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:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002151 | Increased serum lactate | 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:0003200 | Ragged-red muscle fibers | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000829 | Hypoparathyroidism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired 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:0012377 | Hemianopia | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0100646 | Thyroiditis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0100576 | Amaurosis fugax | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000762 | Decreased nerve conduction velocity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003287 | Abnormality of mitochondrial metabolism | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002150 | Hypercalciuria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007420 | Spontaneous hematomas | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002578 | Gastroparesis | 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: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:0002353 | EEG abnormality | 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:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000407 | Sensorineural hearing impairment | 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:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000298 | Mask-like facies | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100651 | Type I diabetes mellitus | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002647 | Aortic dissection | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0000505 | Visual impairment | 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:0002019 | Constipation | 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:0000830 | Anterior hypopituitarism | 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:0000648 | Optic atrophy | 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:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002381 | Aphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001103 | Abnormality of the macula | MP:0014185 | cerebellum atrophy | acquired 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000212 | Gingival overgrowth | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004326 | Cachexia | 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: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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004372 | Reduced consciousness/confusion | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001123 | Visual field defect | 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:0003128 | Lactic acidosis | 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:0002169 | Clonus | MP:0013401 | increased endometrial gland number | greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus |
| 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:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002069 | Generalized tonic-clonic seizures | 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:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000377 | Abnormality of the pinna | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002401 | Stroke-like episodes | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008872 | Feeding difficulties in infancy | 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:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000725 | Psychotic episodes | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000252 | Microcephaly | 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:0002204 | Pulmonary embolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| Disease ID | 201 |
|---|---|
| Disease | melas |
| Case | (Waiting for update.) |