Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Abnormality of metabolism/homeostasis (HP:0001939)

Term ID:	1939
Name:	Abnormality of metabolism/homeostasis
Synonym:	Laboratory abnormality; Metabolism abnormality
Definition:
Comments:
Reference:	HP:0001939
Genes and Diseases:	There are 1741 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of Krebs cycle metabolism (HP:0000816) ................... HP:0003209 Decreased pyruvate carboxylase activity ................... HP:0003210 Decreased methylmalonyl-CoA mutase activity ................... HP:0003536 Decreased fumarate hydratase activity
........Ketosis (HP:0001946) ................... HP:0001993 Ketoacidosis ................... HP:0410175 Ketonemia
........Hyperbilirubinemia (HP:0002904) ................... HP:0002908 Conjugated hyperbilirubinemia ................... HP:0003265 Neonatal hyperbilirubinemia ................... HP:0003573 Increased total bilirubin ................... HP:0008176 Neonatal unconjugated hyperbilirubinemia ................... HP:0008282 Unconjugated hyperbilirubinemia
........Abnormality of urine homeostasis (HP:0003110) ................... HP:0000093 Proteinuria ................... HP:0002913 Myoglobinuria ................... HP:0002919 Ketonuria ................... HP:0003149 Hyperuricosuria ................... HP:0003158 Hyposthenuria ................... HP:0003456 Low urinary cyclic AMP response to PTH administration ................... HP:0003491 Elevated urine pyrophosphate ................... HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption ................... HP:0003541 Urinary glycosaminoglycan excretion ................... HP:0003606 Absent urinary urothione ................... HP:0003614 Trimethylaminuria ................... HP:0003641 Hemoglobinuria ................... HP:0011016 Abnormality of urine glucose concentration ................... HP:0011279 Abnormality of urine bicarbonate concentration ................... HP:0011281 Abnormality of urine catecholamine concentration ................... HP:0011942 Increased urinary sulfite ................... HP:0011943 Increased urinary thiosulfate ................... HP:0012072 Aciduria ................... HP:0012073 Abnormal urinary acylglycine profile ................... HP:0012086 Abnormal urinary color ................... HP:0012088 Abnormal urinary odor ................... HP:0012401 Abnormal urine alpha-ketoglutarate concentration ................... HP:0012404 Abnormal urine citrate concentration ................... HP:0012461 Bacteriuria ................... HP:0012543 Hemosiderinuria ................... HP:0012591 Abnormal urinary electrolyte concentration ................... HP:0012610 Abnormality of urinary uric acid concentration ................... HP:0012612 Abnormal urinary sulfate concentration ................... HP:0012614 Abnormal urine cytology ................... HP:0031504 Foamy urine ................... HP:0031811 Bilirubinuria ................... HP:0031812 Nitrituria ................... HP:0031890 Increased urine urobilinogen ................... HP:0040301 Increased urinary glycerol
........Abnormality of ion homeostasis (HP:0003111) ................... HP:0010929 Abnormality of cation homeostasis ................... HP:0011422 Abnormality of chloride homeostasis ................... HP:0100529 Abnormality of phosphate homeostasis
........Abnormality of lipid metabolism (HP:0003119) ................... HP:0003077 Hyperlipidemia ................... HP:0003107 Abnormality of cholesterol metabolism ................... HP:0004359 Abnormality of fatty-acid metabolism ................... HP:0008158 Hyperapobetalipoproteinemia ................... HP:0010968 Abnormality of liposaccharide metabolism ................... HP:0040176 Abnormal level of phospholipids ................... HP:0045014 Hypolipidemia
........Glutathione synthetase deficiency (HP:0003343)
........Delayed oxidation of acetaldehyde (HP:0003533)
........Molybdenum cofactor deficiency (HP:0003570)
........Abnormality of carboxylic acid metabolism (HP:0004354) ................... HP:0002932 Aldehyde oxidase deficiency ................... HP:0004337 Abnormality of amino acid metabolism ................... HP:0010995 Abnormality of dicarboxylic acid metabolism ................... HP:0010996 Abnormality of monocarboxylic acid metabolism ................... HP:0040156 Elevated urinary carboxylic acid ................... HP:0410063 Increased level of galactonate in red blood cells ................... HP:0410065 Increased level of hippuric acid in blood ................... HP:0410066 Increased level of hippuric acid in urine
........Abnormality of superoxide metabolism (HP:0004358) ................... HP:0003206 Decreased activity of NADPH oxidase
........Abnormality of acid-base homeostasis (HP:0004360) ................... HP:0001941 Acidosis ................... HP:0001948 Alkalosis
........Abnormality of nitrogen compound homeostasis (HP:0004364) ................... HP:0001951 Episodic ammonia intoxication ................... HP:0002157 Azotemia ................... HP:0003149 Hyperuricosuria ................... HP:0012100 Abnormal circulating creatinine level ................... HP:0012237 Urocanic aciduria ................... HP:0040206 Abnormal level of neopterin ................... HP:0040210 Abnormal level of biopterin ................... HP:0100493 Hypoammonemia ................... HP:0410052 Increased level of allantoin in serum
........Abnormality of glycoprotein metabolism (HP:0004367) ................... HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II ................... HP:0004355 Abnormality of proteoglycan metabolism
........Abnormality of temperature regulation (HP:0004370) ................... HP:0001945 Fever ................... HP:0002045 Hypothermia ................... HP:0002046 Heat intolerance ................... HP:0002047 Malignant hyperthermia ................... HP:0005968 Temperature instability ................... HP:0006901 Impaired thermal sensitivity
........Abnormality of the heme biosynthetic pathway (HP:0010472) ................... HP:0003163 Elevated urinary delta-aminolevulinic acid ................... HP:0010473 Porphyrinuria ................... HP:0012187 Increased erythrocyte protoporphyrin concentration ................... HP:0012217 Increased urinary porphobilinogen
........Abnormality of circulating protein level (HP:0010876) ................... HP:0002152 Hyperproteinemia ................... HP:0003075 Hypoproteinemia ................... HP:0003238 Hyperpepsinogenemia I ................... HP:0005559 Abnormality of the kinin-kallikrein system ................... HP:0011021 Abnormality of circulating enzyme level ................... HP:0011227 Elevated C-reactive protein level ................... HP:0012116 Abnormal albumin level ................... HP:0012509 Reduced thyroxin-binding globulin ................... HP:0025020 Elevated prostate-specific antigen level ................... HP:0025201 Abnormal apolipoprotein level ................... HP:0025465 Abnormal circulating beta globulin level ................... HP:0025483 Abnormal circulating thyroglobulin level ................... HP:0031029 Elevated carcinoembryonic antigen level ................... HP:0031030 Elevated carcinoma antigen 125 level ................... HP:0031031 Abnormal retinol-binding protein level ................... HP:0031034 Abnormal insulin like growth factor binding protein acid labile subunit level ................... HP:0031036 Reduced growth-hormone binding protein level ................... HP:0031037 Reduced insulin-like factor 3 level ................... HP:0031085 Decreased prealbumin level ................... HP:0031138 Abnormal B-type natriuretic peptide level ................... HP:0031222 Increased circulating thyroxine-binding globulin level ................... HP:0031419 Reduced sex -hormone binding protein level ................... HP:0031424 Abnormal circulating beta-C-terminal telopeptide level ................... HP:0031875 Abnormal hepcidin level ................... HP:0045056 Abnormal levels of alpha-fetoprotein
........Abnormality of nucleobase metabolism (HP:0010932) ................... HP:0003240 Increased phosphoribosylpyrophosphate synthetase ................... HP:0004352 Abnormality of purine metabolism ................... HP:0004353 Abnormality of pyrimidine metabolism
........Abnormality of carbohydrate metabolism/homeostasis (HP:0011013) ................... HP:0003258 Glyoxalase deficiency ................... HP:0003649 Abnormality of glycoside metabolism ................... HP:0004366 Abnormality of glycolysis ................... HP:0004915 Impairment of galactose metabolism ................... HP:0010471 Oligosacchariduria ................... HP:0011012 Abnormality of polysaccharide metabolism ................... HP:0011014 Abnormal glucose homeostasis ................... HP:0011033 Impairment of fructose metabolism ................... HP:0012067 Glycopeptiduria ................... HP:0012345 Abnormal glycosylation ................... HP:0025157 Increased urinary sedoheptulose ................... HP:0025550 Elevated circulating ribitol concentration ................... HP:0031795 Abnormal circulating glycerol level ................... HP:0410050 Decreased level of 1,5 anhydroglucitol in serum ................... HP:0410055 Decreased level of erythritol in urine ................... HP:0410056 Decreased level of erythritol in CSF ................... HP:0410057 Increased level of D-threitol in plasma ................... HP:0410058 Increased level of D-threitol in CSF ................... HP:0410059 Increased level of D-threitol in urine ................... HP:0410060 Decreased level of D-mannose in urine ................... HP:0410061 Increased level of galactitol in plasma ................... HP:0410062 Increased level of galactitol in urine ................... HP:0410064 Increased level of galactitol in red blood cells ................... HP:0410067 Increased level of L-fucose in urine ................... HP:0410070 Increased level of ribitol in urine ................... HP:0410071 Increased level of ribitol in CSF ................... HP:0410072 Increased level of ribose in urine ................... HP:0410073 Increased level of ribose in CSF ................... HP:0410074 Increased level of xylitol in urine ................... HP:0410075 Increased level of xylitol in CSF ................... HP:0410156 Increased level of N-acetylneuraminic acid in urine ................... HP:0410157 Increased level of N-acetylneuraminic acid in fibroblasts ................... HP:0410176 Abnormal glucose-6-phosphate dehydrogenase level
........Abnormality of cell physiology (HP:0011017) ................... HP:0002916 Abnormality of chromosome segregation ................... HP:0003204 Intracellular accumulation of autofluorescent lipopigment storage material ................... HP:0003220 Abnormality of chromosome stability ................... HP:0003224 Increased cellular sensitivity to UV light ................... HP:0003254 Abnormality of DNA repair ................... HP:0004356 Abnormality of lysosomal metabolism ................... HP:0005372 Abnormality of B cell physiology ................... HP:0011018 Abnormality of the cell cycle ................... HP:0011019 Abnormality of chromosome condensation ................... HP:0011133 Increased sensitivity to ionizing radiation ................... HP:0011840 Abnormality of T cell physiology ................... HP:0012103 Abnormality of the mitochondrion
........Abnormality of fluid regulation (HP:0011032) ................... HP:0000969 Edema ................... HP:0001944 Dehydration
........Amyloidosis (HP:0011034) ................... HP:0001917 Renal amyloidosis ................... HP:0003216 Generalized amyloid deposition ................... HP:0010637 Conjunctival amyloidosis ................... HP:0011970 Cerebral amyloid angiopathy ................... HP:0012280 Hepatic amyloidosis ................... HP:0012309 Cutaneous amyloidosis ................... HP:0030843 Cardiac amyloidosis ................... HP:0100292 Amyloidosis of peripheral nerves
........Abnormal homeostasis (HP:0012337) ................... HP:0012338 Abnormal energy expenditure
........Abnormal enzyme/coenzyme activity (HP:0012379) ................... HP:0004379 Abnormality of alkaline phosphatase activity ................... HP:0012380 Reduced carnitine O-palmitoyltransferase activity ................... HP:0012400 Abnormal aldolase level ................... HP:0012517 Reduced catalase activity ................... HP:0025130 Decreased small intestinal mucosa lactase activity ................... HP:0025433 Decreased lecithin cholesterol acyl transferase activity ................... HP:0030272 Abnormal erythrocyte enzyme activity ................... HP:0030948 Elevated gamma-glutamyltransferase activity ................... HP:0031205 Reduced lysosomal acid lipase activity ................... HP:0031209 Decreased lipoprotein lipase activity ................... HP:0031821 Abnormal hypoxanthine-guanine phosphoribosyltransferase level ................... HP:0031835 Abnormal superoxide dismutase activity ................... HP:0031900 Abnormal serum mast cell beta-tryptase concentration ................... HP:0040175 Platelet-activating factor acetylhydrolase deficiency ................... HP:0045040 Abnormal lactate dehydrogenase activity ................... HP:0410144 Abnormal biotinidase activity ................... HP:0410192 Abnormal uridine diphosphate glucose-4-epimerase activity
........Food intolerance (HP:0012537) ................... HP:0001984 Intolerance to protein
........Abnormal erythrocyte sedimentation rate (HP:0025021) ................... HP:0003565 Elevated erythrocyte sedimentation rate ................... HP:0025022 Decreased erythrocyte sedimentation rate
........Presence of xenobiotic (HP:0031838) ................... HP:0031840 Urine xenobiotic ................... HP:0410172 Blood xenobiotic ................... HP:0500097 Stool xenobiotic ................... HP:0500099 Hair xenobiotic ................... HP:0500101 Gastric fluid xenobiotic
........Bloodstream infectious agent (HP:0031863) ................... HP:0031864 Bacteremia
........Abnormal serum selenium concentration (HP:0031903)
........Abnormal sweat homeostasis (HP:0040127) ................... HP:0012236 Elevated sweat chloride ................... HP:0040128 Abnormal sweat electrolytes
........5-oxoprolinase deficiency (HP:0040142)
........Abnormality of vitamin metabolism (HP:0100508) ................... HP:0004340 Abnormality of vitamin B metabolism ................... HP:0008372 Abnormality of vitamin A metabolism ................... HP:0010894 Abnormality of serine family amino acid metabolism ................... HP:0100509 Abnormality of vitamin C metabolism ................... HP:0100511 Abnormality of vitamin D metabolism ................... HP:0100514 Abnormality of vitamin E metabolism ................... HP:0100831 Abnormality of vitamin K metabolism
........Abnormality of calcium-phosphate metabolism (HP:0100530) ................... HP:0003165 Elevated circulating parathyroid hormone level ................... HP:0003528 Elevated calcitonin ................... HP:0031817 Decreased circulating parathyroid hormone level
........Gangrene (HP:0100758)
........Increased level of propylene glycol in blood (HP:0410069)
Sister Nodes:
..Abnormal cellular phenotype (HP:0025354)
..Abnormality of blood and blood-forming tissues (HP:0001871)
..Abnormality of connective tissue (HP:0003549)
..Abnormality of head or neck (HP:0000152)
..Abnormality of limbs (HP:0040064)
..Abnormality of prenatal development or birth (HP:0001197)
..Abnormality of the breast (HP:0000769)
..Abnormality of the cardiovascular system (HP:0001626)
..Abnormality of the digestive system (HP:0025031)
..Abnormality of the ear (HP:0000598)
..Abnormality of the endocrine system (HP:0000818)
..Abnormality of the eye (HP:0000478)
..Abnormality of the genitourinary system (HP:0000119)
..Abnormality of the immune system (HP:0002715)
..Abnormality of the integument (HP:0001574)
..Abnormality of the musculature (HP:0003011)
..Abnormality of the nervous system (HP:0000707)
..Abnormality of the respiratory system (HP:0002086)
..Abnormality of the skeletal system (HP:0000924)
..Abnormality of the thoracic cavity (HP:0045027)
..Abnormality of the voice (HP:0001608)
..Constitutional symptom (HP:0025142)
..Growth abnormality (HP:0001507)
..Neoplasm (HP:0002664)
..obsolete Abnormal test result (HP:0500014)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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