GWASdb SNP-Phenotype Associations Dataset

Name: GWASdb SNP-Phenotype Associations
Keywords: disease or phenotype associations

Description	SNP-phenotype association p-values curated from published GWAS
Measurement	genetic association by data aggregation from genome-wide association and other genetic association studies
Association	gene-phenotype associations by manual GWAS curation
Category	disease or phenotype associations
Resource	GWASdb
Citation(s)	Li, MJ et al. (2012) GWASdb: a database for human genetic variants identified by genome-wide association studies. Nucleic Acids Res. 40:D1047-54.
Last Updated	2015 Apr 06
Stats	12487 genes 822 phenotypes 274553 gene-phenotype associations

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Downloads	gene-attribute matrix gene-attribute edge list gene set library attribute set library gene similarity matrix attribute similarity matrix gene list attribute list processing scripts gene-attribute matrix cleaned gene-attribute matrix standardized

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Gene Similarity

phenotype Gene Sets

822 sets of genes associated with phenotypes in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Gene Set	Description
abdominal aortic aneurysm	An aortic aneurysm that is located_in the abdominal aorta.
abdominal symptom
abnormal aggressive, impulsive or violent behavior
abnormal appendicular skeleton morphology	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
abnormal atrioventricular conduction
abnormal autonomic nervous system physiology	A functional abnormality of the autonomic nervous system.
abnormal axial skeleton morphology	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
abnormal biliary tract morphology	A structural abnormality of the biliary tree.
abnormal bleeding
abnormal bone structure	Any anomaly in the composite material or the layered arrangement of the bony skeleton.
abnormal circulating creatinine level	An abnormal concentration of creatinine in the blood.
abnormal cortical bone morphology	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
abnormal diaphysis morphology	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
abnormal eating behavior	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
abnormal ekg
abnormal electrophysiology of sinoatrial node origin	An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.
abnormal emotion/affect behavior	An abnormality of emotional behaviour.
abnormal external genitalia
abnormal eye morphology	A structural anomaly of the eye.
abnormal eye physiology	A functional anomaly of the eye.
abnormal facial shape	An abnormal morphology (form) of the face or its components.
abnormal gallbladder morphology	A structural anomaly of the gallbladder.
abnormal gallbladder physiology	A functional anomaly of the gallbladder.
abnormal genital system morphology	A structural or developmental anomaly of any of the tissues involved in the genital system.
abnormal glomerular filtration rate	An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
abnormal glucose homeostasis	Abnormality of glucose homeostasis.
abnormal hair pattern	An abnormality of the distribution of hair growth.
abnormal hair quantity	An abnormal amount of hair.
abnormal hemoglobin	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
abnormal immunoglobulin level	An abnormal deviation from normal levels of immunoglobulins in blood.
abnormal internal genitalia	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
abnormal intraocular pressure	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
abnormal iris pigmentation	Abnormal pigmentation of the iris.
abnormal joint morphology	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
abnormal leukocyte count	Number of leukocytes per volume of blood beyond normal limits.
abnormal male reproductive system physiology	An abnormal functionality of the male genital system.
abnormal monocyte count	An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
abnormal motor neuron morphology	Any structural anomal that affects the motor neuron.
abnormal muscle tone
abnormal nervous system electrophysiology	An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
abnormal neuron morphology	A structural anomaly of a neuron.
abnormal neutrophil cell number	A deviation from the normal range of neutrophil cell counts in the circulation.
abnormal number of teeth	The presence of an altered number of of teeth.
abnormal peripheral nervous system morphology
abnormal platelet count	Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
abnormal platelet function	Any anomaly in the function of thrombocytes.
abnormal renal morphology	Any structural anomaly of the kidney.
abnormal renal physiology	An abnormal functionality of the kidney.
abnormal respiratory system morphology	A structural anomaly of the respiratoy system.
abnormal serum iron
abnormal spermatogenesis	Incomplete maturation or aberrant formation of the male gametes.
abnormal testosterone level	An anomalous concentration of testosterone in the blood.
abnormal thrombosis	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
abnormalities of placenta or umbilical cord	An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
abnormalities of the peripheral arteries
abnormality of acid-base homeostasis	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
abnormality of adipose tissue	An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes.
abnormality of amino acid metabolism	Abnormality of an amino acid metabolic process.
abnormality of aromatic amino acid family metabolism	An abnormality of a aromatic amino acid family metabolic process.
abnormality of b cell physiology	An abnormality of the physiological functioning of B cells.
abnormality of b cells	An abnormality of B cells.
abnormality of basophils	A basophils abnormality.
abnormality of blood and blood-forming tissues	An abnormality of the hematopoietic system.
abnormality of blood circulation	An abnormality of blood circulation.
abnormality of blood volume homeostasis	An abnormality in the amount of volume occupied by intravascular blood.
abnormality of body height	Deviation from the norm of height with respect to that which is expected according to age and gender norms.
abnormality of body weight	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
abnormality of bone marrow cell morphology	An anomaly of the form or number of cells in the bone marrow.
abnormality of bone mineral density	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
abnormality of brain morphology	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
abnormality of calcium homeostasis	An abnormality of calcium ion homeostasis.
abnormality of carbohydrate metabolism/homeostasis	An abnormality of the metabolism/homeostasis of a carbohydrate.
abnormality of carboxylic acid metabolism	An abnormality of the metabolism of a carboxylic acid.
abnormality of cardiac morphology	An abnormality of the heart.
abnormality of cardiac ventricle	An abnormality of a cardiac ventricle.
abnormality of cardiovascular system physiology	Abnormal functionality of the cardiovascular system.
abnormality of cation homeostasis	An abnormality of cation homeostasis.
abnormality of cell physiology	An abnormality in a cellular process.
abnormality of cells of the erythroid lineage	An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.
abnormality of cells of the monocyte/macrophage lineage
abnormality of cellular immune system	An abnormality of the morphology or counts of the cells that make up the immune system.
abnormality of central motor function	An anomaly of the control or production of movement in the central nervous system.
abnormality of central nervous system electrophysiology
abnormality of cerebral artery	An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.
abnormality of cholesterol metabolism
abnormality of circle of willis	An anomaly of the circle of Willis, also known as the cerebral arterial circle.
abnormality of circulating cortisol level	An abnormality of the concentration of cortisol in the blood.
abnormality of circulating fibrinogen	An abnormality of the level of activity of circulating fibrinogen.
abnormality of circulating glucocorticoid level	An abnormality of the concentration of a glucocorticoid in the blood.
abnormality of circulating hormone level	An abnormal concentration of a hormone in the blood.
abnormality of circulating leptin level	An abnormal concentration of leptin in the blood.
abnormality of circulating protein level
abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
abnormality of complement system	An abnormality of the complement system.
abnormality of connective tissue	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
abnormality of copper homeostasis	An abnormal concentration of copper.
abnormality of corneal endothelium	Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.
abnormality of corneal thickness	An abnormal anteroposterior thickness of the cornea.
abnormality of cytokine secretion	An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).
abnormality of dental eruption	An abnormality of tooth eruption.
abnormality of dental structure	An abnormality of the structure or composition of the teeth.
abnormality of digit	A morphological abnormality of a digit, i.e., of a finger or toe.
abnormality of divalent inorganic cation homeostasis	An abnormality of divalent inorganic cation homeostasis.
abnormality of dna repair	An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.
abnormality of eosinophils	An eosinophil abnormality.
abnormality of epidermal morphology	An abnormality of the morphology of the epidermis.
abnormality of erythrocytes	An abnormality of erythrocytes (red-blood cells).
abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.
abnormality of facial skeleton	An abnormality of one or more of the set of bones that make up the facial skeleton.
abnormality of fatty-acid metabolism	An abnormality of fatty acid metabolism.
abnormality of female internal genitalia	An abnormality of the female internal genitalia.
abnormality of finger	An anomaly of a finger.
abnormality of fluid regulation	An abnormality of the regulation of body fluids.
abnormality of forearm bone
abnormality of forebrain morphology	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
abnormality of glycolipid metabolism	An abnormality of glycolipid metabolism.
abnormality of glycoprotein metabolism	An abnormality of a glycoprotein metabolic process.
abnormality of granulocytes	An abnormality of granulocytes.
abnormality of hair pigmentation	An abnormality of hair pigmentation (color).
abnormality of head or neck	An abnormality of head and neck.
abnormality of higher mental function	Cognitive, psychiatric or memory anomaly.
abnormality of homocysteine metabolism	An abnormality of a homocysteine metabolic process.
abnormality of humoral immunity	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.
abnormality of immune serum protein physiology	An abnormality of the concentration or function of circulating immune proteins.
abnormality of immune system physiology	A functional abnormality of the immune system.
abnormality of interleukin secretion
abnormality of ion homeostasis	Abnormality of the homeostasis (concentration) of a monoatomic ion.
abnormality of iron homeostasis	An abnormality of the homeostasis (concentration) of iron cation.
abnormality of leukocytes	An abnormality of leukocytes.
abnormality of limb bone
abnormality of limb bone morphology	Any abnormality of bones of the arms or legs.
abnormality of limbs
abnormality of lipid metabolism
abnormality of liposaccharide metabolism	An abnormality of liposaccharide metabolism.
abnormality of long bone morphology	An abnormality of size or shape of the long bones.
abnormality of lower limb bone
abnormality of lower limb joint
abnormality of lymphocytes	An abnormality of lymphocytes.
abnormality of macrophages	An abnormality of macrophages.
abnormality of magnesium homeostasis	An abnormality of magnesium ion homeostasis.
abnormality of male external genitalia	An abnormality of male external genitalia.
abnormality of male internal genitalia	An abnormality of the male internal genitalia.
abnormality of metabolism/homeostasis
abnormality of monovalent inorganic cation homeostasis	An abnormality of monovalent inorganic cation homeostasis.
abnormality of movement	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
abnormality of muscle morphology	A structural abnormality of a skeletal muscle.
abnormality of muscle physiology	A functional abnormality of a skeletal muscle.
abnormality of myeloid leukocytes	An abnormality of myeloid leukocytes.
abnormality of nervous system morphology	A structural anomaly of the nervous system.
abnormality of nervous system physiology	A functional anomaly of the nervous system.
abnormality of neutrophils	A neutrophil abnormality.
abnormality of nitrogen compound homeostasis	The presence of an abnormal concentration of nitrogen compounds.
abnormality of nucleobase metabolism	An abnormality of a nucleobase metabolic process.
abnormality of oral mucosa	Abnormality of the oral mucosa.
abnormality of pancreas physiology	An anomaly of the function of the pancreas.
abnormality of pelvic girdle bone morphology	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
abnormality of phalanx of finger	Abnormalities affecting the phalanx of finger.
abnormality of polysaccharide metabolism	An abnormality of the metabolism of polysaccharide.
abnormality of potassium homeostasis	An abnormal concentration of potassium.
abnormality of prenatal development or birth	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
abnormality of primary teeth	Any abnormality of the primary tooth.
abnormality of proteoglycan metabolism	An abnormality of proteoglycan metabolism.
abnormality of prothrombin	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.
abnormality of purine metabolism
abnormality of radial diaphysis	An anomaly of the radial diaphysis.
abnormality of refraction	An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
abnormality of renin-angiotensin system	An abnormality of the renin-angiotensin system.
abnormality of reproductive system physiology	An abnormal functionality of the genital system.
abnormality of retinal arteries
abnormality of serum cytokine level	Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.
abnormality of skeletal morphology	An abnormality of the form, structure, or size of the skeletal system.
abnormality of skin adnexa	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
abnormality of skin morphology	Any morphological abnormality of the skin.
abnormality of skin physiology	Any abnormality of the physiological function of the skin.
abnormality of skin pigmentation	An abnormality of the pigmentation of the skin.
abnormality of sodium homeostasis	An abnormal concentration of sodium.
abnormality of sulfur amino acid metabolism	An abnormality of a sulfur amino acid metabolic process.
abnormality of taste sensation
abnormality of temperature regulation	An abnormality of temperature homeostasis.
abnormality of the abdomen	Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
abnormality of the abdominal organs	An abnormality of the viscera of the abdomen.
abnormality of the adrenal glands	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
abnormality of the ankles
abnormality of the anterior pituitary
abnormality of the anterior segment of the eye	An abnormality of the anterior segment of the eye.
abnormality of the aorta	An abnormality of the aorta.
abnormality of the aortic valve	Any abnormality of the aortic valve.
abnormality of the astrocytes	An abnormality of astrocytes.
abnormality of the autonomic nervous system	An abnormality of the autonomic nervous system.
abnormality of the biliary system	An abnormality of the biliary system.
abnormality of the breast	An abnormality of the breast.
abnormality of the calf	An abnormality of the calf, i.e. of the posterior part of the lower leg.
abnormality of the cardiovascular system	Any abnormality of the cardiovascular system.
abnormality of the carotid arteries
abnormality of the cell cycle	An abnormality of the cell cycle.
abnormality of the cerebral cortex	An abnormality of the cerebral cortex.
abnormality of the cerebral subcortex	An abnormality of the cerebral subcortex.
abnormality of the cerebral vasculature
abnormality of the cerebral white matter	An abnormality of the cerebral white matter.
abnormality of the cerebrospinal fluid	An abnormality of the cerebrospinal fluid (CSF).
abnormality of the cerebrum	An abnormality of the telencephalon, which is also known as the cerebrum.
abnormality of the cervical spine	Any abnormality of the cervical vertebral column.
abnormality of the choroid
abnormality of the clavicle	Any abnormality of the clavicles (collar bones).
abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
abnormality of the common coagulation pathway	An abnormality of blood coagulation, common pathway.
abnormality of the cornea	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
abnormality of the coronary arteries	An abnormality of the coronary arteries.
abnormality of the costochondral junction	Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
abnormality of the curvature of the cornea
abnormality of the curvature of the vertebral column	The presence of an abnormal curvature of the vertebral column.
abnormality of the duodenum	An abnormality of the duodenum, i.e., the first section of the small intestine.
abnormality of the ear	An abnormality of the ear.
abnormality of the endocrine system
abnormality of the endometrium	An anomaly of the inner mucous membrane of the uterus.
abnormality of the esophagus	An abnormality of the esophagus.
abnormality of the eye
abnormality of the face	An abnormality of the face.
abnormality of the female genitalia	Abnormality of the female genital system.
abnormality of the femoral head	An abnormality of the femoral head.
abnormality of the femoral neck	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
abnormality of the femoral neck or head region
abnormality of the femur	Abnormality of the femur.
abnormality of the forearm	An abnormality of the lower arm.
abnormality of the fundus
abnormality of the gallbladder	An abnormality of the gallbladder.
abnormality of the gastrointestinal tract
abnormality of the genital system	An abnormality of the genital system.
abnormality of the genitourinary system	The presence of any abnormality of the genitourinary system.
abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).
abnormality of the glial cells	An abnormality of the glia cell.
abnormality of the globe	An anomaly of the eyeball.
abnormality of the glomerulus	A structural anomaly of the glomerulus.
abnormality of the hair	An abnormality of the hair.
abnormality of the hand	An abnormality affecting one or both hands.
abnormality of the head	An abnormality of the head.
abnormality of the heart valves	An abnormality of a Cardiac valve.
abnormality of the hip bone	An abnormality of the hip bone.
abnormality of the humeral diaphysis	An anomaly of the humeral diaphysis.
abnormality of the humerus	An abnormality of the humerus (i.e., upper arm bone).
abnormality of the hypothalamus-pituitary axis	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
abnormality of the immune system	An abnormality of the immune system.
abnormality of the integument	An abnormality of the integument, which consists of the skin and the superficial fascia.
abnormality of the intervertebral disk	An abnormality of the intervertebral disk.
abnormality of the intestine	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
abnormality of the intrinsic pathway	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.
abnormality of the iris	An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
abnormality of the kidney	An abnormality of the kidney.
abnormality of the knees	An abnormality of the knee joint or surrounding structures.
abnormality of the large intestine	Any abnormality of the large intestine.
abnormality of the left ventricle	An abnormality of the left ventricle of the heart.
abnormality of the left ventricular outflow tract	An abnormality of the outflow tract of the left ventricle.
abnormality of the lens
abnormality of the level of lipoprotein cholesterol	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.
abnormality of the liver	An abnormality of the liver.
abnormality of the lower limb	An abnormality of the leg.
abnormality of the lower urinary tract	An abnormality of the lower urinary tract.
abnormality of the lung	An abnormality of the lung.
abnormality of the macula	An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
abnormality of the male genitalia	Abnormality of the male genital system.
abnormality of the mandible	Any abnormality of the mandible, the bone of the lower jaw.
abnormality of the menstrual cycle	An abnormality of the ovulation cycle.
abnormality of the metaphyses	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
abnormality of the middle ear	An abnormality of the middle ear.
abnormality of the middle ear ossicles	An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
abnormality of the mouth	An abnormality of the mouth.
abnormality of the musculature	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
abnormality of the myocardium
abnormality of the nasopharynx	The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
abnormality of the nephron	A structural anomaly of the nephron.
abnormality of the nervous system	An abnormality of the nervous system.
abnormality of the nose	An abnormality of the nose.
abnormality of the oral cavity	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
abnormality of the ovary	An abnormality of the ovary.
abnormality of the pancreas	An abnormality of the pancreas.
abnormality of the penis
abnormality of the pharynx	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
abnormality of the pituitary gland	An anomaly of the pituitary gland.
abnormality of the placenta	An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.
abnormality of the pleura	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
abnormality of the posterior segment of the eye	The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
abnormality of the prostate	An abnormality of the prostate.
abnormality of the pylorus	An abnormality of the pylorus.
abnormality of the radius	An abnormality of the radius.
abnormality of the respiratory system	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
abnormality of the retina	An abnormality of the retina.
abnormality of the retinal vasculature	An arterial or venous retinal vascular anomaly.
abnormality of the rib cage	A morphological anomaly of the rib cage.
abnormality of the ribs	An anomaly of the rib.
abnormality of the skeletal system	An abnormality of the skeletal system.
abnormality of the skin	An abnormality of the skin.
abnormality of the skull	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
abnormality of the skull base	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.
abnormality of the small intestine	An abnormality of the small intestine.
abnormality of the spinal cord
abnormality of the stapes	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.
abnormality of the stomach	An abnormality of the stomach.
abnormality of the systemic arterial tree	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.
abnormality of the teeth	Any abnormality of the teeth.
abnormality of the testis	An anomaly of the testicle (the male gonad).
abnormality of the thorax	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
abnormality of the thyroid gland	An abnormality of the thyroid gland.
abnormality of the tongue	Any abnormality of the tongue.
abnormality of the ulna	An abnormality of the ulna bone of the forearm.
abnormality of the upper arm
abnormality of the upper limb	An abnormality of the arm.
abnormality of the upper urinary tract	An abnormality of the upper urinary tract.
abnormality of the urethra	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
abnormality of the urinary system	An abnormality of the urinary system.
abnormality of the urinary system physiology
abnormality of the uterus	An abnormality of the uterus.
abnormality of the uvea	An abnormality of the uvea, the vascular layer of the eyeball.
abnormality of the vasculature	An abnormality of the vasculature.
abnormality of the vasculature of the eye
abnormality of the vertebrae	An abnormality of one or more of the vertebrae.
abnormality of the vertebral column	Any abnormality of the vertebral column.
abnormality of the vitamin b12 metabolism
abnormality of thrombocytes	An abnormality of platelets.
abnormality of thyroid morphology	A structural abnormality of the thyroid gland.
abnormality of thyroid physiology	An abnormal functionality of the thyroid gland.
abnormality of transition element cation homeostasis	An abnormality of the homeostasis (concentration) of transition element cation.
abnormality of tryptophan metabolism	An abnormality of tryptophan metabolic process.
abnormality of unsaturated fatty acid metabolism	An abnormality of unsaturated fatty acid metabolism.
abnormality of upper limb bone
abnormality of upper limb metaphysis	An anomaly of one or more metaphyses of the arms.
abnormality of urine homeostasis	An abnormality of the composition of urine or the levels of its components.
abnormality of vitamin a metabolism
abnormality of vitamin b metabolism
abnormality of vitamin d metabolism
abnormality of vitamin e metabolism
abnormality of vitamin metabolism	An anomaly in the metabolism of a vitamin.
abnormality of von willebrand factor	Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
abnormality of zinc homeostasis	An abnormality of zinc ion homeostasis.
acne	A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
acquired abnormal hair pattern	An abnormality of the distribution of hair growth that is acquired during the course of life.
acute leukemia	A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.
acute lymphatic leukemia
acute myeloid leukemia	A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
advanced eruption of teeth	Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
age-related macular degeneration	A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
all	Root of all terms in the Human Phenotype Ontology.
allergic rhinitis	A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
allergy	An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
alopecia	A hypotrichosis that is characterized by a loss of hair from the head or body.
alopecia areata	A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
alzheimer disease	A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
amenorrhea
amyloidosis	An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
amyotrophic lateral sclerosis	A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
anemia	A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
anemia due to reduced life span of red cells	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.
aneurysm	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
angioedema	A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
anomaly of the limb diaphyses	A structural abnormality of a diaphysis of the arm or leg.
anomaly of the upper limb diaphyses	A structural abnormality of a diaphysis of the arm.
anorexia	A lack or loss of appetite for food (as a medical condition).
aortic aneurysm	An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
aortic dilatation
aortic valve calcification	Deposition of calcium salts in the aortic valve.
aplasia/hypoplasia involving the central nervous system	Absence or underdevelopment of tissue in the central nervous system.
aplasia/hypoplasia of the cerebrum
arrhythmia	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
arterial calcification	Pathological deposition of calcium salts in one or more arteries.
arterial stenosis	Narrowing or constriction of the inner surface (lumen) of an artery.
arteriosclerosis	An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
arthralgia	Joint pain.
arthritis	A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
aspirin-induced asthma	A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.
asthma	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
astigmatism	A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
astrocytoma	A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
atherosclerosis
atopic dermatitis	A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
atrial fibrillation	A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
atrophy/degeneration affecting the central nervous system
attention deficit hyperactivity disorder	A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
atypical scarring of skin	Atypically scarred skin .
autism	An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
autistic behavior
autoimmunity
azoospermia	A male infertility disease characterized by the absence of any measurable level of sperm in semen.
azotemia	An increased concentration of nitrogen compounds in the blood.
b-cell lymphoma	A non-Hodgkin lymphoma that has_material_basis_in B cells.
barrett esophagus
basal cell carcinoma	A skin carcinoma affecting basal cells.
behavioral abnormality	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
benign neoplasm of the central nervous system
bicuspid aortic valve	The presence of an aortic valve with two instead of the normal three cusps (flaps).
biliary atresia	A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
biliary cirrhosis	liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts
biliary tract abnormality
biliary tract neoplasm	A hepatobiliary benign neoplasm located_in the biliary tract.
bipolar affective disorder
bladder carcinoma	A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bladder neoplasm	The presence of a neoplasm of the urinary bladder.
borderline personality disorder	A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
breast carcinoma	A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bronchopulmonary sequestration	The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.
bulimia	A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).
calvarial osteosclerosis	An increase in bone density affecting the calvaria (roof of the skull).
carcinoid	A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
cardiac arrest	A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
cardiac valve calcification	Abnormal calcification of a cardiac valve.
cardiomyopathy	A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
cardiovascular calcification	Abnormal calcification in the cardiovascular system.
carious teeth
cataplexy	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
cataract	A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
cerebral aneurysm
cerebral ischemia
cholelithiasis
cholestasis
chorioretinal abnormality	An abnormality of the choroid and retina.
choroidal sclerosis	OMIM mapping confirmed by DO. [SN].
chronic	Slow, creeping onset, slow progress and long continuance of disease manifestations.
chronic colitis	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).
chronic hepatitis
chronic kidney disease	Functional anomaly of the kidney persisting for at least three months.
chronic leukemia	A leukemia that develops slowly.
chronic lymphatic leukemia	A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
chronic obstructive pulmonary disease
clavicular sclerosis	An increase in bone density within the clavicle.
clinical modifier	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
cns infection
cognitive impairment	Abnormality in the process of thought including the ability to process information.
colitis	An inflammatory bowel disease that involves inflammation located_in colon.
coloboma	An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
colon cancer	A colorectal cancer that is located_in the colon.
congenital glaucoma
congestive heart failure	A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
conotruncal defect	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.
coronary artery calcification	Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries.
coronary artery disease	An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
coronary artery stenosis
cortical sclerosis	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
costochondral joint sclerosis	Abnormal increase in density of the tissue at the costochondral junctions.
craniofacial disproportion
craniofacial osteosclerosis	Abnormally increased density of craniofacial bone tissue.
crohn's disease	An intestinal disease that involves inflammation located_in intestine.
cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
cystic lung disease
decreased body weight
decreased corneal thickness	A decreased anteroposterior thickness of the cornea.
decreased fertility
decreased liver function	Reduced ability of the liver to perform its functions.
decreased pulmonary function
decreased serum ceruloplasmin	A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood.
decreased testosterone in males
deep venous thrombosis	Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
deficit in nonword repetition	Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.
delayed eruption of permanent teeth	Delayed tooth eruption affecting the secondary dentition.
delayed eruption of primary teeth	Delayed tooth eruption affecting the primary dentition.
delayed eruption of teeth	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
dementia	A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
depletion of mitochondrial dna in muscle tissue
depression	A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
dermatological manifestations of systemic disorders
diabetes mellitus
diaphyseal sclerosis	An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
diaphyseal sclerosis of the upper limbs	An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.
diarrhea	A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
diffuse cerebral sclerosis
diffuse mesangial sclerosis	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
dilatation of the abdominal aorta
dilated cardiomyopathy	An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.
displacement of the external urethral meatus	A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
duodenal ulcer	Adding UMLS CUI for Curling Ulcer C0013295.
dyskinesia	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
dyslexia	A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
ectopic calcification	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
eeg abnormality	Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
elevated follicle stimulating hormone	An elevated concentration of follicle-stimulating hormone in the blood.
elevated systolic blood pressure	Abnormal increase in systolic blood pressure.
embryonal neoplasm	A germ cell cancer that is associated with an embryo.
embryonal renal neoplasm	The presence of an embryonal neoplasm of the kidney that primarily affects children.
emphysema
endometrial carcinoma	A endometrial cancer that is located_in the tissue lining the uterus.
erectile abnormalities
esophageal carcinoma	A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
esophageal neoplasm	A tumor (abnormal growth of tissue) of the esophagus.
esophagitis
ewing's sarcoma	A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
fasting hyperinsulinemia	An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.
fasting hypoglycemia
fever	Elevated body temperature due to failed thermoregulation.
fibrocystic lung disease
focal motor seizures	Focal seizures involving musculature in any form.
focal seizures	Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
freckling	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
functional abnormality of male internal genitalia
functional abnormality of the gastrointestinal tract	Abnormal functionality of the gastrointestinal tract.
functional respiratory abnormality	This category describes not-primarily structural lesions.
gastrointestinal carcinoma	A gastrointestinal system cancer that has_material_basis_in epithelial cells.
gastrointestinal dysmotility	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.
gastrointestinal inflammation
gastrointestinal obstruction
generalized abnormality of skin	An abnormality of the skin that is not localized to any one particular region.
generalized amyloid deposition	A diffuse form of amyloidosis.
generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
generalized osteosclerosis	An abnormal increase of bone mineral density with generalized involvement of the skeleton.
genital neoplasm	A tumor (abnormal growth of tissue) of the genital system.
germ cell neoplasia
germinoma	A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
glaucoma
glioblastoma
glioblastoma multiforme	An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes.
glioma	A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
glomerulosclerosis	A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
gonadal neoplasm	A tumor (abnormal growth of tissue) of a gonad.
gonadotropin excess	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
gout	An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
granulomatosis	Formation of multiple granulomas, i.e., localized nodular foci inflammation.
graves disease	An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
growth abnormality
headache	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
hearing abnormality	An abnormality of the sensory perception of sound.
hearing impairment	A decreased magnitude of the sensory perception of sound.
heart block	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
helicobacter pylori infection
hematological neoplasm
hemoglobinuria
hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).
hepatic granulomatosis	The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.
hepatic steatosis	The presence of steatosis in the liver.
hepatitis
hepatocellular carcinoma	A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
heterochromia iridis	Heterochromia iridis is a difference in the color of the iris in the two eyes.
hip osteoarthritis
hodgkin lymphoma	A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
humeral sclerosis
hyperactivity
hyperbilirubinemia	An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
hyperinsulinemia
hyperkinetic seizures	Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements.
hyperlipidemia	An elevated lipid concentration in the blood.
hyperpituitarism
hypersomnia
hypertension
hyperthyroidism	A thyroid gland disease that involves an over production of thyroid hormone.
hypertriglyceridemia	An abnormal increase in the level of triglycerides in the blood.
hypertrophic cardiomyopathy	An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hyperuricemia	An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
hypogammaglobulinemia	A B cell deficiency that is caused by a reduction in all types of gamma globulins.
hypointensity of cerebral white matter on mri	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
hypolipidemia
hypospadias	A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
hypotension	Low Blood Pressure, vascular hypotension.
hypothyroidism	A thyroid gland disease which involves an underproduction of thyroid hormone.
hypovolemia	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
iga deficiency	A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
iga deposition in the glomerulus
ileus
immunodeficiency
immunologic hypersensitivity
impaired left ventricular function
impaired platelet aggregation	An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
impotence
increased blood urea nitrogen (bun)	An increased amount of nitrogen in the form of urea in the blood.
increased body weight
increased bone mineral density	increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size
increased corneal curvature	An increase in the degree of curvature of the cornea compared to normal.
increased density of long bones	An abnormal increase in the bone density of the long bones.
increased intraocular pressure
increased red cell sickling tendency
increased serum iron
increased serum zinc	An increased consentration of zinc in the blood.
infertility
inflammation of the large intestine
inflammatory abnormality of the skin
insomnia
insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
internal hemorrhage	The presence of hemorrhage within the body.
intervertebral disc degeneration	The presence of degenerative changes of intervertebral disk.
intestinal bleeding	Bleeding from the intestines.
intestinal carcinoid
intestinal obstruction
involuntary movements	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
ischemic stroke
jaundice	Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
juvenile rheumatoid arthritis	A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
keloids	Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair.
keratoconus	A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
knee osteoarthritis
language impairment
left ventricular hypertrophy
leukemia	A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
leukopenia	A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
lipid accumulation in hepatocytes
localized skin lesion	A lesion of the skin that is located in a specific region rather than being generalized.
lymphedema
lymphoma	A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
macular degeneration	A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
male infertility
malformation of the heart and great vessels
malignant gastrointestinal tract tumors
malignant mesothelioma	A cell type cancer that has_material_basis_in mesothelial tissue.
malignant neoplasm of the central nervous system
mania	A state of abnormally elevated or irritable mood, arousal, and or energy levels.
maternal diabetes
mechanical ileus
meconium ileus	Obstruction of the intestine due to abnormally thick meconium.
melanoma	A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
meningioma	A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
meningitis	Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
menstrual irregularities
mental deterioration	Loss of previously present mental abilities, generally in adults.
mesangial abnormality	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
metaphyseal sclerosis	Abnormally increased density of metaphyseal bone.
migraine	A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine with aura	A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
migraine without aura	A migraine that is characterized by migraine headaches that are not accompanied by an aura.
mode of inheritance	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
moderate generalized osteoporosis	Moderate osteoporosis.
morphological abnormality of the central nervous system	A structural abnormality of the central nervous system.
morphological abnormality of the gastrointestinal tract	Abnormal structure of the gastrointestinal tract.
morphological abnormality of the middle ear	An abnormality of the morphology or structure of the middle ear.
mortality/aging
motor neuron atrophy	Wasting involving the motor neuron.
mouth neoplasm	A tumor (abnormal growth of tissue) of the mouth.
moyamoya phenomenon	A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.
multiple mitochondrial dna deletions	The presence of multiple deletions of mitochondrial DNA (mtDNA).
multiple myeloma	A myeloma that is located_in the plasma cells in bone marrow.
muscle abnormality related to mitochondrial dysfunction
muscular hypotonia	Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
myeloproliferative disorder	A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
myocardial infarction	Xref MGI.
myoclonic spasms
myoclonus	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
myopia	A refractive error characterized by the inability to see farther objects clearly.
myositis	A myopathy characterized by muscle inflammation.
nausea	A sensation of unease in the stomach together with an urge to vomit.
nausea and vomiting
neoplasia of the nasopharynx
neoplasia of the pleura
neoplasm	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
neoplasm by anatomical site	Neoplasm categorized according to the anatomical site of origin of the neoplasm.
neoplasm by histology	Neoplasm categorized according to type of histological abnormality.
neoplasm of head and neck
neoplasm of the breast	A tumor (abnormal growth of tissue) of the breast.
neoplasm of the central nervous system	A neoplasm of the central nervous system.
neoplasm of the colon
neoplasm of the endocrine system	A tumor (abnormal growth of tissue) of the endocrine system.
neoplasm of the gallbladder	The presence of a neoplasm of the gallbladder.
neoplasm of the gastrointestinal tract	A tumor (abnormal growth of tissue) of the gastrointestinal tract.
neoplasm of the genitourinary tract	A tumor (abnormal growth of tissue) of the genitourinary system.
neoplasm of the large intestine	The presence of a neoplasm of the large intestine.
neoplasm of the liver
neoplasm of the lung	Tumor of the lung.
neoplasm of the nervous system
neoplasm of the pancreas
neoplasm of the respiratory system	A tumor (abnormal growth of tissue) of the respiratory system.
neoplasm of the skeletal system	A tumor (abnormal growth of tissue) of the skeleton.
neoplasm of the skin
neoplasm of the stomach	A tumor (abnormal growth of tissue) of the stomach.
neoplasm of the thyroid gland	A tumor (abnormal growth of tissue) of the thyroid gland.
nephroblastoma (wilms tumor)
nephrolithiasis	OMIM mapping confirmed by DO. [SN].
nephropathy	A urinary system disease that is located_in the kidney.
nephrosclerosis
nephrotic syndrome	Xref MGI.
nervous tissue neoplasm	A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system).
neuroblastic tumors	Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
neuroblastoma	An autonomic nervous system neoplasm that derives_from immature nerve cells.
neurodevelopmental abnormality	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
neuroectodermal neoplasm	A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
neuroepithelial neoplasm	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.
neurological speech impairment
neutropenia
nevus	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
non-caseating epithelioid cell granulomatosis	The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).
non-hodgkin lymphoma	A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
non-obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
obesity	OMIM mapping confirmed by DO. [SN].
obstructive lung disease
oral cleft	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
orthostatic hypotension	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
orthostatic tachycardia	An increase in heart rate with standing of 30 beats per minute or more.
osteoarthritis	An arthritis that has_material_basis_in worn out cartilage located_in joint.
osteoporosis	A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
osteosarcoma	A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin.
osteosclerosis of the ulna	Osteosclerosis (increased density related to increased bone mass) of the ulna.
otitis media	A otitis which involves inflammation of the middle ear.
otosclerosis	A labyrinthine disease characterized by an abnormal bone growth in the middle ear.
ovarian cyst
ovarian neoplasm	A female reproductive organ cancer that is located_in the ovary.
pancreatic adenocarcinoma	A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
pancreatitis
papillary thyroid carcinoma	A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer.
paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
parkinsonism	Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
patchy changes of bone mineral density	Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).
patchy osteosclerosis	Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
patchy sclerosis of radial diaphysis
periodontitis
peripheral arterial disease
peripheral neuropathy	A neuropathy that is located_in nerves of the peripheral nervous system.
peripheral primitive neuroectodermal neoplasm	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.
personality disorder	A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
phenotypic abnormality	A phenotypic abnormality.
phenotypic variability	A variability of phenotypic features.
pleural mesothelioma	A Malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.
polycystic ovaries	OMIM mapping confirmed by DO. [SN].
precocious menopause
predominantly lower limb lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
preeclampsia	A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
premature eruption of permanent teeth	Premature tooth eruption of the permanent dentition.
premature ovarian failure	An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
prenatal maternal abnormality
primary atrial arrhythmia	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
primary congenital glaucoma	Xref MGI.
primary open angle glaucoma	OMIM mapping confirmed by DO. [SN].
primitive neuroectodermal tumor	A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.
prolonged pr interval	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
prolonged qrs complex	Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
prolonged qt interval	increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave
prolonged qtc interval
prostate cancer	A male reproductive organ cancer that is located_in the prostate.
prostate neoplasm	A male reproductive organ cancer that is located_in the prostate.
psoriasis	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
psychosis	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
puberty and gonadal disorders
pulmonary embolism	An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
pulmonary fibrosis
pyloric stenosis
recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
recurrent infection of the gastrointestinal tract	Recurrent infection of the gastrointestinal tract.
recurrent infections	Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection.
recurrent mycobacterial infections	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
recurrent mycobacterium avium complex infections	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.
recurrent viral infections	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
red hair
reduced bone mineral density	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
reduced factor viii activity
reduced number of teeth	The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
renal cell carcinoma	A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
renal insufficiency
renal neoplasm	Tumors or cancers of the KIDNEY.
retinal coloboma	A notch or cleft of the retina.
retinal detachment	OMIM mapping confirmed by DO. [SN].
retinopathy	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
rhabdomyolysis	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
rhegmatogenous retinal detachment	A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
rheumatoid arthritis	An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
rhinitis	A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
sarcoma	A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
scarring
schizophrenia	A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
sclerosis of finger phalanx	An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
sclerosis of foot bone	An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.
sclerosis of hand bone	Osteosclerosis affecting one or more bones of the hand.
sclerosis of humeral diaphysis
sclerosis of metaphyses of the upper limbs
sclerosis of skull base	Increased bone density of the skull base without significant changes in bony contour.
sclerotic forearm bones
scoliosis	A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
secondary amenorrhea
seizures	Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
selective tooth agenesis	A tooth disease characterized by failure to develop on or more missing teeth.
sensory neuropathy	A peripheral neuropathy that involves damage to nerves of the peripheral nervous system.
sepsis	Systemic inflammatory response to infection.
short attention span	Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
shortened pr interval	Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.
shortened qt interval	Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
sick sinus syndrome	Xref MGI.
skin rash
sleep disturbance	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
sleep-wake cycle disturbance
specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
spinal rigidity	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
squamous cell carcinoma	A carcinoma that derives_from squamous epithelial cells.
stage 5 chronic kidney disease
stomach cancer	A gastrointestinal system cancer that is located_in the stomach.
stroke	An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
subaortic stenosis
sudden cardiac death	The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
sudden death	Rapid and unexpected death.
supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
supraventricular arrhythmia	A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.
supraventricular tachycardia	Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
syncope	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
systemic lupus erythematosus	A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
tachycardia	A rapid heartrate that exceeds the range of the normal resting heartrate for age.
termporal pattern	The speed at which disease manifestations appear and develop.
testicular dysgenesis
testicular neoplasm	The presence of a neoplasm of the testis.
testicular seminoma	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.
tetralogy of fallot	OMIM mapping confirmed by DO. [LS].
thyroid carcinoma	A thyroid cancer that has_material_basis_in epithelial cells.
thyrotoxicosis with diffuse goiter
time of death	The age group when the cessation of life happens.
torsade de pointes	A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
toxemia of pregnancy	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Ecplamsia.
tremor	An unintentional, oscillating to-and-fro muscle movement.
type i diabetes mellitus	A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas.
type ii diabetes mellitus	A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly.
ulcerative colitis	A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
urethral obstruction
urethral sphincter sclerosis
urethral stenosis	Abnormal narrowing of the urethra.
urinary tract neoplasm	An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
uterine leiomyoma	A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
uterine neoplasm	A tumor (abnormal growth of tissue) of the uterus.
varicose veins	A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
vascular calcification	Abnormal calcification of the vasculature.
vascular skin abnormality
vasculitis	A vascular disease that is characterized by inflammation of the blood vessels.
venous abnormality	An anomaly of vein.
venous insufficiency	A vein disease that is characterized by impaired flow of blood through the veins.
venous thrombosis	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
ventricular arrhythmia
ventricular fibrillation	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
ventricular hypertrophy	Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
vertebral body sclerosis	Increase in bone density of the vertebral body.
viral hepatitis	A hepatitis that involves viral infection causing inflammation of the liver.
vitamin e deficiency
vitiligo	A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
vomiting	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
weight loss	Reduction inexisting body weight.

Harmonizome 3.0

GWASdb SNP-Phenotype Associations Dataset

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phenotype Gene Sets

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