msigdb_hp/selections.json

{"all_annotations": ["11 pairs of ribs", "2 3 finger syndactyly", "2 3 toe cutaneous syndactyly", "2 3 toe syndactyly", "3 4 finger syndactyly", "3 methylglutaconic aciduria", "4 5 toe syndactyly", "Abdominal aortic aneurysm", "Abdominal distention", "Abdominal obesity", "Abdominal pain", "Abdominal wall muscle weakness", "Abducens palsy", "Abnormal 2nd finger morphology", "Abnormal 3rd finger morphology", "Abnormal 5th finger morphology", "Abnormal 5th finger phalanx morphology", "Abnormal abdomen morphology", "Abnormal acetabulum morphology", "Abnormal activity of mitochondrial respiratory chain", "Abnormal adipose tissue morphology", "Abnormal aggressive impulsive or violent behavior", "Abnormal aldolase level", "Abnormal anatomic location of the heart", "Abnormal anterior chamber morphology", "Abnormal anterior eye segment morphology", "Abnormal anterior horn cell morphology", "Abnormal aortic arch morphology", "Abnormal aortic morphology", "Abnormal aortic valve cusp morphology", "Abnormal aortic valve morphology", "Abnormal aortic valve physiology", "Abnormal arachnoid mater morphology", "Abnormal arm span", "Abnormal arterial physiology", "Abnormal astrocyte morphology", "Abnormal atrial arrangement", "Abnormal atrioventricular conduction", "Abnormal atrioventricular valve morphology", "Abnormal atrioventricular valve physiology", "Abnormal auditory evoked potentials", "Abnormal autonomic nervous system physiology", "Abnormal b cell morphology", "Abnormal b cell subset distribution", "Abnormal basal ganglia mri signal intensity", "Abnormal biliary tract morphology", "Abnormal bleeding", "Abnormal blistering of the skin", "Abnormal blood carbon dioxide level", "Abnormal blood chloride concentration", "Abnormal blood gas level", "Abnormal blood glucose concentration", "Abnormal blood inorganic cation concentration", "Abnormal blood ion concentration", "Abnormal blood monovalent inorganic cation concentration", "Abnormal blood phosphate concentration", "Abnormal blood potassium concentration", "Abnormal blood sodium concentration", "Abnormal blood transition element cation concentration", "Abnormal blood zinc concentration", "Abnormal bone structure", "Abnormal bowman capsule morphology", "Abnormal brain choline level by mrs", "Abnormal brain lactate level by mrs", "Abnormal brain n acetyl aspartate level by mrs", "Abnormal brain positron emission tomography", "Abnormal brainstem morphology", "Abnormal brainstem mri signal intensity", "Abnormal branching pattern of the aortic arch", "Abnormal breath sound", "Abnormal bronchoalveolar lavage fluid morphology", "Abnormal bronchus morphology", "Abnormal bronchus physiology", "Abnormal c peptide level", "Abnormal c reactive protein level", "Abnormal calcium phosphate regulating hormone level", "Abnormal cardiac atrium morphology", "Abnormal cardiac exercise stress test", "Abnormal cardiac septum morphology", "Abnormal cardiac test", "Abnormal cardiac ventricle morphology", "Abnormal cardiac ventricular function", "Abnormal cardiomyocyte morphology", "Abnormal carotid artery morphology", "Abnormal cartilage morphology", "Abnormal caudate nucleus morphology", "Abnormal cd4 cd8 ratio", "Abnormal cell morphology", "Abnormal cell proliferation", "Abnormal cellular composition of bronchoalveolar fluid", "Abnormal cellular phenotype", "Abnormal central sensory function", "Abnormal cerebellar vermis morphology", "Abnormal cerebral artery morphology", "Abnormal cerebral cortex morphology", "Abnormal cerebral vascular morphology", "Abnormal cerebral vein morphology", "Abnormal cerebral ventricle morphology", "Abnormal cerebrospinal fluid metabolite concentration", "Abnormal cervical curvature", "Abnormal cervical spine morphology", "Abnormal chorioretinal morphology", "Abnormal choroid morphology", "Abnormal choroid plexus morphology", "Abnormal chromosome morphology", "Abnormal ciliary body morphology", "Abnormal circulating acetylcarnitine concentration", "Abnormal circulating albumin concentration", "Abnormal circulating amino acid concentration", "Abnormal circulating amylase level", "Abnormal circulating androgen level", "Abnormal circulating apolipoprotein concentration", "Abnormal circulating arginine concentration", "Abnormal circulating aromatic amino acid concentration", "Abnormal circulating aspartate family amino acid concentration", "Abnormal circulating bilirubin concentration", "Abnormal circulating branched chain amino acid concentration", "Abnormal circulating carbohydrate concentration", "Abnormal circulating carboxylic acid concentration", "Abnormal circulating ceruloplasmin concentration", "Abnormal circulating cholesterol concentration", "Abnormal circulating citrulline concentration", "Abnormal circulating copper concentration", "Abnormal circulating creatinine concentration", "Abnormal circulating dehydroepiandrosterone concentration", "Abnormal circulating dicarboxylic acid concentration", "Abnormal circulating estrogen level", "Abnormal circulating fatty acid anion concentration", "Abnormal circulating fatty acid concentration", "Abnormal circulating ferritin concentration", "Abnormal circulating follicle stimulating hormone concentration", "Abnormal circulating free fatty acid concentration", "Abnormal circulating gaba concentration", "Abnormal circulating glutamine concentration", "Abnormal circulating glutamine family amino acid concentration", "Abnormal circulating glycine concentration", "Abnormal circulating gonadotropin concentration", "Abnormal circulating hormone concentration", "Abnormal circulating iga level", "Abnormal circulating ige level", "Abnormal circulating igg level", "Abnormal circulating igm level", "Abnormal circulating inhibin level", "Abnormal circulating lipid concentration", "Abnormal circulating long chain fatty acid concentration", "Abnormal circulating metabolite concentration", "Abnormal circulating methionine concentration", "Abnormal circulating monocarboxylic acid cocentration", "Abnormal circulating nitrogen compound concentration", "Abnormal circulating non proteinogenic amino acid concentration", "Abnormal circulating nucleobase concentration", "Abnormal circulating phenylalanine concentration", "Abnormal circulating porphyrin concentration", "Abnormal circulating progesterone level", "Abnormal circulating proline concentration", "Abnormal circulating protein concentration", "Abnormal circulating proteinogenic amino acid concentration", "Abnormal circulating proteinogenic amino acid derivative concentration", "Abnormal circulating pyruvate family amino acid concentration", "Abnormal circulating renin", "Abnormal circulating serine concentration", "Abnormal circulating serine family amino acid concentration", "Abnormal circulating sex hormone concentration", "Abnormal circulating sulfur amino acid concentration", "Abnormal circulating tyrosine concentration", "Abnormal clavicle morphology", "Abnormal cns myelination", "Abnormal coccyx morphology", "Abnormal cochlea morphology", "Abnormal conjugate eye movement", "Abnormal conjunctiva morphology", "Abnormal connection of the cardiac segments", "Abnormal consumption behavior", "Abnormal conus terminalis morphology", "Abnormal cornea morphology", "Abnormal corneal endothelium morphology", "Abnormal corneal epithelium morphology", "Abnormal coronary artery morphology", "Abnormal corpus callosum morphology", "Abnormal corpus striatum morphology", "Abnormal cortical bone morphology", "Abnormal cortical gyration", "Abnormal cranial nerve morphology", "Abnormal cranial nerve physiology", "Abnormal cry", "Abnormal csf carboxylic acid concentration", "Abnormal csf metabolite level", "Abnormal csf protein level", "Abnormal csf pyruvate family amino acid concentration", "Abnormal cutaneous elastic fiber morphology", "Abnormal delayed hypersensitivity skin test", "Abnormal delivery", "Abnormal dense granules", "Abnormal dental pulp morphology", "Abnormal dental root morphology", "Abnormal dentate nucleus morphology", "Abnormal dentin morphology", "Abnormal dermatoglyphics", "Abnormal dermoepidermal junction morphology", "Abnormal descemet membrane morphology", "Abnormal diaphysis morphology", "Abnormal distal phalanx morphology of finger", "Abnormal dlco", "Abnormal drinking behavior", "Abnormal duodenum morphology", "Abnormal dura mater morphology", "Abnormal eating behavior", "Abnormal echocardiogram", "Abnormal elasticity of skin", "Abnormal electrophysiology of sinoatrial node origin", "Abnormal electroretinogram", "Abnormal emotion affect behavior", "Abnormal enchondral ossification", "Abnormal endocardium morphology", "Abnormal endocrine physiology", "Abnormal enzyme coenzyme activity", "Abnormal eosinophil morphology", "Abnormal epidermal morphology", "Abnormal epiglottis morphology", "Abnormal epiphyseal ossification", "Abnormal epiphysis morphology of the phalanges of the hand", "Abnormal erythrocyte enzyme level", "Abnormal erythrocyte morphology", "Abnormal erythrocyte physiology", "Abnormal erythrocyte sedimentation rate", "Abnormal esophagus morphology", "Abnormal esophagus physiology", "Abnormal external genitalia", "Abnormal exteroceptive sensation", "Abnormal eyebrow morphology", "Abnormal eyelash morphology", "Abnormal eyelid morphology", "Abnormal eyelid physiology", "Abnormal facial expression", "Abnormal facial shape", "Abnormal factor ix activity", "Abnormal fallopian tube morphology", "Abnormal fear anxiety related behavior", "Abnormal female reproductive system physiology", "Abnormal femoral head morphology", "Abnormal femoral neck head morphology", "Abnormal femoral neck morphology", "Abnormal finger phalanx morphology", "Abnormal fingernail morphology", "Abnormal fingertip morphology", "Abnormal foot bone ossification", "Abnormal foramen magnum morphology", "Abnormal forearm bone morphology", "Abnormal form of the vertebral bodies", "Abnormal foveal morphology", "Abnormal full field electroretinogram", "Abnormal fundus autofluorescence imaging", "Abnormal gallbladder morphology", "Abnormal gastrointestinal motility", "Abnormal glial cell morphology", "Abnormal globus pallidus morphology", "Abnormal glomerular basement membrane morphology", "Abnormal glomerular filtration rate", "Abnormal glomerular mesangial cellularity", "Abnormal glomerular mesangium morphology", "Abnormal glucose homeostasis", "Abnormal glycosylation", "Abnormal granulocyte count", "Abnormal granulocytopoietic cell morphology", "Abnormal greater sciatic notch morphology", "Abnormal growth hormone level", "Abnormal hair laboratory examination", "Abnormal hair morphology", "Abnormal hair pattern", "Abnormal hair quantity", "Abnormal hair whorl", "Abnormal hand bone ossification", "Abnormal hand morphology", "Abnormal haptoglobin level", "Abnormal hdl cholesterol concentration", "Abnormal head movements", "Abnormal heart rate variability", "Abnormal heart sound", "Abnormal heart valve morphology", "Abnormal heart valve physiology", "Abnormal hemoglobin", "Abnormal hemoglobin concentration", "Abnormal hepatic iron concentration", "Abnormal humerus morphology", "Abnormal hypothalamus morphology", "Abnormal hypothalamus physiology", "Abnormal ileum morphology", "Abnormal iliac wing morphology", "Abnormal ilium morphology", "Abnormal immune system morphology", "Abnormal incisor morphology", "Abnormal inflammatory response", "Abnormal insulin level", "Abnormal internal carotid artery morphology", "Abnormal internal genitalia", "Abnormal intestine morphology", "Abnormal intraocular pressure", "Abnormal involuntary eye movements", "Abnormal iris pigmentation", "Abnormal jaw morphology", "Abnormal jejunum morphology", "Abnormal joint morphology", "Abnormal labia majora morphology", "Abnormal labia minora morphology", "Abnormal labia morphology", "Abnormal lacrimal duct morphology", "Abnormal lacrimal gland morphology", "Abnormal lactate dehydrogenase level", "Abnormal large intestine morphology", "Abnormal large intestine physiology", "Abnormal larynx morphology", "Abnormal larynx physiology", "Abnormal lateral ventricle morphology", "Abnormal ldl cholesterol concentration", "Abnormal left atrium morphology", "Abnormal left ventricle morphology", "Abnormal left ventricular outflow tract morphology", "Abnormal length of corpus callosum", "Abnormal leukocyte count", "Abnormal leukocyte physiology", "Abnormal levels of alpha fetoprotein", "Abnormal libido", "Abnormal light and dark adapted electroretinogram", "Abnormal lip morphology", "Abnormal liver morphology", "Abnormal liver parenchyma morphology", "Abnormal liver physiology", "Abnormal localization of kidney", "Abnormal location of ears", "Abnormal lower limb bone morphology", "Abnormal lower motor neuron morphology", "Abnormal lumbar spine morphology", "Abnormal lung development", "Abnormal lung lobation", "Abnormal lymphatic vessel morphology", "Abnormal lymphocyte morphology", "Abnormal macrophage morphology", "Abnormal macroscopic urine appearance", "Abnormal macular morphology", "Abnormal magnesium concentration", "Abnormal male reproductive system physiology", "Abnormal mandibular ramus morphology", "Abnormal mast cell morphology", "Abnormal mean corpuscular hemoglobin concentration", "Abnormal mean corpuscular volume", "Abnormal megakaryocyte morphology", "Abnormal meningeal morphology", "Abnormal metabolic brain imaging by mrs", "Abnormal metabolism", "Abnormal metacarpal morphology", "Abnormal metaphyseal trabeculation", "Abnormal metatarsal morphology", "Abnormal midbrain morphology", "Abnormal middle phalanx morphology of the hand", "Abnormal mitochondria in muscle tissue", "Abnormal mitochondrial morphology", "Abnormal mitochondrial number", "Abnormal mitochondrial shape", "Abnormal mitral valve physiology", "Abnormal monocyte morphology", "Abnormal morphology of myocardial trabeculae", "Abnormal morphology of the abdominal musculature", "Abnormal morphology of the choroidal vasculature", "Abnormal morphology of the conjunctival vasculature", "Abnormal morphology of the great vessels", "Abnormal morphology of the limbic system", "Abnormal morphology of the musculature of the neck", "Abnormal morphology of the olfactory bulb", "Abnormal morphology of the radius", "Abnormal motor evoked potentials", "Abnormal motor nerve conduction velocity", "Abnormal muscle fiber alpha dystroglycan", "Abnormal muscle fiber morphology", "Abnormal muscle fiber protein expression", "Abnormal muscle fiber type distribution", "Abnormal muscle glycogen content", "Abnormal myelination", "Abnormal myeloid cell morphology", "Abnormal myeloid leukocyte morphology", "Abnormal myocardium morphology", "Abnormal nasal base", "Abnormal nasal bridge morphology", "Abnormal nasal mucosa morphology", "Abnormal nasolacrimal system morphology", "Abnormal natural killer cell morphology", "Abnormal natural killer cell physiology", "Abnormal nephron morphology", "Abnormal nerve conduction velocity", "Abnormal nervous system electrophysiology", "Abnormal neural tube morphology", "Abnormal neuron morphology", "Abnormal neutrophil count", "Abnormal nipple morphology", "Abnormal number of erythroid precursors", "Abnormal number of granulocyte precursors", "Abnormal number of incisors", "Abnormal number of permanent teeth", "Abnormal number of teeth", "Abnormal odontoid tissue morphology", "Abnormal optical coherence tomography", "Abnormal oral frenulum morphology", "Abnormal oral mucosa morphology", "Abnormal oral physiology", "Abnormal ossification involving the femoral head and neck", "Abnormal ovarian morphology", "Abnormal ovarian physiology", "Abnormal palate morphology", "Abnormal palmar dermatoglyphics", "Abnormal pancreas morphology", "Abnormal pancreas size", "Abnormal paranasal sinus morphology", "Abnormal parietal bone morphology", "Abnormal parotid gland morphology", "Abnormal patella morphology", "Abnormal pattern of respiration", "Abnormal pelvis bone morphology", "Abnormal pelvis bone ossification", "Abnormal penis morphology", "Abnormal pericardium morphology", "Abnormal perifollicular morphology", "Abnormal peripheral action potential amplitude", "Abnormal peripheral myelination", "Abnormal peripheral nervous system morphology", "Abnormal peripheral nervous system physiology", "Abnormal peristalsis", "Abnormal periventricular white matter morphology", "Abnormal phalangeal joint morphology of the hand", "Abnormal pharynx morphology", "Abnormal pigmentation of the oral mucosa", "Abnormal pineal morphology", "Abnormal placenta morphology", "Abnormal placental membrane morphology", "Abnormal placental size", "Abnormal platelet aggregation", "Abnormal platelet function", "Abnormal platelet granules", "Abnormal platelet morphology", "Abnormal platelet volume", "Abnormal pleura morphology", "Abnormal pons morphology", "Abnormal posterior segment imaging", "Abnormal posturing", "Abnormal pr interval", "Abnormal preputium morphology", "Abnormal prolactin level", "Abnormal proportion of cd4 positive t cells", "Abnormal proportion of cd8 positive t cells", "Abnormal proportion of class switched memory b cells", "Abnormal proportion of double negative alpha beta regulatory t cell", "Abnormal prostate morphology", "Abnormal protein glycosylation", "Abnormal protein o linked glycosylation", "Abnormal proximal phalanx morphology of the hand", "Abnormal pulmonary interstitial morphology", "Abnormal pulmonary thoracic imaging finding", "Abnormal pulmonary valve morphology", "Abnormal pulmonary valve physiology", "Abnormal pupil morphology", "Abnormal pupillary function", "Abnormal pupillary light reflex", "Abnormal pyramidal sign", "Abnormal qrs complex", "Abnormal qt interval", "Abnormal rectum morphology", "Abnormal reflex", "Abnormal renal collecting system morphology", "Abnormal renal cortex morphology", "Abnormal renal corticomedullary differentiation", "Abnormal renal echogenicity", "Abnormal renal insterstitial morphology", "Abnormal renal medulla morphology", "Abnormal renal morphology", "Abnormal renal pelvis morphology", "Abnormal renal physiology", "Abnormal renal resorption", "Abnormal renal tubule morphology", "Abnormal renal vascular morphology", "Abnormal respiratory motile cilium morphology", "Abnormal respiratory motile cilium physiology", "Abnormal respiratory system morphology", "Abnormal response to acth stimulation test", "Abnormal response to endocrine stimulation test", "Abnormal response to insulin tolerance test", "Abnormal reticulocyte morphology", "Abnormal retinal artery morphology", "Abnormal retinal morphology", "Abnormal retinal vascular morphology", "Abnormal rib cage morphology", "Abnormal rib ossification", "Abnormal right atrium morphology", "Abnormal right ventricle morphology", "Abnormal saccadic eye movements", "Abnormal sacroiliac joint morphology", "Abnormal sacrum morphology", "Abnormal salivary gland morphology", "Abnormal sarcomere morphology", "Abnormal scalp morphology", "Abnormal scapula morphology", "Abnormal sclera morphology", "Abnormal scrotal rugation", "Abnormal sella turcica morphology", "Abnormal sensory nerve conduction velocity", "Abnormal serum insulin like growth factor 1 level", "Abnormal serum interferon level", "Abnormal serum interleukin level", "Abnormal serum iron concentration", "Abnormal sex determination", "Abnormal shape of the frontal region", "Abnormal shape of the occiput", "Abnormal shape of the palpebral fissure", "Abnormal sharpey fiber morphology", "Abnormal shoulder morphology", "Abnormal shoulder physiology", "Abnormal size of pituitary gland", "Abnormal size of the clitoris", "Abnormal size of the dental root", "Abnormal size of the palpebral fissures", "Abnormal skin morphology of the palm", "Abnormal social behavior", "Abnormal soft palate morphology", "Abnormal speech prosody", "Abnormal sperm motility", "Abnormal spermatogenesis", "Abnormal spinal meningeal morphology", "Abnormal sputum", "Abnormal st segment", "Abnormal sternal ossification", "Abnormal sternum morphology", "Abnormal stomach morphology", "Abnormal stool composition", "Abnormal subarachnoid space morphology", "Abnormal subclavian artery morphology", "Abnormal subcutaneous fat tissue distribution", "Abnormal substantia nigra morphology", "Abnormal superior cerebellar peduncle morphology", "Abnormal sweat gland morphology", "Abnormal sweat homeostasis", "Abnormal synaptic transmission at the neuromuscular junction", "Abnormal systemic arterial morphology", "Abnormal systemic blood pressure", "Abnormal t cell activation", "Abnormal t cell morphology", "Abnormal t cell proliferation", "Abnormal t cell subset distribution", "Abnormal t wave", "Abnormal talus morphology", "Abnormal tarsal ossification", "Abnormal temper tantrums", "Abnormal temporal bone morphology", "Abnormal tendon morphology", "Abnormal testis morphology", "Abnormal thalamic mri signal intensity", "Abnormal thalamic size", "Abnormal thoracic spine morphology", "Abnormal thorax morphology", "Abnormal thrombocyte morphology", "Abnormal thrombosis", "Abnormal thumb morphology", "Abnormal thyroid hormone level", "Abnormal thyroid morphology", "Abnormal thyroid stimulating hormone level", "Abnormal tissue metabolite concentration", "Abnormal toenail morphology", "Abnormal tongue morphology", "Abnormal tongue physiology", "Abnormal trabecular bone morphology", "Abnormal tracheal morphology", "Abnormal tracheobronchial morphology", "Abnormal transferrin saturation", "Abnormal tricuspid valve morphology", "Abnormal tricuspid valve physiology", "Abnormal umbilicus morphology", "Abnormal upper limb bone morphology", "Abnormal upper motor neuron morphology", "Abnormal ureter morphology", "Abnormal ureter physiology", "Abnormal urinary color", "Abnormal urinary electrolyte concentration", "Abnormal urine alpha ketoglutarate concentration", "Abnormal urine carbohydrate level", "Abnormal urine carboxylic acid level", "Abnormal urine cytology", "Abnormal urine hormone level", "Abnormal urine magnesium concentration", "Abnormal urine metabolite level", "Abnormal urine ph", "Abnormal urine phosphate concentration", "Abnormal urine potassium concentration", "Abnormal urine protein level", "Abnormal urine sodium concentration", "Abnormal uterus morphology", "Abnormal uvea morphology", "Abnormal uvula morphology", "Abnormal vagina morphology", "Abnormal vascular morphology", "Abnormal vascular physiology", "Abnormal vena cava morphology", "Abnormal venous morphology", "Abnormal ventricular septum morphology", "Abnormal vertebral morphology", "Abnormal vertebral segmentation and fusion", "Abnormal vestibulo ocular reflex", "Abnormal visual electrophysiology", "Abnormal visual field test", "Abnormal visual fixation", "Abnormal vitamin b12 level", "Abnormal vitreous humor morphology", "Abnormal waist to hip ratio", "Abnormal z disc morphology", "Abnormalities of placenta or umbilical cord", "Abnormality iris morphology", "Abnormality of abdominal situs", "Abnormality of acid base homeostasis", "Abnormality of adrenal morphology", "Abnormality of adrenal physiology", "Abnormality of alkaline phosphatase level", "Abnormality of amino acid metabolism", "Abnormality of bladder morphology", "Abnormality of blood circulation", "Abnormality of blood volume homeostasis", "Abnormality of body mass index", "Abnormality of bone marrow cell morphology", "Abnormality of bone mineral density", "Abnormality of canine", "Abnormality of cardiovascular system electrophysiology", "Abnormality of carpal bone ossification", "Abnormality of cartilage of external ear", "Abnormality of central nervous system electrophysiology", "Abnormality of chorioretinal pigmentation", "Abnormality of chromosome segregation", "Abnormality of chromosome stability", "Abnormality of circulating adrenocorticotropin level", "Abnormality of circulating enzyme level", "Abnormality of circulating fibrinogen", "Abnormality of circulating glucocorticoid level", "Abnormality of circulating leptin level", "Abnormality of coagulation", "Abnormality of complement system", "Abnormality of coordination", "Abnormality of corneal size", "Abnormality of corneal stroma", "Abnormality of corneal thickness", "Abnormality of cranial sutures", "Abnormality of dental color", "Abnormality of dental eruption", "Abnormality of dental morphology", "Abnormality of dental structure", "Abnormality of dermal melanosomes", "Abnormality of digestive system morphology", "Abnormality of dna repair", "Abnormality of earlobe", "Abnormality of endocrine pancreas physiology", "Abnormality of epiphysis morphology", "Abnormality of exocrine pancreas physiology", "Abnormality of extrapyramidal motor function", "Abnormality of facial adipose tissue", "Abnormality of facial musculature", "Abnormality of facial skeleton", "Abnormality of facial soft tissue", "Abnormality of female external genitalia", "Abnormality of femur morphology", "Abnormality of fibula morphology", "Abnormality of finger", "Abnormality of fluid regulation", "Abnormality of folate metabolism", "Abnormality of fontanelles", "Abnormality of foveal pigmentation", "Abnormality of frontal sinus", "Abnormality of frontalis muscle belly", "Abnormality of fundus pigmentation", "Abnormality of globe location", "Abnormality of globe size", "Abnormality of glycolipid metabolism", "Abnormality of hair growth", "Abnormality of hair pigmentation", "Abnormality of hair texture", "Abnormality of hand joint mobility", "Abnormality of head blood vessel", "Abnormality of hepatobiliary system physiology", "Abnormality of hindbrain morphology", "Abnormality of humoral immunity", "Abnormality of immune serum protein physiology", "Abnormality of iron homeostasis", "Abnormality of krebs cycle metabolism", "Abnormality of lens shape", "Abnormality of limb epiphysis morphology", "Abnormality of lipoprotein cholesterol concentration", "Abnormality of long bone morphology", "Abnormality of lower limb epiphysis morphology", "Abnormality of lower limb joint", "Abnormality of lower limb metaphyses", "Abnormality of lower lip", "Abnormality of lysosomal metabolism", "Abnormality of macular pigmentation", "Abnormality of malar bones", "Abnormality of male internal genitalia", "Abnormality of metacarpal epiphyses", "Abnormality of metacarpophalangeal joint", "Abnormality of mouth shape", "Abnormality of mouth size", "Abnormality of muscle size", "Abnormality of nail color", "Abnormality of neuronal migration", "Abnormality of neutrophil morphology", "Abnormality of neutrophil physiology", "Abnormality of neutrophils", "Abnormality of ocular smooth pursuit", "Abnormality of olfactory lobe morphology", "Abnormality of pain sensation", "Abnormality of pancreas physiology", "Abnormality of pelvic girdle bone morphology", "Abnormality of periauricular region", "Abnormality of peripheral nerves", "Abnormality of prenatal development or birth", "Abnormality of primary teeth", "Abnormality of prothrombin", "Abnormality of pulmonary circulation", "Abnormality of refraction", "Abnormality of renal excretion", "Abnormality of renin angiotensin system", "Abnormality of reproductive system physiology", "Abnormality of retinal pigmentation", "Abnormality of salivation", "Abnormality of secondary sexual hair", "Abnormality of skeletal maturation", "Abnormality of skeletal muscle fiber size", "Abnormality of skin adnexa physiology", "Abnormality of skin physiology", "Abnormality of skin pigmentation", "Abnormality of skull ossification", "Abnormality of small intestinal villus morphology", "Abnormality of somatosensory evoked potentials", "Abnormality of subcutaneous fat tissue", "Abnormality of t cell physiology", "Abnormality of taste sensation", "Abnormality of temperature regulation", "Abnormality of thalamus morphology", "Abnormality of the 1st metacarpal", "Abnormality of the 2nd toe", "Abnormality of the 3rd toe", "Abnormality of the 4th metacarpal", "Abnormality of the 5th metacarpal", "Abnormality of the 5th toe", "Abnormality of the abdominal organs", "Abnormality of the abdominal wall", "Abnormality of the achilles tendon", "Abnormality of the adrenal glands", "Abnormality of the alveolar ridges", "Abnormality of the amniotic fluid", "Abnormality of the ankles", "Abnormality of the anterior fontanelle", "Abnormality of the antihelix", "Abnormality of the antitragus", "Abnormality of the anus", "Abnormality of the auditory canal", "Abnormality of the autonomic nervous system", "Abnormality of the axillary hair", "Abnormality of the basal ganglia", "Abnormality of the biliary system", "Abnormality of the bladder", "Abnormality of the brainstem white matter", "Abnormality of the breast", "Abnormality of the calcaneus", "Abnormality of the calf", "Abnormality of the calf musculature", "Abnormality of the calvaria", "Abnormality of the carpal bones", "Abnormality of the cerebral subcortex", "Abnormality of the cerebrospinal fluid", "Abnormality of the cervical spine", "Abnormality of the cheek", "Abnormality of the chin", "Abnormality of the choanae", "Abnormality of the clitoris", "Abnormality of the coagulation cascade", "Abnormality of the columella", "Abnormality of the common coagulation pathway", "Abnormality of the costochondral junction", "Abnormality of the crus of the helix", "Abnormality of the curvature of the cornea", "Abnormality of the curvature of the vertebral column", "Abnormality of the dentition", "Abnormality of the diaphragm", "Abnormality of the diencephalon", "Abnormality of the distal phalanges of the toes", "Abnormality of the distal phalanx of the hallux", "Abnormality of the distal phalanx of the thumb", "Abnormality of the dorsal column of the spinal cord", "Abnormality of the elbow", "Abnormality of the endometrium", "Abnormality of the epididymis", "Abnormality of the epiphyses of the distal phalanx of finger", "Abnormality of the external nose", "Abnormality of the extraocular muscles", "Abnormality of the extrinsic pathway", "Abnormality of the female genitalia", "Abnormality of the fetal cardiovascular system", "Abnormality of the fifth metatarsal bone", "Abnormality of the first metatarsal bone", "Abnormality of the fontanelles or cranial sutures", "Abnormality of the foot musculature", "Abnormality of the forearm", "Abnormality of the forehead", "Abnormality of the frontal hairline", "Abnormality of the gallbladder", "Abnormality of the gastric mucosa", "Abnormality of the gingiva", "Abnormality of the glabella", "Abnormality of the glenoid fossa", "Abnormality of the hairline", "Abnormality of the hallux", "Abnormality of the helix", "Abnormality of the hepatic vasculature", "Abnormality of the humeroradial joint", "Abnormality of the humerus", "Abnormality of the hypothalamus pituitary axis", "Abnormality of the hypothenar eminence", "Abnormality of the incisor", "Abnormality of the inner ear", "Abnormality of the internal auditory canal", "Abnormality of the intervertebral disk", "Abnormality of the intrahepatic bile duct", "Abnormality of the intrinsic pathway", "Abnormality of the ischium", "Abnormality of the kidney", "Abnormality of the knee", "Abnormality of the larynx", "Abnormality of the lens", "Abnormality of the leydig cells", "Abnormality of the liver", "Abnormality of the lower urinary tract", "Abnormality of the lymph nodes", "Abnormality of the lymphatic system", "Abnormality of the mastoid", "Abnormality of the maxilla", "Abnormality of the menstrual cycle", "Abnormality of the metacarpal bones", "Abnormality of the metaphysis", "Abnormality of the metopic suture", "Abnormality of the middle ear", "Abnormality of the middle ear ossicles", "Abnormality of the middle phalanges of the toes", "Abnormality of the middle phalanx of the 5th finger", "Abnormality of the midface", "Abnormality of the mitochondrion", "Abnormality of the musculature of the hand", "Abnormality of the musculature of the limbs", "Abnormality of the musculature of the lower limbs", "Abnormality of the musculature of the thigh", "Abnormality of the musculature of the upper arm", "Abnormality of the musculature of the upper limbs", "Abnormality of the nail", "Abnormality of the nasal alae", "Abnormality of the nasal bone", "Abnormality of the nasal cavity", "Abnormality of the nasal dorsum", "Abnormality of the nasal septum", "Abnormality of the nasal skeleton", "Abnormality of the nasal tip", "Abnormality of the nasolabial region", "Abnormality of the neck", "Abnormality of the odontoid process", "Abnormality of the optic nerve", "Abnormality of the outer ear", "Abnormality of the ovary", "Abnormality of the palm", "Abnormality of the palpebral fissures", "Abnormality of the pancreas", "Abnormality of the parathyroid gland", "Abnormality of the parathyroid morphology", "Abnormality of the periorbital region", "Abnormality of the peripheral nervous system", "Abnormality of the peritoneum", "Abnormality of the periungual region", "Abnormality of the phalanges of the hallux", "Abnormality of the phalanges of the toes", "Abnormality of the pharynx", "Abnormality of the philtrum", "Abnormality of the pineal gland", "Abnormality of the pinna", "Abnormality of the pituitary gland", "Abnormality of the plantar skin of foot", "Abnormality of the posterior pituitary", "Abnormality of the protein c anticoagulant pathway", "Abnormality of the proximal phalanx of the thumb", "Abnormality of the pubic bone", "Abnormality of the pubic hair", "Abnormality of the pulmonary artery", "Abnormality of the pulmonary vasculature", "Abnormality of the pulmonary veins", "Abnormality of the pylorus", "Abnormality of the radial head", "Abnormality of the radioulnar joints", "Abnormality of the ribs", "Abnormality of the scrotum", "Abnormality of the sense of smell", "Abnormality of the septum pellucidum", "Abnormality of the shoulder girdle musculature", "Abnormality of the skull base", "Abnormality of the small intestine", "Abnormality of the spinal cord", "Abnormality of the spinocerebellar tracts", "Abnormality of the spleen", "Abnormality of the stapes", "Abnormality of the subungual region", "Abnormality of the supraorbital ridges", "Abnormality of the synovia", "Abnormality of the tarsal bones", "Abnormality of the temporomandibular joint", "Abnormality of the testis size", "Abnormality of the thenar eminence", "Abnormality of the thoracic cavity", "Abnormality of the thymus", "Abnormality of the thyroid gland", "Abnormality of the tongue", "Abnormality of the tongue muscle", "Abnormality of the tonsils", "Abnormality of the tragus", "Abnormality of the ulna", "Abnormality of the umbilical cord", "Abnormality of the upper arm", "Abnormality of the upper respiratory tract", "Abnormality of the ureter", "Abnormality of the urethra", "Abnormality of the urinary system physiology", "Abnormality of the uterus", "Abnormality of the vasculature of the eye", "Abnormality of the vertebral endplates", "Abnormality of the vestibulocochlear nerve", "Abnormality of the voice", "Abnormality of the wrist", "Abnormality of the zygomatic bone", "Abnormality of thyroid physiology", "Abnormality of tibia morphology", "Abnormality of toe", "Abnormality of ulnar metaphysis", "Abnormality of upper limb epiphysis morphology", "Abnormality of upper limb joint", "Abnormality of upper limb metaphysis", "Abnormality of upper lip", "Abnormality of upper lip vermillion", "Abnormality of urinary uric acid concentration", "Abnormality of urine calcium concentration", "Abnormality of urine catecholamine concentration", "Abnormality of urine homeostasis", "Abnormality of venous physiology", "Abnormality of visual evoked potentials", "Abnormality of vitamin a metabolism", "Abnormality of vitamin b metabolism", "Abnormality of vitamin b12 metabolism", "Abnormality of vitamin d metabolism", "Abnormality of vitamin e metabolism", "Abnormality of vitamin k metabolism", "Abnormality of vitamin metabolism", "Abnormality on pulmonary function testing", "Abnormally folded helix", "Abnormally large globe", "Abnormally lax or hyperextensible skin", "Abnormally low pitched voice", "Abnormally ossified vertebrae", "Abnormally shaped carpal bones", "Abscess", "Absence of pubertal development", "Absence of secondary sex characteristics", "Absence of subcutaneous fat", "Absence of the sacrum", "Absent axillary hair", "Absent brainstem auditory responses", "Absent distal phalanges", "Absent earlobe", "Absent epiphyses", "Absent eyebrow", "Absent facial hair", "Absent fingernail", "Absent forearm bone", "Absent foveal reflex", "Absent frontal sinuses", "Absent hair", "Absent hypoplastic paranasal sinuses", "Absent nares", "Absent nipple", "Absent or minimally ossified vertebral bodies", "Absent outer dynein arms", "Absent palmar crease", "Absent septum pellucidum", "Absent shortened dynein arms", "Absent speech", "Absent sternal ossification", "Absent testis", "Absent thumb", "Absent thumbnail", "Absent tibia", "Absent toe", "Absent toenail", "Acanthocytosis", "Acantholysis", "Acanthosis nigricans", "Accelerated atherosclerosis", "Accelerated skeletal maturation", "Accessory oral frenulum", "Accessory spleen", "Acetabular dysplasia", "Achilles tendon contracture", "Acidemia", "Acne", "Acne inversa", "Acquired abnormal hair pattern", "Acral blistering", "Acral ulceration", "Acromesomelia", "Acromicria", "Action tremor", "Acute coronary syndrome", "Acute encephalopathy", "Acute hepatic failure", "Acute kidney injury", "Acute leukemia", "Acute lymphoblastic leukemia", "Acute myeloid leukemia", "Acute pancreatitis", "Acute phase response", "Addictive behavior", "Adducted thumb", "Adenocarcinoma of the colon", "Adenocarcinoma of the intestines", "Adenocarcinoma of the small intestine", "Adenoma sebaceum", "Adenomatous colonic polyposis", "Adipose tissue loss", "Adrenal hyperplasia", "Adrenal hypoplasia", "Adrenal insufficiency", "Adrenal overactivity", "Adrenocortical abnormality", "Adrenocortical adenoma", "Adrenocortical carcinoma", "Adrenocorticotropic hormone deficiency", "Adrenocorticotropic hormone excess", "Adrenocorticotropin deficient adrenal insufficiency", "Adult onset", "Advanced eruption of teeth", "Advanced ossification of carpal bones", "Agammaglobulinemia", "Aganglionic megacolon", "Agenesis of central incisor", "Agenesis of cerebellar vermis", "Agenesis of corpus callosum", "Agenesis of incisor", "Agenesis of lateral incisor", "Agenesis of maxillary incisor", "Agenesis of permanent teeth", "Aggressive behavior", "Agitation", "Agnosia", "Agyria", "Airway obstruction", "Akinesia", "Alacrima", "Albinism", "Albuminuria", "Alexia", "Alkalosis", "Allergic rhinitis", "Allergy", "Alopecia", "Alopecia of scalp", "Alopecia totalis", "Alopecia universalis", "Alternating esotropia", "Alveolar cell carcinoma", "Alveolar rhabdomyosarcoma", "Alveolar ridge overgrowth", "Alzheimer disease", "Amaurosis fugax", "Ambiguous genitalia", "Ambiguous genitalia female", "Ambiguous genitalia male", "Amblyopia", "Amegakaryocytic thrombocytopenia", "Amelogenesis imperfecta", "Amenorrhea", "Aminoaciduria", "Amniotic constriction ring", "Amyloidosis", "Amyotrophic lateral sclerosis", "Anal atresia", "Anal fissure", "Anal stenosis", "Anaphylactic shock", "Anarthria", "Anasarca", "Anemia of inadequate production", "Anemic pallor", "Anencephaly", "Angina pectoris", "Angioedema", "Angiofibromas", "Angioid streaks of the fundus", "Angiokeratoma", "Angular cheilitis", "Anhidrosis", "Aniridia", "Anisocoria", "Anisocytosis", "Anisopoikilocytosis", "Anisospondyly", "Ankle clonus", "Ankle flexion contracture", "Ankle weakness", "Ankyloblepharon", "Ankyloglossia", "Ankylosis", "Annular pancreas", "Anodontia", "Anomalous trichromacy", "Anomic aphasia", "Anonychia", "Anophthalmia", "Anorectal anomaly", "Anorexia", "Anosmia", "Anotia", "Antenatal onset", "Anterior chamber synechiae", "Anterior open bite malocclusion", "Anterior pituitary dysgenesis", "Anterior plagiocephaly", "Anterior rib cupping", "Anterior synechiae of the anterior chamber", "Anterior uveitis", "Anteriorly placed anus", "Anteverted ears", "Anti thyroid peroxidase antibody positivity", "Antineutrophil antibody positivity", "Antinuclear antibody positivity", "Antiphospholipid antibody positivity", "Anuria", "Aortic aneurysm", "Aortic arch aneurysm", "Aortic atherosclerotic lesion", "Aortic dissection", "Aortic regurgitation", "Aortic root aneurysm", "Aortic valve calcification", "Aortic valve stenosis", "Aphasia", "Aphthous ulcer", "Aplasia cutis congenita", "Aplasia cutis congenita of scalp", "Aplasia cutis congenita on trunk or limbs", "Aplasia cutis congenita over the scalp vertex", "Aplasia hypoplasia affecting bones of the axial skeleton", "Aplasia hypoplasia affecting the anterior segment of the eye", "Aplasia hypoplasia affecting the eye", "Aplasia hypoplasia affecting the fundus", "Aplasia hypoplasia involving bones of the feet", "Aplasia hypoplasia involving bones of the lower limbs", "Aplasia hypoplasia involving bones of the thorax", "Aplasia hypoplasia involving bones of the upper limbs", "Aplasia hypoplasia involving forearm bones", "Aplasia hypoplasia involving the carpal bones", "Aplasia hypoplasia involving the femoral head and neck", "Aplasia hypoplasia involving the metacarpal bones", "Aplasia hypoplasia involving the musculature of the upper limbs", "Aplasia hypoplasia involving the nose", "Aplasia hypoplasia involving the pelvis", "Aplasia hypoplasia involving the sinuses", "Aplasia hypoplasia involving the skeletal musculature", "Aplasia hypoplasia involving the skeleton", "Aplasia hypoplasia involving the vertebral column", "Aplasia hypoplasia of fingers", "Aplasia hypoplasia of metatarsal bones", "Aplasia hypoplasia of the 4th metacarpal", "Aplasia hypoplasia of the 5th finger", "Aplasia hypoplasia of the 5th metacarpal", "Aplasia hypoplasia of the abdominal wall musculature", "Aplasia hypoplasia of the bladder", "Aplasia hypoplasia of the breasts", "Aplasia hypoplasia of the capital femoral epiphysis", "Aplasia hypoplasia of the cerebellar vermis", "Aplasia hypoplasia of the cerebellum", "Aplasia hypoplasia of the cerebral white matter", "Aplasia hypoplasia of the clavicles", "Aplasia hypoplasia of the colon", "Aplasia hypoplasia of the distal phalanges of the hand", "Aplasia hypoplasia of the distal phalanges of the toes", "Aplasia hypoplasia of the distal phalanx of the thumb", "Aplasia hypoplasia of the ear", "Aplasia hypoplasia of the earlobes", "Aplasia hypoplasia of the epiglottis", "Aplasia hypoplasia of the extremities", "Aplasia hypoplasia of the eyebrow", "Aplasia hypoplasia of the eyelid", "Aplasia hypoplasia of the femur", "Aplasia hypoplasia of the fibula", "Aplasia hypoplasia of the gallbladder", "Aplasia hypoplasia of the hallux", "Aplasia hypoplasia of the humerus", "Aplasia hypoplasia of the lungs", "Aplasia hypoplasia of the middle phalanges of the toes", "Aplasia hypoplasia of the nails", "Aplasia hypoplasia of the nasal bone", "Aplasia hypoplasia of the nasal septum", "Aplasia hypoplasia of the nipples", "Aplasia hypoplasia of the optic nerve", "Aplasia hypoplasia of the ovary", "Aplasia hypoplasia of the palmar creases", "Aplasia hypoplasia of the patella", "Aplasia hypoplasia of the phalanges of the hallux", "Aplasia hypoplasia of the phalanges of the hand", "Aplasia hypoplasia of the phalanges of the thumb", "Aplasia hypoplasia of the phalanges of the toes", "Aplasia hypoplasia of the proximal phalanges of the hand", "Aplasia hypoplasia of the pubic bone", "Aplasia hypoplasia of the radius", "Aplasia hypoplasia of the retina", "Aplasia hypoplasia of the ribs", "Aplasia hypoplasia of the sacrum", "Aplasia hypoplasia of the scapulae", "Aplasia hypoplasia of the skin", "Aplasia hypoplasia of the spleen", "Aplasia hypoplasia of the sternum", "Aplasia hypoplasia of the thumb", "Aplasia hypoplasia of the thymus", "Aplasia hypoplasia of the thyroid gland", "Aplasia hypoplasia of the tibia", "Aplasia hypoplasia of the tongue", "Aplasia hypoplasia of the tragus", "Aplasia hypoplasia of the ulna", "Aplasia hypoplasia of the uterus", "Aplasia hypoplasia of the uvula", "Aplasia hypoplasia of the vagina", "Aplasia hypoplasia of toe", "Aplasia involving bones of the extremities", "Aplasia involving bones of the lower limbs", "Aplasia of metacarpal bones", "Aplasia of the fingers", "Aplasia of the middle phalanx of the hand", "Aplasia of the phalanges of the hand", "Aplasia of the phalanges of the toes", "Aplasia of the proximal phalanges of the hand", "Aplasia of the semicircular canal", "Aplasia of the uterus", "Aplastic anemia", "Aplastic clavicle", "Aplastic hypoplastic lacrimal glands", "Aplastic hypoplastic toenail", "Apnea", "Apneic episodes in infancy", "Apneic episodes precipitated by illness fatigue stress", "Appendicular hypotonia", "Apraxia", "Aqueductal stenosis", "Arachnodactyly", "Arachnoid hemangiomatosis", "Areflexia", "Areflexia of lower limbs", "Arm dystonia", "Arnold chiari malformation", "Arnold chiari type i malformation", "Arrhinencephaly", "Arteria lusoria", "Arterial dissection", "Arterial rupture", "Arterial stenosis", "Arterial thrombosis", "Arteriosclerosis", "Arteriovenous malformation", "Arthralgia", "Arthritis", "Arthrogryposis multiplex congenita", "Arthropathy", "Ascending aortic dissection", "Ascending tubular aorta aneurysm", "Ascites", "Aspiration", "Aspiration pneumonia", "Asterixis", "Asthenia", "Asthma", "Astigmatism", "Astrocytoma", "Astrocytosis", "Asymmetric growth", "Asymmetric septal hypertrophy", "Asymmetry of spinal facet joints", "Asymmetry of the ears", "Asymmetry of the thorax", "Atelectasis", "Athetosis", "Atlantoaxial abnormality", "Atlantoaxial dislocation", "Atlantoaxial instability", "Atonic seizure", "Atopic dermatitis", "Atresia of the external auditory canal", "Atrial arrhythmia", "Atrial flutter", "Atrioventricular canal defect", "Atrophic scars", "Atrophy degeneration affecting the brainstem", "Atrophy degeneration affecting the central nervous system", "Atrophy degeneration affecting the cerebrum", "Atrophy degeneration involving the caudate nucleus", "Atrophy degeneration involving the corticospinal tracts", "Atrophy degeneration involving the spinal cord", "Atrophy of alveolar ridges", "Attention deficit hyperactivity disorder", "Attenuation of retinal blood vessels", "Atypical absence seizure", "Auditory hallucinations", "Autism", "Autistic behavior", "Autoamputation", "Autoamputation of digits", "Autoimmune antibody positivity", "Autoimmune hemolytic anemia", "Autoimmune thrombocytopenia", "Autoimmunity", "Autophagic vacuoles", "Autosomal dominant germline de novo mutation", "Avascular necrosis", "Avascular necrosis of the capital femoral epiphysis", "Axial dystonia", "Axial muscle weakness", "Axillary pterygium", "Axonal degeneration", "Axonal degeneration regeneration", "Axonal loss", "Axonal regeneration", "Azoospermia", "B cell lymphoma", "B lymphocytopenia", "Babinski sign", "Back pain", "Bacterial endocarditis", "Barrel shaped chest", "Barrett esophagus", "Basal cell carcinoma", "Basal ganglia calcification", "Basal ganglia cysts", "Basal ganglia gliosis", "Basilar invagination", "Beaded ribs", "Beaking of vertebral bodies", "Bell shaped thorax", "Benign neoplasm of the central nervous system", "Bicarbonaturia", "Biconcave vertebral bodies", "Bicornuate uterus", "Bifid nasal tip", "Bifid nose", "Bifid ribs", "Bifid scrotum", "Bifid tongue", "Bifid uterus", "Bifid uvula", "Bilateral camptodactyly", "Bilateral cleft lip", "Bilateral cleft lip and palate", "Bilateral cleft palate", "Bilateral coxa valga", "Bilateral cryptorchidism", "Bilateral external ear deformity", "Bilateral microphthalmos", "Bilateral polymicrogyria", "Bilateral ptosis", "Bilateral sensorineural hearing impairment", "Bilateral single transverse palmar creases", "Bilateral talipes equinovarus", "Bilateral tonic clonic seizure", "Bilateral tonic clonic seizure with focal onset", "Bilateral tonic clonic seizure with generalized onset", "Bile duct proliferation", "Biliary atresia", "Biliary cirrhosis", "Biliary tract abnormality", "Biliary tract neoplasm", "Bimanual synkinesia", "Biparietal narrowing", "Bird like facies", "Birth length greater than 97th percentile", "Birth length less than 3rd percentile", "Biventricular hypertrophy", "Bladder diverticulum", "Bladder neoplasm", "Bleeding with minor or no trauma", "Blepharitis", "Blepharophimosis", "Blindness", "Blistering by anatomical location", "Blistering by histological location", "Bloodstream infectious agent", "Bloody diarrhea", "Blue irides", "Blue nevus", "Blue sclerae", "Blurred vision", "Bone cyst", "Bone fracture", "Bone marrow foam cells", "Bone marrow hypercellularity", "Bone marrow hypocellularity", "Bone pain", "Bone spicule pigmentation of the retina", "Bowel diverticulosis", "Bowing of the arm", "Bowing of the legs", "Brachycephaly", "Brachydactyly", "Brachyturricephaly", "Bradycardia", "Bradykinesia", "Brain imaging abnormality", "Brain neoplasm", "Brain stem compression", "Branchial anomaly", "Branchial cyst", "Branchial fistula", "Breast aplasia", "Breast carcinoma", "Breast hypoplasia", "Breathing dysregulation", "Breech presentation", "Brisk reflexes", "Brittle hair", "Broad alveolar ridges", "Broad based gait", "Broad chin", "Broad clavicles", "Broad columella", "Broad distal phalanx of finger", "Broad eyebrow", "Broad face", "Broad femoral neck", "Broad finger", "Broad foot", "Broad forehead", "Broad hallux phalanx", "Broad long bones", "Broad metacarpals", "Broad metatarsal", "Broad nail", "Broad nasal tip", "Broad neck", "Broad palm", "Broad phalanx of the toes", "Broad philtrum", "Broad ribs", "Broad thumb", "Broad toe", "Bronchiectasis", "Bronchitis", "Bronchomalacia", "Bronchospasm", "Bruising susceptibility", "Brushfield spots", "Bruxism", "Budd chiari syndrome", "Bulbar palsy", "Bulbar signs", "Bulbous nose", "Bull s eye maculopathy", "Bundle branch block", "Buphthalmos", "Burkitt lymphoma", "Butterfly vertebrae", "Cachexia", "Caesarian section", "Cafe au lait spot", "Calcific stippling", "Calcification of cartilage", "Calcification of the aorta", "Calcinosis", "Calcium nephrolithiasis", "Calcium oxalate nephrolithiasis", "Calf muscle pseudohypertrophy", "Calvarial hyperostosis", "Calvarial osteosclerosis", "Calvarial skull defect", "Camptodactyly of toe", "Capillary hemangioma", "Capillary malformation", "Capitate hamate fusion", "Carcinoid tumor", "Carcinoma", "Cardiac arrest", "Cardiac conduction abnormality", "Cardiac diverticulum", "Cardiac rhabdomyoma", "Cardiac shunt", "Cardiac valve calcification", "Cardiomegaly", "Cardiorespiratory arrest", "Cardiovascular calcification", "Carious teeth", "Carpal bone hypoplasia", "Carpal synostosis", "Cataplexy", "Caudate atrophy", "Cavernous hemangioma", "Cavum septum pellucidum", "Celiac disease", "Cellular immunodeficiency", "Cellulitis", "Central adrenal insufficiency", "Central apnea", "Central diabetes insipidus", "Central heterochromia", "Central hypothyroidism", "Central hypoventilation", "Central nervous system cyst", "Central opacification of the cornea", "Central primitive neuroectodermal tumor", "Central scotoma", "Central sleep apnea", "Central y shaped metacarpal", "Centrally nucleated skeletal muscle fibers", "Centrocecal scotoma", "Cerebellar atrophy", "Cerebellar cortical atrophy", "Cerebellar cyst", "Cerebellar dysplasia", "Cerebellar hemorrhage", "Cerebellar hypoplasia", "Cerebellar malformation", "Cerebellar vermis atrophy", "Cerebral amyloid angiopathy", "Cerebral calcification", "Cerebral cortical atrophy", "Cerebral cortical hemiatrophy", "Cerebral dysmyelination", "Cerebral edema", "Cerebral hamartoma", "Cerebral hemorrhage", "Cerebral hypomyelination", "Cerebral hypoplasia", "Cerebral inclusion bodies", "Cerebral palsy", "Cerebral venous thrombosis", "Cerebral visual impairment", "Cerebral white matter atrophy", "Cerebral white matter hypoplasia", "Cervical kyphosis", "Cervical myelopathy", "Cervical ribs", "Cervical spinal canal stenosis", "Cervical spine instability", "Cervical subluxation", "Cessation of head growth", "Cheilitis", "Cherry red spot of the macula", "Chest pain", "Chilblains", "Childhood onset", "Childhood onset sensorineural hearing impairment", "Childhood onset truncal obesity", "Chills", "Chin with horizontal crease", "Choanal stenosis", "Choking episodes", "Cholangiocarcinoma", "Cholangitis", "Cholecystitis", "Cholestasis", "Cholestatic liver disease", "Chondrocalcinosis", "Chondrosarcoma", "Chordee", "Chorea", "Choreoathetosis", "Choriocarcinoma", "Chorioretinal atrophy", "Chorioretinal coloboma", "Chorioretinal degeneration", "Chorioretinal dysplasia", "Chorioretinal hypopigmentation", "Choroid plexus carcinoma", "Choroid plexus cyst", "Choroidal melanoma", "Choroidal neovascularization", "Chromosomal breakage induced by crosslinking agents", "Chromosomal breakage induced by ionizing radiation", "Chromosome breakage", "Chronic atrophic gastritis", "Chronic axonal neuropathy", "Chronic bronchitis", "Chronic constipation", "Chronic diarrhea", "Chronic fatigue", "Chronic hemolytic anemia", "Chronic hepatic failure", "Chronic infection", "Chronic kidney disease", "Chronic leukemia", "Chronic lung disease", "Chronic lymphatic leukemia", "Chronic mucocutaneous candidiasis", "Chronic neutropenia", "Chronic noninfectious lymphadenopathy", "Chronic oral candidiasis", "Chronic otitis media", "Chronic pulmonary obstruction", "Chronic rhinitis", "Chronic sinusitis", "Chylothorax", "Cigarette paper scars", "Cirrhosis", "Cleft hard palate", "Cleft lip", "Cleft soft palate", "Cleft upper lip", "Clinodactyly", "Clinodactyly of the 2nd finger", "Clitoral hypoplasia", "Clonic seizure", "Clonus", "Cloverleaf skull", "Clubbing", "Clubbing of fingers", "Clubbing of toes", "Clumsiness", "Cns demyelination", "Cns hypomyelination", "Coarctation of aorta", "Coarse facial features", "Coarse hair", "Cochlear malformation", "Cognitive impairment", "Cogwheel rigidity", "Cold induced muscle cramps", "Colitis", "Collectionism", "Coloboma", "Colon cancer", "Color vision defect", "Color vision test abnormality", "Colorectal polyposis", "Colpocephaly", "Coma", "Combined immunodeficiency", "Communicating hydrocephalus", "Complete atrioventricular canal defect", "Complete duplication of phalanx of hand", "Complex febrile seizure", "Concave nail", "Concave nasal ridge", "Concentric hypertrophic cardiomyopathy", "Cone cone rod dystrophy", "Cone shaped epiphyses of the phalanges of the hand", "Cone shaped epiphysis", "Confetti like hypopigmented macules", "Confusion", "Congenital adrenal hyperplasia", "Congenital bilateral hip dislocation", "Congenital blindness", "Congenital contracture", "Congenital craniofacial dysostosis", "Congenital diaphragmatic hernia", "Congenital finger flexion contractures", "Congenital hemolytic anemia", "Congenital hepatic fibrosis", "Congenital hip dislocation", "Congenital hypothyroidism", "Congenital ichthyosiform erythroderma", "Congenital localized absence of skin", "Congenital malformation of the great arteries", "Congenital malformation of the left heart", "Congenital malformation of the right heart", "Congenital muscular dystrophy", "Congenital muscular torticollis", "Congenital nonbullous ichthyosiform erythroderma", "Congenital nystagmus", "Congenital onset", "Congenital posterior urethral valve", "Congenital ptosis", "Congenital sensorineural hearing impairment", "Congenital stationary night blindness", "Congenital thrombocytopenia", "Congestive heart failure", "Conical tooth", "Conjugated hyperbilirubinemia", "Conjunctival hamartoma", "Conjunctival icterus", "Connective tissue nevi", "Conspicuously happy disposition", "Constipation", "Constitutional symptom", "Constriction of peripheral visual field", "Contiguous gene syndrome", "Contractures involving the joints of the feet", "Contractures of the joints of the lower limbs", "Contractures of the joints of the upper limbs", "Contractures of the large joints", "Convex nasal ridge", "Coombs positive hemolytic anemia", "Cor pulmonale", "Corneal dystrophy", "Corneal erosion", "Corneal neovascularization", "Corneal opacity", "Corneal scarring", "Corneal ulceration", "Coronal cleft vertebrae", "Coronal craniosynostosis", "Coronary artery aneurysm", "Coronary artery atherosclerosis", "Corpus callosum atrophy", "Cortical cataract", "Cortical dysplasia", "Cortical myoclonus", "Cortical thickening of long bone diaphyses", "Corticospinal tract hypoplasia", "Cough", "Coxa valga", "Coxa vara", "Crackles", "Cranial asymmetry", "Cranial hyperostosis", "Cranial nerve compression", "Craniofacial asymmetry", "Craniofacial dysostosis", "Craniofacial hyperostosis", "Craniofacial osteosclerosis", "Craniosynostosis", "Crossed fused renal ectopia", "Crumpled long bones", "Cryptophthalmos", "Cryptorchidism", "Csf lymphocytic pleiocytosis", "Csf pleocytosis", "Cubitus valgus", "Cupped ear", "Cupped ribs", "Curly eyelashes", "Curly hair", "Cutaneous abscess", "Cutaneous amyloidosis", "Cutaneous cyst", "Cutaneous finger syndactyly", "Cutaneous melanoma", "Cutaneous photosensitivity", "Cutaneous syndactyly", "Cutaneous syndactyly of toes", "Cutis laxa", "Cutis marmorata", "Cyanosis", "Cyanotic episode", "Cyclopia", "Cystic hygroma", "Cystic liver disease", "Cystic renal dysplasia", "Cystinuria", "Cystoid macular edema", "Cytochrome c oxidase negative muscle fibers", "Dark urine", "Death in adolescence", "Death in adulthood", "Death in childhood", "Death in infancy", "Decerebrate rigidity", "Decreased absent ankle reflexes", "Decreased activity of mitochondrial complex i", "Decreased activity of mitochondrial complex ii", "Decreased activity of mitochondrial complex iii", "Decreased activity of mitochondrial complex iv", "Decreased activity of nadph oxidase", "Decreased activity of the pyruvate dehydrogenase complex", "Decreased adenosylcobalamin", "Decreased adipose tissue", "Decreased calvarial ossification", "Decreased cd4 cd8 ratio", "Decreased cervical spine flexion due to contractures of posterior cervical muscles", "Decreased cervical spine mobility", "Decreased circulating acth level", "Decreased circulating aldosterone level", "Decreased circulating androgen concentration", "Decreased circulating antibody level", "Decreased circulating copper concentration", "Decreased circulating cortisol level", "Decreased circulating follicle stimulating hormone concentration", "Decreased circulating gaba concentration", "Decreased circulating gonadotropin concentration", "Decreased circulating iga level", "Decreased circulating igg level", "Decreased circulating igg subclass level", "Decreased circulating level of specific antibody", "Decreased circulating progesterone", "Decreased circulating total iga", "Decreased circulating total igg", "Decreased circulating total igm", "Decreased corneal reflex", "Decreased facial expression", "Decreased fertility", "Decreased fertility in females", "Decreased fertility in males", "Decreased head circumference", "Decreased lacrimation", "Decreased ldl cholesterol concentration", "Decreased light and dark adapted electroretinogram amplitude", "Decreased lymphocyte apoptosis", "Decreased lymphocyte proliferation in response to mitogen", "Decreased mean corpuscular hemoglobin concentration", "Decreased mean corpuscular volume", "Decreased methylcobalamin", "Decreased methylmalonyl coa mutase activity", "Decreased muscle mass", "Decreased number of large peripheral myelinated nerve fibers", "Decreased number of peripheral myelinated nerve fibers", "Decreased palmar creases", "Decreased patellar reflex", "Decreased plasma carnitine", "Decreased proportion of cd3 positive t cells", "Decreased proportion of cd4 positive helper t cells", "Decreased proportion of cd8 positive t cells", "Decreased pulmonary function", "Decreased serum complement c3", "Decreased serum complement c4", "Decreased serum insulin like growth factor 1", "Decreased serum iron", "Decreased size of nerve terminals", "Decreased specific anti polysaccharide antibody level", "Decreased specific antibody response to protein vaccine", "Decreased specific antibody response to vaccination", "Decreased specific pneumococcal antibody level", "Decreased testicular size", "Decreased thyroid stimulating hormone level", "Decreased urine output", "Deep palmar crease", "Deep philtrum", "Deep plantar creases", "Deep set nails", "Deep venous thrombosis", "Deeply set eye", "Defective dna repair after ultraviolet radiation damage", "Defective t cell proliferation", "Deformed rib cage", "Deformed sella turcica", "Deformed tarsal bones", "Degeneration of the lateral corticospinal tracts", "Degeneration of the striatum", "Dehydration", "Delayed ability to roll over", "Delayed ability to sit", "Delayed ability to stand", "Delayed ability to walk", "Delayed closure of the anterior fontanelle", "Delayed cns myelination", "Delayed cranial suture closure", "Delayed epiphyseal ossification", "Delayed eruption of permanent teeth", "Delayed eruption of primary teeth", "Delayed eruption of teeth", "Delayed fine motor development", "Delayed gross motor development", "Delayed menarche", "Delayed myelination", "Delayed ossification of carpal bones", "Delayed proximal femoral epiphyseal ossification", "Delayed puberty", "Delayed social development", "Delirium", "Delusions", "Dementia", "Demyelinating peripheral neuropathy", "Dental crowding", "Dental malocclusion", "Depletion of mitochondrial dna in muscle tissue", "Deposits immunoreactive to beta amyloid protein", "Depressed nasal bridge", "Depressed nasal ridge", "Depressed nasal tip", "Depression", "Dermal atrophy", "Dermal translucency", "Dermatological manifestations of systemic disorders", "Dermoid cyst", "Descending aortic dissection", "Desquamation of skin soon after birth", "Developmental cataract", "Developmental glaucoma", "Developmental regression", "Developmental stagnation", "Deviated nasal septum", "Deviation of the 2nd finger", "Deviation of the 3rd finger", "Deviation of the hallux", "Deviation of the hand or of fingers of the hand", "Deviation of the thumb", "Deviation of toes", "Diabetes insipidus", "Dialeptic seizure", "Diaphragmatic eventration", "Diaphragmatic paralysis", "Diaphragmatic weakness", "Diaphyseal sclerosis", "Diaphyseal thickening", "Diarrhea", "Diastasis recti", "Diastema", "Dicarboxylic aciduria", "Difficulty climbing stairs", "Difficulty in tongue movements", "Difficulty running", "Difficulty standing", "Difficulty walking", "Diffuse alveolar hemorrhage", "Diffuse cerebellar atrophy", "Diffuse cerebral atrophy", "Diffuse mesangial sclerosis", "Diffuse optic disc pallor", "Diffuse white matter abnormalities", "Digenic inheritance", "Dilatation of the cerebral artery", "Dilatation of the ventricular cavity", "Dilated cardiomyopathy", "Dilated fourth ventricle", "Dilated third ventricle", "Dilation of lateral ventricles", "Dilation of virchow robin spaces", "Diminished ability to concentrate", "Diminished motivation", "Diminished movement", "Dimple chin", "Diplopia", "Disinhibition", "Displacement of the urethral meatus", "Disproportionate short limb short stature", "Disproportionate short stature", "Disproportionate short trunk short stature", "Disproportionate tall stature", "Disseminated intravascular coagulation", "Distal amyotrophy", "Distal arthrogryposis", "Distal joint laxity", "Distal lower limb amyotrophy", "Distal lower limb muscle weakness", "Distal muscle weakness", "Distal peripheral sensory neuropathy", "Distal sensory impairment", "Distal sensory impairment of all modalities", "Distal sensory loss of all modalities", "Distal upper limb amyotrophy", "Distal upper limb muscle weakness", "Disturbance of facial expression", "Dolichocephaly", "Double aortic arch", "Down sloping shoulders", "Downslanted palpebral fissures", "Downturned corners of mouth", "Drowsiness", "Drusen", "Dry hair", "Dry skin", "Duodenal adenocarcinoma", "Duodenal atresia", "Duodenal stenosis", "Duplicated collecting system", "Duplication involving bones of the feet", "Duplication of hand bones", "Duplication of phalanx of hallux", "Duplication of the distal phalanx of hand", "Duplication of the distal phalanx of the thumb", "Duplication of thumb phalanx", "Dysarthria", "Dyscalculia", "Dyschromatopsia", "Dysdiadochokinesis", "Dysesthesia", "Dysgammaglobulinemia", "Dysgenesis of the cerebellar vermis", "Dysgenesis of the hippocampus", "Dysgerminoma", "Dysgraphia", "Dyskinesia", "Dyslexia", "Dysmenorrhea", "Dysmetria", "Dysmetric saccades", "Dysostosis multiplex", "Dyspareunia", "Dysphagia", "Dysphasia", "Dysphonia", "Dysplasia of the femoral head", "Dysplastic corpus callosum", "Dyspnea", "Dystonia", "Dystrophic fingernails", "Dystrophic toenail", "Dysuria", "Ear pain", "Early onset absence seizures", "Early onset of sexual maturation", "Easy fatigability", "Ecchymosis", "Echolalia", "Eclabion", "Eclampsia", "Ectodermal dysplasia", "Ectopia lentis", "Ectopia pupillae", "Ectopic anus", "Ectopic calcification", "Ectopic kidney", "Ectrodactyly", "Ectropion", "Ectropion of lower eyelids", "Eczema", "Eczematoid dermatitis", "Edema of the dorsum of feet", "Edema of the dorsum of hands", "Eeg with abnormally slow frequencies", "Eeg with burst suppression", "Eeg with continuous slow activity", "Eeg with focal epileptiform discharges", "Eeg with focal sharp slow waves", "Eeg with focal sharp waves", "Eeg with focal spike waves", "Eeg with focal spikes", "Eeg with frontal epileptiform discharges", "Eeg with generalized sharp slow waves", "Eeg with generalized slow activity", "Eeg with irregular generalized spike and wave complexes", "Eeg with multifocal slow activity", "Eeg with polyspike wave complexes", "Eeg with spike wave complexes", "Eeg with spike wave complexes 2 5 3 5 hz", "Elbow ankylosis", "Elbow flexion contracture", "Elevated alkaline phosphatase of bone origin", "Elevated calcitonin", "Elevated circulating alanine aminotransferase concentration", "Elevated circulating aspartate aminotransferase concentration", "Elevated circulating follicle stimulating hormone level", "Elevated circulating glutaric acid concentration", "Elevated circulating growth hormone concentration", "Elevated circulating long chain fatty acid concentration", "Elevated circulating parathyroid hormone level", "Elevated circulating thyroid stimulating hormone concentration", "Elevated creatine kinase after exercise", "Elevated diastolic blood pressure", "Elevated gamma glutamyltransferase level", "Elevated hemoglobin a1c", "Elevated hepatic transaminase", "Elevated lactate pyruvate ratio", "Elevated mean arterial pressure", "Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells", "Elevated pulmonary artery pressure", "Elevated serum acid phosphatase", "Elevated systolic blood pressure", "Elevated tissue non specific alkaline phosphatase", "Elevated total serum tryptase", "Elevated urinary carboxylic acid", "Elevated urinary delta aminolevulinic acid", "Elevated urinary dicarboxylic acid level", "Elevated urinary monocarboxylic acid level", "Elfin facies", "Elliptocytosis", "Elongated superior cerebellar peduncle", "Embryonal neoplasm", "Embryonal renal neoplasm", "Emg abnormality", "Emg axonal abnormality", "Emg chronic denervation signs", "Emg decremental response of compound muscle action potential to repetitive nerve stimulation", "Emg impaired neuromuscular transmission", "Emg myopathic abnormalities", "Emg neuropathic changes", "Emg slow motor conduction", "Emotional lability", "Emphysema", "Enamel hypoplasia", "Encephalocele", "Encephalopathy", "Enchondroma", "Endocardial fibroelastosis", "Endocardial fibrosis", "Endocarditis", "Enlarged cerebellum", "Enlarged cisterna magna", "Enlarged joints", "Enlarged kidney", "Enlarged metaphyses", "Enlarged ovaries", "Enlarged posterior fossa", "Enlarged thorax", "Enlarged tonsils", "Enlargement of the costochondral junction", "Enlargement of the wrists", "Enterocolitis", "Enthesitis", "Entropion", "Enuresis", "Ependymoma", "Epicanthus", "Epicanthus inversus", "Epidermal acanthosis", "Epidermal hyperkeratosis", "Epidermal nevus", "Epidermoid cyst", "Epigastric pain", "Epileptic encephalopathy", "Epileptic spasm", "Epiphora", "Epiphyseal dysplasia", "Epiphyseal stippling", "Epiretinal membrane", "Episodic ataxia", "Episodic hyperhidrosis", "Episodic hypertension", "Episodic pain", "Episodic respiratory distress", "Episodic tachypnea", "Episodic vomiting", "Epispadias", "Epistaxis", "Equinovarus deformity", "Equinus calcaneus", "Erectile dysfunction", "Erlenmeyer flask deformity of the femurs", "Eruption failure", "Erysipelas", "Erythema", "Erythema nodosum", "Erythematous papule", "Erythematous plaque", "Erythrocyte inclusion bodies", "Erythroderma", "Erythroid hyperplasia", "Erythroid hypoplasia", "Esodeviation", "Esophageal atresia", "Esophageal carcinoma", "Esophageal neoplasm", "Esophageal stenosis", "Esophageal stricture", "Esophageal varix", "Esophagitis", "Ethylmalonic aciduria", "Eunuchoid habitus", "Euryblepharon", "Eversion of lateral third of lower eyelids", "Everted upper lip vermilion", "Exaggerated cupid s bow", "Exaggerated startle response", "Exanthem", "Excessive daytime somnolence", "Excessive salivation", "Excessive wrinkled skin", "Excessive wrinkling of palmar skin", "Exercise induced muscle cramps", "Exercise induced muscle fatigue", "Exercise induced muscle stiffness", "Exercise induced myalgia", "Exercise induced myoglobinuria", "Exercise induced rhabdomyolysis", "Exercise intolerance", "Exertional dyspnea", "Exodeviation", "Exostoses", "Expressive aphasia", "Expressive language delay", "External ear malformation", "External genital hypoplasia", "External ophthalmoplegia", "Extra axial cerebrospinal fluid accumulation", "Extrahepatic cholestasis", "Extramedullary hematopoiesis", "Extrapyramidal dyskinesia", "Extrapyramidal muscular rigidity", "Exudative retinal detachment", "Eyelid coloboma", "Eyelid myoclonus", "Facial asymmetry", "Facial capillary hemangioma", "Facial cleft", "Facial diplegia", "Facial edema", "Facial erythema", "Facial grimacing", "Facial hemangioma", "Facial hyperostosis", "Facial hypertrichosis", "Facial hypotonia", "Facial paralysis", "Facial shape deformation", "Facial telangiectasia", "Failure of eruption of permanent teeth", "Failure to thrive", "Failure to thrive in infancy", "Fair hair", "Falls", "Fasciculations", "Fasting hyperinsulinemia", "Fasting hypoglycemia", "Fat malabsorption", "Fatigable weakness of bulbar muscles", "Fatigable weakness of distal limb muscles", "Fatigable weakness of respiratory muscles", "Fatigable weakness of skeletal muscles", "Fatigable weakness of swallowing muscles", "Fatiguable weakness of proximal limb muscles", "Fatigue", "Fatty replacement of skeletal muscle", "Feeding difficulties", "Feeding difficulties in infancy", "Female external genitalia in individual with 46 xy karyotype", "Female hypogonadism", "Female infertility", "Female pseudohermaphroditism", "Female reproductive system neoplasm", "Female sexual dysfunction", "Femoral bowing", "Femoral hernia", "Fetal akinesia sequence", "Fetal distress", "Fetal onset", "Fetal polyuria", "Fetal ultrasound soft marker", "Fever", "Fibroadenoma of the breast", "Fibrosarcoma", "Fibrous tissue neoplasm", "Fibular aplasia", "Fibular hypoplasia", "Fine hair", "Finger agnosia", "Finger clinodactyly", "Finger swelling", "Finger syndactyly", "Fingernail dysplasia", "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "First degree atrioventricular block", "First dorsal interossei muscle weakness", "Flank pain", "Flared iliac wing", "Flared metaphysis", "Flared nostrils", "Flaring of rib cage", "Flat acetabular roof", "Flat cornea", "Flat face", "Flat forehead", "Flat nasal alae", "Flat occiput", "Flattened epiphysis", "Flattened femoral epiphysis", "Flattened femoral head", "Flexion contracture of digit", "Flexion contracture of thumb", "Fluctuations in consciousness", "Flushing", "Foam cells", "Focal aware seizure", "Focal cortical dysplasia", "Focal cortical dysplasia type ii", "Focal dystonia", "Focal emotional seizure", "Focal impaired awareness seizure", "Focal motor seizure", "Focal myoclonic seizure", "Focal non motor seizure", "Focal onset seizure", "Focal segmental glomerulosclerosis", "Focal t2 hyperintense basal ganglia lesion", "Focal t2 hyperintense brainstem lesion", "Focal tonic seizure", "Focal white matter lesions", "Follicular hyperkeratosis", "Follicular hyperplasia", "Follicular thyroid carcinoma", "Food allergy", "Food intolerance", "Foot acroosteolysis", "Foot dorsiflexor weakness", "Foot oligodactyly", "Fractures of the long bones", "Fragile nails", "Fragile skin", "Fragmented epiphyses", "Freckling", "Frequent falls", "Frontal balding", "Frontal cortical atrophy", "Frontal hirsutism", "Frontal lobe dementia", "Frontotemporal cerebral atrophy", "Frontotemporal dementia", "Full cheeks", "Fulminant hepatic failure", "Functional abnormality of male internal genitalia", "Functional abnormality of the gastrointestinal tract", "Functional abnormality of the inner ear", "Functional abnormality of the middle ear", "Functional intestinal obstruction", "Functional motor deficit", "Furrowed tongue", "Fused cervical vertebrae", "Fusion of the cerebellar hemispheres", "Gait ataxia", "Gait disturbance", "Gait imbalance", "Ganglioneuroblastoma", "Ganglioneuroma", "Gangrene", "Gastric ulcer", "Gastritis", "Gastroesophageal reflux", "Gastrointestinal atresia", "Gastrointestinal carcinoma", "Gastrointestinal hemorrhage", "Gastrointestinal infarctions", "Gastrointestinal inflammation", "Gastrointestinal obstruction", "Gastrointestinal stroma tumor", "Gastroparesis", "Gastrostomy tube feeding in infancy", "Gaze evoked nystagmus", "Generalized abnormality of skin", "Generalized aminoaciduria", "Generalized amyotrophy", "Generalized clonic seizure", "Generalized dystonia", "Generalized edema", "Generalized hirsutism", "Generalized hyperkeratosis", "Generalized hyperpigmentation", "Generalized hyperreflexia", "Generalized hypertrichosis", "Generalized hypopigmentation", "Generalized hypopigmentation of hair", "Generalized hypotonia", "Generalized joint laxity", "Generalized limb muscle atrophy", "Generalized lipodystrophy", "Generalized lymphadenopathy", "Generalized muscle weakness", "Generalized myoclonic atonic seizure", "Generalized myoclonic seizure", "Generalized neonatal hypotonia", "Generalized onset motor seizure", "Generalized onset seizure", "Generalized osteoporosis", "Generalized osteosclerosis", "Generalized tonic seizure", "Genetic anticipation", "Genital neoplasm", "Genu recurvatum", "Genu valgum", "Genu varum", "Geographic atrophy", "Germ cell neoplasia", "Germinoma", "Giant platelets", "Giant somatosensory evoked potentials", "Gingival bleeding", "Gingival fibromatosis", "Gingival overgrowth", "Gingival recession", "Gingivitis", "Glaucoma", "Glioblastoma multiforme", "Glioma", "Gliosis", "Global brain atrophy", "Glomerular deposits", "Glomerular sclerosis", "Glomerulonephritis", "Glomerulopathy", "Glomus jugular tumor", "Glossitis", "Glossoptosis", "Glucose intolerance", "Glutaric aciduria", "Glycosuria", "Goiter", "Gonadal dysgenesis", "Gonadal neoplasm", "Gonadoblastoma", "Gonosomal inheritance", "Gout", "Gowers sign", "Grammar specific speech disorder", "Granulocytopenia", "Granulomatosis", "Gray matter heterotopia", "Gynecomastia", "Hallucinations", "Hallux valgus", "Hamartoma", "Hamartoma of the eye", "Hamartoma of tongue", "Hamartomatous polyposis", "Hammertoe", "Hamstring contractures", "Hand apraxia", "Hand clenching", "Hand muscle weakness", "Hand oligodactyly", "Hand polydactyly", "Hand tremor", "Handgrip myotonia", "Happy demeanor", "Hashimoto thyroiditis", "Head banging", "Head titubation", "Head tremor", "Headache", "Heart block", "Heat intolerance", "Heinz bodies", "Helicobacter pylori infection", "Hemangioblastoma", "Hemangiomatosis", "Hematochezia", "Hematological neoplasm", "Hemianopia", "Hemiatrophy", "Hemifacial spasm", "Hemihypertrophy", "Hemimegalencephaly", "Hemiparesis", "Hemiplegia hemiparesis", "Hemivertebrae", "Hemoglobinuria", "Hemolytic anemia", "Hemolytic uremic syndrome", "Hemoptysis", "Hemorrhage of the eye", "Heparan sulfate excretion in urine", "Hepatic cysts", "Hepatic encephalopathy", "Hepatic failure", "Hepatic fibrosis", "Hepatic necrosis", "Hepatitis", "Hepatoblastoma", "Hepatocellular adenoma", "Hepatocellular carcinoma", "Hepatomegaly", "Hepatosplenomegaly", "Hereditary nonpolyposis colorectal carcinoma", "Hernia", "Herpes simplex encephalitis", "Heterochromia iridis", "Heterogeneous", "Heteronymous hemianopia", "Heterophoria", "Heterotaxy", "Heterotropia", "Hiatus hernia", "High anterior hairline", "High forehead", "High frequency hearing impairment", "High frequency sensorineural hearing impairment", "High hypermetropia", "High myopia", "High narrow palate", "High palate", "High pitched voice", "Highly arched eyebrow", "Hip contracture", "Hip dislocation", "Hip dysplasia", "Hip flexor weakness", "Hip osteoarthritis", "Hip pain", "Hip subluxation", "Hirsutism", "Hoarse cry", "Hoarse voice", "Hodgkin lymphoma", "Holoprosencephaly", "Homocystinuria", "Honeycomb lung", "Horizontal eyebrow", "Horizontal nystagmus", "Horizontal pendular nystagmus", "Horseshoe kidney", "Humeroradial synostosis", "Hydranencephaly", "Hydrocele testis", "Hydrocephalus", "Hydrops fetalis", "Hydroureter", "Hydroxyprolinuria", "Hyperactive deep tendon reflexes", "Hyperactive patellar reflex", "Hyperactivity", "Hyperacusis", "Hyperaldosteronism", "Hyperammonemia", "Hyperautofluorescent retinal lesion", "Hypercalcemia", "Hyperchloremic acidosis", "Hypercholesterolemia", "Hypercoagulability", "Hyperconvex fingernails", "Hyperconvex nail", "Hyperesthesia", "Hyperextensibility at wrists", "Hyperextensibility of the finger joints", "Hyperextensibility of the knee", "Hyperextensible skin", "Hypergalactosemia", "Hyperglycemia", "Hypergonadotropic hypogonadism", "Hypergranulosis", "Hyperhidrosis", "Hyperhomocystinemia", "Hyperinsulinemic hypoglycemia", "Hyperintensity of cerebral white matter on mri", "Hyperkalemia", "Hyperkeratosis", "Hyperkeratotic papule", "Hyperketonemia", "Hyperkinetic movements", "Hyperlipidemia", "Hyperlipoproteinemia", "Hyperlordosis", "Hypermagnesemia", "Hypermethioninemia", "Hypermetric saccades", "Hypermetropia", "Hypernatriuria", "Hyperorality", "Hyperostosis", "Hyperoxaluria", "Hyperparathyroidism", "Hyperphenylalaninemia", "Hyperphosphatemia", "Hyperphosphaturia", "Hyperpigmentation in sun exposed areas", "Hyperpigmentation of the fundus", "Hyperpigmentation of the skin", "Hyperpituitarism", "Hyperplasia of the maxilla", "Hyperreflexia", "Hyperreflexia in upper limbs", "Hypersomnia", "Hypersplenism", "Hypertelorism", "Hypertension associated with pheochromocytoma", "Hypertensive crisis", "Hyperthyroidism", "Hypertonia", "Hypertrichosis", "Hypertriglyceridemia", "Hypertrophic cardiomyopathy", "Hypertrophic nerve changes", "Hyperuricemia", "Hyperuricosuria", "Hyperventilation", "Hypoamylasemia", "Hypocalcemia", "Hypocalcemic seizures", "Hypocalcemic tetany", "Hypocalciuria", "Hypochloremia", "Hypocholesterolemia", "Hypochromia", "Hypochromic anemia", "Hypochromic microcytic anemia", "Hypodontia", "Hypoglycemic coma", "Hypoglycemic seizures", "Hypoglycorrhachia", "Hypogonadism", "Hypogonadotropic hypogonadism", "Hypohidrosis", "Hypointensity of cerebral white matter on mri", "Hypokalemia", "Hypokalemic alkalosis", "Hypokalemic metabolic alkalosis", "Hypoketotic hypoglycemia", "Hypokinesia", "Hypolipidemia", "Hypolipoproteinemia", "Hypomelanotic macule", "Hypomethioninemia", "Hypometric saccades", "Hypomimic face", "Hypoparathyroidism", "Hypophosphatemia", "Hypophosphatemic rickets", "Hypopigmentation of the fundus", "Hypopigmentation of the skin", "Hypopigmented macule", "Hypopigmented skin patches", "Hypopituitarism", "Hypoplasia of olfactory tract", "Hypoplasia of penis", "Hypoplasia of teeth", "Hypoplasia of the brainstem", "Hypoplasia of the corpus callosum", "Hypoplasia of the ear cartilage", "Hypoplasia of the epiglottis", "Hypoplasia of the femoral head", "Hypoplasia of the fovea", "Hypoplasia of the frontal lobes", "Hypoplasia of the iris", "Hypoplasia of the musculature", "Hypoplasia of the odontoid process", "Hypoplasia of the olfactory bulb", "Hypoplasia of the pons", "Hypoplasia of the primary teeth", "Hypoplasia of the radius", "Hypoplasia of the uterus", "Hypoplasia of the vagina", "Hypoplasia of the ventral pons", "Hypoplastic anemia", "Hypoplastic aortic arch", "Hypoplastic cervical vertebrae", "Hypoplastic dermoepidermal hemidesmosomes", "Hypoplastic facial bones", "Hypoplastic female external genitalia", "Hypoplastic fifth fingernail", "Hypoplastic fifth toenail", "Hypoplastic fingernail", "Hypoplastic frontal sinuses", "Hypoplastic heart", "Hypoplastic helices", "Hypoplastic hippocampus", "Hypoplastic ilia", "Hypoplastic iliac wing", "Hypoplastic iris stroma", "Hypoplastic labia majora", "Hypoplastic labia minora", "Hypoplastic nipples", "Hypoplastic pelvis", "Hypoplastic pubic rami", "Hypoplastic spleen", "Hypoplastic toenails", "Hypoplastic vertebral bodies", "Hypoproteinemia", "Hyporeflexia", "Hyporeflexia of lower limbs", "Hyporeflexia of upper limbs", "Hyposmia", "Hypotelorism", "Hypotension", "Hypothalamic gonadotropin releasing hormone deficiency", "Hypothalamic hamartoma", "Hypothalamic hypothyroidism", "Hypothermia", "Hypotriglyceridemia", "Hypouricemia", "Hypoventilation", "Hypovolemic shock", "Hypsarrhythmia", "Ichthyosis", "Ileus", "Immotile sperm", "Immune dysregulation", "Immunodeficiency", "Immunologic hypersensitivity", "Impacted tooth", "Impaired adp induced platelet aggregation", "Impaired antigen specific response", "Impaired collagen induced platelet aggregation", "Impaired distal proprioception", "Impaired distal tactile sensation", "Impaired distal vibration sensation", "Impaired epinephrine induced platelet aggregation", "Impaired glucose tolerance", "Impaired horizontal smooth pursuit", "Impaired lymphocyte transformation with phytohemagglutinin", "Impaired mastication", "Impaired neutrophil bactericidal activity", "Impaired oropharyngeal swallow response", "Impaired pain sensation", "Impaired proprioception", "Impaired renal concentrating ability", "Impaired smooth pursuit", "Impaired social interactions", "Impaired t cell function", "Impaired tactile sensation", "Impaired tandem gait", "Impaired temperature sensation", "Impaired use of nonverbal behaviors", "Impaired vibration sensation at ankles", "Impaired vibration sensation in the lower limbs", "Impaired vibratory sensation", "Impaired visuospatial constructive cognition", "Impairment in personality functioning", "Impairment of activities of daily living", "Impotence", "Inability to walk", "Inappropriate antidiuretic hormone secretion", "Inappropriate behavior", "Inappropriate crying", "Inappropriate laughter", "Incisor macrodontia", "Incomitant strabismus", "Incomplete partition of the cochlea type ii", "Incomplete penetrance", "Incoordination", "Increased adipose tissue", "Increased arm span", "Increased aspartate family amino acid level in urine", "Increased b cell count", "Increased blood pressure", "Increased blood urea nitrogen", "Increased body mass index", "Increased body weight", "Increased bone mineral density", "Increased c peptide level", "Increased cerebral lipofuscin", "Increased circulating acth level", "Increased circulating androgen concentration", "Increased circulating antibody level", "Increased circulating cortisol level", "Increased circulating gonadotropin level", "Increased circulating iga level", "Increased circulating igg level", "Increased circulating igm level", "Increased circulating lactate dehydrogenase concentration", "Increased circulating prolactin concentration", "Increased circulating renin level", "Increased connective tissue", "Increased csf lactate", "Increased density of long bones", "Increased endomysial connective tissue", "Increased fecal porphyrin", "Increased female libido", "Increased head circumference", "Increased hepatic glycogen content", "Increased hepatocellular lipid droplets", "Increased intracranial pressure", "Increased intramyocellular lipid droplets", "Increased laxity of ankles", "Increased ldl cholesterol concentration", "Increased level of hippuric acid in urine", "Increased level of l fucose in urine", "Increased mean corpuscular hemoglobin concentration", "Increased mean corpuscular volume", "Increased megakaryocyte count", "Increased muscle fatiguability", "Increased muscle glycogen content", "Increased muscle lipid content", "Increased nuchal translucency", "Increased overbite", "Increased proportion of cd25 mast cells", "Increased proteinogenic amino acid level in urine", "Increased sensitivity to ionizing radiation", "Increased serine family amino acid in urine", "Increased serum iron", "Increased serum lactate", "Increased serum pyruvate", "Increased serum serotonin", "Increased serum testosterone level", "Increased skull ossification", "Increased sulfur amino acid level in urine", "Increased susceptibility to fractures", "Increased theta frequency activity in eeg", "Increased total bilirubin", "Increased urinary cortisol level", "Increased urinary non proteinogenic amino acid level", "Increased urine alpha ketoglutarate concentration", "Increased urine proteinogenic amino acid derivative level", "Increased vertebral height", "Ineffective esophageal peristalsis", "Infantile axial hypotonia", "Infantile encephalopathy", "Infantile muscular hypotonia", "Infantile onset", "Infantile spasms", "Infection related seizure", "Infectious encephalitis", "Inferior lens subluxation", "Inferior vermis hypoplasia", "Infertility", "Inflammation of the large intestine", "Inflammatory abnormality of the eye", "Inflexible adherence to routines or rituals", "Inguinal freckling", "Inguinal hernia", "Insidious onset", "Insomnia", "Inspiratory stridor", "Insulin resistance", "Insulin resistant diabetes mellitus", "Intellectual disability borderline", "Intellectual disability mild", "Intellectual disability moderate", "Intellectual disability profound", "Intellectual disability progressive", "Intellectual disability severe", "Intercostal muscle weakness", "Interictal eeg abnormality", "Intermittent diarrhea", "Intermittent episodes of respiratory insufficiency due to muscle weakness", "Internally nucleated skeletal muscle fibers", "Interrupted aortic arch", "Interstitial cardiac fibrosis", "Interstitial pneumonitis", "Intestinal atresia", "Intestinal bleeding", "Intestinal fistula", "Intestinal hypoplasia", "Intestinal malrotation", "Intestinal polyp", "Intestinal pseudo obstruction", "Intraalveolar phospholipid accumulation", "Intracellular accumulation of autofluorescent lipopigment storage material", "Intracranial hemorrhage", "Intracranial meningioma", "Intractable diarrhea", "Intrauterine growth retardation", "Intrinsic hand muscle atrophy", "Intussusception", "Inverted nipples", "Involuntary movements", "Iridocyclitis", "Iris atrophy", "Iris coloboma", "Iris hypopigmentation", "Iron accumulation in brain", "Iron accumulation in globus pallidus", "Iron deficiency anemia", "Irregular acetabular roof", "Irregular capital femoral epiphysis", "Irregular epiphyses", "Irregular femoral epiphysis", "Irregular hyperpigmentation", "Irregular iliac crest", "Irregular menstruation", "Irregular vertebral endplates", "Irritability", "Ischemic stroke", "J shaped sella turcica", "Jaundice", "Jerky head movements", "Joint contracture of the hand", "Joint contractures involving the joints of the feet", "Joint dislocation", "Joint hemorrhage", "Joint hyperflexibility", "Joint hypermobility", "Joint laxity", "Joint stiffness", "Joint subluxation", "Joint swelling", "Juvenile aseptic necrosis", "Juvenile cataract", "Juvenile myelomonocytic leukemia", "Juvenile onset", "Juvenile rheumatoid arthritis", "Keloids", "Keratitis", "Keratoconjunctivitis", "Keratosis pilaris", "Ketoacidosis", "Ketonuria", "Ketosis", "Ketotic hypoglycemia", "Kinetic tremor", "Kinked brainstem", "Knee clonus", "Knee dislocation", "Knee flexion contracture", "Kyphoscoliosis", "Kyphosis", "Labial hypertrophy", "Lack of insight", "Lack of peer relationships", "Lack of skin elasticity", "Lack of t cell function", "Lacrimal duct aplasia", "Lacrimal duct atresia", "Lacrimal duct stenosis", "Lacrimation abnormality", "Lactic acidosis", "Lacticaciduria", "Lactose intolerance", "Lagopthalmos", "Lambdoidal craniosynostosis", "Language impairment", "Large basal ganglia", "Large beaked nose", "Large earlobe", "Large face", "Large fleshy ears", "Large for gestational age", "Large foramen magnum", "Large forehead", "Large hands", "Large iliac wing", "Large intestinal polyposis", "Large placenta", "Large sella turcica", "Laryngeal cleft", "Laryngeal dystonia", "Laryngeal hypoplasia", "Laryngeal stenosis", "Laryngeal stridor", "Laryngomalacia", "Laryngotracheomalacia", "Late onset", "Lateral clavicle hook", "Leber optic atrophy", "Left atrial enlargement", "Left bundle branch block", "Left to right shunt", "Left ventricular hypertrophy", "Left ventricular noncompaction cardiomyopathy", "Left ventricular outflow tract obstruction", "Left ventricular systolic dysfunction", "Leg muscle stiffness", "Leiomyosarcoma", "Lens subluxation", "Lenticonus", "Lethal skeletal dysplasia", "Lethargy", "Leukemia", "Leukocytosis", "Leukodystrophy", "Leukoencephalopathy", "Leukonychia", "Leukopenia", "Lewy bodies", "Leydig cell neoplasia", "Lichenification", "Limb ataxia", "Limb dysmetria", "Limb dystonia", "Limb fasciculations", "Limb girdle muscle atrophy", "Limb girdle muscle weakness", "Limb girdle muscular dystrophy", "Limb hypertonia", "Limb joint contracture", "Limb muscle weakness", "Limb myoclonus", "Limb pain", "Limb tremor", "Limb undergrowth", "Limbal dermoid", "Limitation of joint mobility", "Limitation of knee mobility", "Limitation of movement at ankles", "Limitation of neck motion", "Limited elbow extension", "Limited elbow movement", "Limited extraocular movements", "Limited hip movement", "Limited knee extension", "Limited wrist extension", "Limited wrist movement", "Lipid accumulation in hepatocytes", "Lipoatrophy", "Lipodystrophy", "Lipoma", "Lissencephaly", "Liver abscess", "Lobar holoprosencephaly", "Lobulated tongue", "Localized hirsutism", "Localized osteoporosis", "Localized skin lesion", "Long clavicles", "Long ear", "Long eyelashes", "Long fingers", "Long foot", "Long hallux", "Long neck", "Long nose", "Long palm", "Long palpebral fissure", "Long penis", "Long philtrum", "Long thorax", "Long toe", "Long tract signs", "Long upper lip", "Lop ear", "Loss of ability to walk", "Loss of consciousness", "Loss of eyelashes", "Loss of purkinje cells in the cerebellar vermis", "Loss of speech", "Loss of subcutaneous adipose tissue in limbs", "Loss of voice", "Low alkaline phosphatase", "Low anterior hairline", "Low apgar score", "Low back pain", "Low frustration tolerance", "Low grade fever", "Low hanging columella", "Low levels of vitamin d", "Low molecular weight proteinuria", "Low plasma citrulline", "Low posterior hairline", "Low self esteem", "Low set nipples", "Low set posteriorly rotated ears", "Lower extremity joint dislocation", "Lower eyelid coloboma", "Lower limb amyotrophy", "Lower limb asymmetry", "Lower limb hyperreflexia", "Lower limb hypertonia", "Lower limb metaphyseal irregularity", "Lower limb muscle weakness", "Lower limb pain", "Lower limb spasticity", "Lower limb undergrowth", "Lumbar hyperlordosis", "Lumbar kyphosis", "Lumbar scoliosis", "Lung adenocarcinoma", "Lymphangiectasis", "Lymphangioma", "Lymphedema", "Lymphocytosis", "Lymphoma", "Lymphopenia", "Lymphoproliferative disorder", "Macrocephaly at birth", "Macrocytic anemia", "Macrodactyly", "Macrodontia", "Macrodontia of permanent maxillary central incisor", "Macroglossia", "Macrogyria", "Macroorchidism", "Macroscopic hematuria", "Macrotia", "Macrovesicular hepatic steatosis", "Macular atrophy", "Macular coloboma", "Macular degeneration", "Macular dystrophy", "Macular hyperpigmentation", "Macular hypoplasia", "Macular purpura", "Macular thickening", "Macule", "Malabsorption", "Malar prominence", "Male hypogonadism", "Male infertility", "Male pseudohermaphroditism", "Male reproductive system neoplasm", "Male sexual dysfunction", "Malignant genitourinary tract tumor", "Malignant hyperthermia", "Malignant neoplasm of the central nervous system", "Malnutrition", "Malrotation of small bowel", "Mandibular aplasia", "Mandibular prognathia", "Mania", "Mask like facies", "Mastoiditis", "Maternal diabetes", "Maternal hypertension", "Maturity onset diabetes of the young", "Meconium stained amniotic fluid", "Medial flaring of the eyebrow", "Median cleft lip", "Median cleft palate", "Mediastinal lymphadenopathy", "Medullary nephrocalcinosis", "Medulloblastoma", "Megalencephaly", "Megaloblastic anemia", "Megalocornea", "Melanocytic nevus", "Melanoma", "Melena", "Membranoproliferative glomerulonephritis", "Memory impairment", "Meningioma", "Meningitis", "Meningocele", "Meningoencephalocele", "Menorrhagia", "Mental deterioration", "Mesoaxial hand polydactyly", "Mesoaxial polydactyly", "Mesomelia", "Metabolic acidosis", "Metabolic alkalosis", "Metacarpophalangeal joint contracture", "Metamorphopsia", "Metaphyseal chondrodysplasia", "Metaphyseal cupping", "Metaphyseal dysplasia", "Metaphyseal irregularity", "Metaphyseal sclerosis", "Metaphyseal spurs", "Metaphyseal striations", "Metaphyseal widening", "Metatarsal synostosis", "Metatarsus adductus", "Metatarsus valgus", "Methemoglobinemia", "Methylmalonic acidemia", "Methylmalonic aciduria", "Metopic synostosis", "Metrorrhagia", "Microangiopathic hemolytic anemia", "Microcornea", "Microcytic anemia", "Microdontia", "Microglossia", "Micrographia", "Micromelia", "Micronodular cirrhosis", "Micropenis", "Microphallus", "Microretrognathia", "Microscopic hematuria", "Microtia third degree", "Microvesicular hepatic steatosis", "Middle age onset", "Midface retrusion", "Midline defect of the nose", "Migraine", "Mild global developmental delay", "Mild hearing impairment", "Mild microcephaly", "Mild postnatal growth retardation", "Mild short stature", "Mildly elevated creatine kinase", "Milia", "Minicore myopathy", "Minimal change glomerulonephritis", "Miosis", "Misalignment of incisors", "Missing ribs", "Mitochondrial inheritance", "Mitochondrial myopathy", "Mitochondrial respiratory chain defects", "Mitral stenosis", "Mitral valve calcification", "Mitral valve prolapse", "Mitten deformity", "Mixed demyelinating and axonal polyneuropathy", "Mixed hearing impairment", "Mixed hypo and hyperpigmentation of the skin", "Moderate albuminuria", "Moderate global developmental delay", "Moderate sensorineural hearing impairment", "Moderately reduced visual acuity", "Molar tooth sign on mri", "Molluscoid pseudotumors", "Molluscum contagiosum", "Monocytosis", "Monotonic speech", "Mood swings", "Morning glory anomaly", "Morning myoclonic jerks", "Morphological abnormality of the corticospinal tract", "Morphological abnormality of the middle ear", "Morphological abnormality of the pyramidal tract", "Morphological abnormality of the vestibule of the inner ear", "Mortality aging", "Motor axonal neuropathy", "Motor delay", "Motor deterioration", "Motor neuron atrophy", "Motor polyneuropathy", "Motor regression", "Motor seizure", "Mottled pigmentation", "Movement abnormality of the tongue", "Moyamoya phenomenon", "Mucosal telangiectasiae", "Multicystic kidney dysplasia", "Multifactorial inheritance", "Multifocal cerebral white matter abnormalities", "Multifocal epileptiform discharges", "Multifocal seizures", "Multiple cafe au lait spots", "Multiple enchondromatosis", "Multiple exostoses", "Multiple gastric polyps", "Multiple glomerular cysts", "Multiple impacted teeth", "Multiple joint contractures", "Multiple joint dislocation", "Multiple lentigines", "Multiple lipomas", "Multiple mitochondrial dna deletions", "Multiple myeloma", "Multiple prenatal fractures", "Multiple renal cysts", "Multiple rib fractures", "Multiple rows of eyelashes", "Multiple suture craniosynostosis", "Muscle abnormality related to mitochondrial dysfunction", "Muscle fiber atrophy", "Muscle fiber inclusion bodies", "Muscle fiber necrosis", "Muscle fiber splitting", "Muscle fiber tubular inclusions", "Muscle fibrillation", "Muscle flaccidity", "Muscle hypertrophy of the lower extremities", "Muscle spasm", "Muscle stiffness", "Muscle weakness", "Muscular dystrophy", "Muscular hypotonia of the trunk", "Muscular ventricular septal defect", "Mutism", "Myalgia", "Mydriasis", "Myelodysplasia", "Myelofibrosis", "Myeloid leukemia", "Myelomeningocele", "Myelopathy", "Myeloproliferative disorder", "Myocardial fibrosis", "Myoclonic absence seizure", "Myoclonic seizure", "Myoclonic spasms", "Myoclonus", "Myofibrillar myopathy", "Myoglobinuria", "Myokymia", "Myopathic facies", "Myopathy", "Myopia", "Myositis", "Myotonia", "Naevus flammeus of the eyelid", "Nail dysplasia", "Nail dystrophy", "Nail pits", "Narrow face", "Narrow foot", "Narrow foramen obturatorium", "Narrow forehead", "Narrow iliac wing", "Narrow internal auditory canal", "Narrow jaw", "Narrow mouth", "Narrow nasal bridge", "Narrow nasal ridge", "Narrow nose", "Narrow palate", "Narrow palm", "Narrow palpebral fissure", "Narrow pelvis bone", "Narrow vertebral interpedicular distance", "Nasal congestion", "Nasal regurgitation", "Nasal speech", "Nasogastric tube feeding", "Nasogastric tube feeding in infancy", "Nasolacrimal duct obstruction", "Natal tooth", "Nausea", "Nausea and vomiting", "Neck flexor weakness", "Neck muscle weakness", "Negativism", "Nemaline bodies", "Neonatal alloimmune thrombocytopenia", "Neonatal asphyxia", "Neonatal breathing dysregulation", "Neonatal death", "Neonatal hyperbilirubinemia", "Neonatal hypoglycemia", "Neonatal hypotonia", "Neonatal insulin dependent diabetes mellitus", "Neonatal onset", "Neonatal respiratory distress", "Neoplasm", "Neoplasm by histology", "Neoplasm of fatty tissue", "Neoplasm of head and neck", "Neoplasm of striated muscle", "Neoplasm of the adrenal cortex", "Neoplasm of the adrenal gland", "Neoplasm of the breast", "Neoplasm of the colon", "Neoplasm of the ear", "Neoplasm of the endocrine system", "Neoplasm of the eye", "Neoplasm of the gallbladder", "Neoplasm of the gastrointestinal tract", "Neoplasm of the genitourinary tract", "Neoplasm of the heart", "Neoplasm of the inner ear", "Neoplasm of the large intestine", "Neoplasm of the larynx", "Neoplasm of the liver", "Neoplasm of the male external genitalia", "Neoplasm of the middle ear", "Neoplasm of the nervous system", "Neoplasm of the oral cavity", "Neoplasm of the pancreas", "Neoplasm of the parathyroid gland", "Neoplasm of the peripheral nervous system", "Neoplasm of the pituitary gland", "Neoplasm of the rectum", "Neoplasm of the respiratory system", "Neoplasm of the skeletal system", "Neoplasm of the skin", "Neoplasm of the small intestine", "Neoplasm of the stomach", "Neoplasm of the thymus", "Neoplasm of the thyroid gland", "Neoplasm of the tongue", "Neoplasm of the tracheobronchial system", "Nephritis", "Nephrocalcinosis", "Nephrogenic diabetes insipidus", "Nephrolithiasis", "Nephronophthisis", "Nephropathy", "Nephrotic syndrome", "Neuralgia", "Neurodegeneration", "Neuroendocrine neoplasm", "Neurofibrillary tangles", "Neurofibromas", "Neurogenic bladder", "Neuroinflammation", "Neuroma", "Neuromuscular dysphagia", "Neuronal loss in basal ganglia", "Neuronal loss in central nervous system", "Neuronal loss in the cerebral cortex", "Neuropathic arthropathy", "Neutropenia in presence of anti neutropil antibodies", "Neutrophilia", "Nevus", "Night sweats", "No social interaction", "Nocturia", "Nocturnal hypoventilation", "Nocturnal seizures", "Nodular goiter", "Non hodgkin lymphoma", "Non medullary thyroid carcinoma", "Non midline cleft lip", "Non midline cleft palate", "Non motor seizure", "Non obstructive azoospermia", "Noncommunicating hydrocephalus", "Noncompaction cardiomyopathy", "Nonimmune hydrops fetalis", "Nonketotic hypoglycemia", "Nonprogressive", "Nonprogressive cerebellar ataxia", "Nonprogressive encephalopathy", "Nonspherocytic hemolytic anemia", "Normochromic anemia", "Normocytic anemia", "Nuchal rigidity", "Nuclear cataract", "Numerous nevi", "Numerous pigmented freckles", "Nyctalopia", "Nystagmus induced head nodding", "Obsessive compulsive behavior", "Obsessive compulsive trait", "Obstructive sleep apnea", "Occipital cortical atrophy", "Occipital encephalocele", "Occipital meningocele", "Ocular albinism", "Ocular anterior segment dysgenesis", "Ocular pain", "Oculogyric crisis", "Oculomotor apraxia", "Oculomotor nerve palsy", "Odontogenic neoplasm", "Oligoarthritis", "Oligodactyly", "Oligodontia", "Oligohydramnios", "Oligomenorrhea", "Oligosacchariduria", "Oligospermia", "Oliguria", "Olivopontocerebellar atrophy", "Olivopontocerebellar hypoplasia", "Omphalocele", "Onion bulb formation", "Onset", "Onychogryposis", "Onychogryposis of toenails", "Onycholysis", "Onychomycosis", "Open angle glaucoma", "Open bite", "Open mouth", "Open operculum", "Ophthalmoparesis", "Opisthotonus", "Opportunistic infection", "Opsoclonus", "Optic atrophy", "Optic disc coloboma", "Optic disc hypoplasia", "Optic disc pallor", "Optic nerve compression", "Optic nerve dysplasia", "Optic nerve hypoplasia", "Optic neuropathy", "Oral aversion", "Oral cavity bleeding", "Oral cleft", "Oral leukoplakia", "Oral mucosal blisters", "Oral pharyngeal dysphagia", "Oral ulcer", "Orchitis", "Organic aciduria", "Orofacial dyskinesia", "Oromandibular dystonia", "Oromotor apraxia", "Oroticaciduria", "Orthopnea", "Orthostatic hypotension", "Orthostatic hypotension due to autonomic dysfunction", "Osteoarthritis", "Osteochondroma", "Osteochondrosis", "Osteolysis", "Osteolysis involving bones of the feet", "Osteolysis involving bones of the upper limbs", "Osteolytic defects of the distal phalanges of the hand", "Osteomalacia", "Osteomyelitis", "Osteopenia", "Osteopetrosis", "Osteoporosis", "Osteosarcoma", "Otitis media", "Otosclerosis", "Oval face", "Ovarian carcinoma", "Ovarian cyst", "Ovarian gonadoblastoma", "Ovarian neoplasm", "Ovarian papillary adenocarcinoma", "Overfolding of the superior helices", "Overfriendliness", "Overgrowth", "Overhanging nasal tip", "Overlapping fingers", "Overlapping toe", "Overriding aorta", "Overtubulated long bones", "Overweight", "Ovoid vertebral bodies", "Ovotestis", "Pace of progression", "Pain", "Pain in head and neck region", "Pain insensitivity", "Painless fractures due to injury", "Pallor", "Palmar hyperhidrosis", "Palmar pits", "Palmar telangiectasia", "Palmoplantar blistering", "Palmoplantar cutis laxa", "Palmoplantar hyperhidrosis", "Palpebral edema", "Palpitations", "Pancreatic adenocarcinoma", "Pancreatic cysts", "Pancreatic endocrine tumor", "Pancreatic fibrosis", "Pancreatic hypoplasia", "Pancreatic islet cell hyperplasia", "Pancreatitis", "Pancytopenia", "Panhypogammaglobulinemia", "Panhypopituitarism", "Panniculitis", "Papillary renal cell carcinoma", "Papillary thyroid carcinoma", "Papilledema", "Papilloma", "Papule", "Paracentral scotoma", "Paraganglioma", "Parakeratosis", "Paralysis", "Paranoia", "Paraparesis", "Paraplegia", "Paraplegia paraparesis", "Parasomnia", "Parathyroid adenoma", "Parathyroid carcinoma", "Parathyroid hyperplasia", "Paresthesia", "Parietal bossing", "Parietal cortical atrophy", "Parietal foramina", "Parkinsonism", "Parkinsonism with favorable response to dopaminergic medication", "Paronychia", "Paroxysmal bursts of laughter", "Paroxysmal dyskinesia", "Paroxysmal dystonia", "Paroxysmal involuntary eye movements", "Paroxysmal ventricular tachycardia", "Partial absence of thumb", "Partial agenesis of the corpus callosum", "Partial albinism", "Partial anomalous pulmonary venous return", "Partial duplication of the distal phalanges of the hand", "Partial duplication of the phalanx of hand", "Patchy alopecia", "Patchy changes of bone mineral density", "Patchy hypopigmentation of hair", "Patchy palmoplantar hyperkeratosis", "Patellar aplasia", "Patellar dislocation", "Patellar hypoplasia", "Patellar subluxation", "Patent ductus arteriosus", "Patent foramen ovale", "Pathologic fracture", "Pectus carinatum", "Pectus excavatum", "Pectus excavatum of inferior sternum", "Pedal edema", "Pediatric onset", "Pelvic girdle muscle weakness", "Pelvic kidney", "Pendular nystagmus", "Penetrating foot ulcers", "Peptic ulcer", "Perianal abscess", "Periauricular skin pits", "Pericardial effusion", "Pericarditis", "Perifoveal ring of hyperautofluorescence", "Perimembranous ventricular septal defect", "Periodic paralysis", "Periodontitis", "Periorbital edema", "Periorbital fullness", "Peripheral arterial stenosis", "Peripheral axonal degeneration", "Peripheral axonal neuropathy", "Peripheral cyanosis", "Peripheral demyelination", "Peripheral edema", "Peripheral hypermyelination", "Peripheral hypomyelination", "Peripheral neuropathy", "Peripheral opacification of the cornea", "Peripheral pulmonary artery stenosis", "Peripheral retinal avascularization", "Peripheral visual field loss", "Periportal fibrosis", "Perisylvian polymicrogyria", "Peritoneal abscess", "Peritonitis", "Periventricular cysts", "Periventricular heterotopia", "Periventricular leukomalacia", "Periventricular nodular heterotopia", "Periventricular white matter hyperintensities", "Peroneal muscle atrophy", "Perseveration", "Persistence of hemoglobin f", "Persistence of primary teeth", "Persistent ebv viremia", "Persistent head lag", "Personality changes", "Pes cavus", "Pes planus", "Pes valgus", "Petechiae", "Peters anomaly", "Phalangeal dislocation", "Pharyngitis", "Phenotypic variability", "Pheochromocytoma", "Phimosis", "Phocomelia", "Phonophobia", "Photophobia", "Photopsia", "Photoreceptor layer loss on macular oct", "Photosensitive tonic clonic seizure", "Phthisis bulbi", "Physical urticaria", "Pierre robin sequence", "Pigmentary retinopathy", "Pili canaliculi", "Pili torti", "Pilomatrixoma", "Pineal cyst", "Pituitary adenoma", "Pituitary growth hormone cell adenoma", "Pituitary hypothyroidism", "Pituitary prolactin cell adenoma", "Placental abruption", "Plagiocephaly", "Plantar hyperkeratosis", "Platybasia", "Platyspondyly", "Pleural effusion", "Pleuritis", "Pneumonia", "Pneumothorax", "Poikilocytosis", "Poikiloderma", "Pointed chin", "Polar cataract", "Pollakisuria", "Polyarticular arthropathy", "Polyclonal elevation of igm", "Polycystic kidney dysplasia", "Polycystic liver disease", "Polycythemia", "Polydactyly", "Polygenic inheritance", "Polyhydramnios", "Polymicrogyria", "Polyneuropathy", "Polyphagia", "Polysplenia", "Polyuria", "Pontocerebellar atrophy", "Poor appetite", "Poor coordination", "Poor eye contact", "Poor fine motor coordination", "Poor gross motor coordination", "Poor head control", "Poor motor coordination", "Poor speech", "Poor suck", "Poor wound healing", "Popliteal pterygium", "Porencephalic cyst", "Porokeratosis", "Porphyrinuria", "Portal fibrosis", "Portal vein thrombosis", "Positional foot deformity", "Positive romberg sign", "Post partum hemorrhage", "Postaxial foot polydactyly", "Postaxial hand polydactyly", "Postaxial polydactyly", "Posterior blepharitis", "Posterior embryotoxon", "Posterior fossa cyst", "Posterior pharyngeal cleft", "Posterior pituitary dysgenesis", "Posterior polar cataract", "Posterior subcapsular cataract", "Posterior uveitis", "Posteriorly rotated ears", "Postexertional malaise", "Postnatal growth retardation", "Postural instability", "Postural tremor", "Potter facies", "Preauricular skin tag", "Preaxial foot polydactyly", "Preaxial hand polydactyly", "Preaxial polydactyly", "Precocious atherosclerosis", "Predominantly lower limb lymphedema", "Prelingual sensorineural hearing impairment", "Premature adrenarche", "Premature arteriosclerosis", "Premature birth", "Premature coronary artery atherosclerosis", "Premature graying of hair", "Premature loss of primary teeth", "Premature loss of teeth", "Premature osteoarthritis", "Premature ovarian insufficiency", "Premature rupture of membranes", "Premature skin wrinkling", "Premature thelarche", "Premature ventricular contraction", "Prematurely aged appearance", "Prenatal maternal abnormality", "Prenatal movement abnormality", "Primary adrenal insufficiency", "Primary amenorrhea", "Primary congenital glaucoma", "Primary gonadal insufficiency", "Primary hypercortisolism", "Primary hyperparathyroidism", "Primary microcephaly", "Primary peritoneal carcinoma", "Primitive neuroectodermal tumor", "Primitive reflex", "Productive cough", "Profound global developmental delay", "Profound hearing impairment", "Profound sensorineural hearing impairment", "Progeroid facial appearance", "Progressive", "Progressive cerebellar ataxia", "Progressive distal muscle weakness", "Progressive encephalopathy", "Progressive external ophthalmoplegia", "Progressive extrapyramidal movement disorder", "Progressive flexion contractures", "Progressive gait ataxia", "Progressive hearing impairment", "Progressive inability to walk", "Progressive leukoencephalopathy", "Progressive macrocephaly", "Progressive microcephaly", "Progressive muscle weakness", "Progressive neurologic deterioration", "Progressive night blindness", "Progressive peripheral neuropathy", "Progressive pes cavus", "Progressive proximal muscle weakness", "Progressive psychomotor deterioration", "Progressive pulmonary function impairment", "Progressive sensorineural hearing impairment", "Progressive spastic paraparesis", "Progressive spastic paraplegia", "Progressive spastic quadriplegia", "Progressive spasticity", "Progressive visual field defects", "Progressive visual loss", "Prolonged bleeding after dental extraction", "Prolonged bleeding after surgery", "Prolonged bleeding following circumcision", "Prolonged bleeding following procedure", "Prolonged bleeding time", "Prolonged neonatal jaundice", "Prolonged partial thromboplastin time", "Prolonged pr interval", "Prolonged qtc interval", "Prominent antihelix", "Prominent antitragus", "Prominent calcaneus", "Prominent coccyx", "Prominent crus of helix", "Prominent digit pad", "Prominent ear helix", "Prominent eyelashes", "Prominent forehead", "Prominent metopic ridge", "Prominent nasal bridge", "Prominent nasal tip", "Prominent nasolabial fold", "Prominent nose", "Prominent occiput", "Prominent sternum", "Prominent superficial blood vessels", "Prominent supraorbital ridges", "Prominent umbilicus", "Prominent veins on trunk", "Proportionate short stature", "Proportionate tall stature", "Proptosis", "Prostate neoplasm", "Protein avoidance", "Protein losing enteropathy", "Protruding ear", "Protruding tongue", "Protrusio acetabuli", "Protuberant abdomen", "Proximal amyotrophy", "Proximal femoral epiphysiolysis", "Proximal femoral metaphyseal abnormality", "Proximal femoral metaphyseal irregularity", "Proximal muscle weakness", "Proximal muscle weakness in lower limbs", "Proximal muscle weakness in upper limbs", "Proximal renal tubular acidosis", "Proximal symphalangism", "Proximal tubulopathy", "Proximal upper limb amyotrophy", "Pruritus", "Pseudoarthrosis", "Pseudobulbar paralysis", "Pseudobulbar signs", "Pseudoepiphyses", "Pseudoepiphyses of hand bones", "Pseudoepiphyses of the metacarpals", "Pseudohypoaldosteronism", "Pseudohypoparathyroidism", "Psoriasiform dermatitis", "Psychogenic non epileptic seizure", "Psychomotor deterioration", "Psychomotor retardation", "Psychosis", "Psychotic episodes", "Psychotic mentation", "Pterygium", "Ptosis", "Puberty and gonadal disorders", "Pulmonary artery atresia", "Pulmonary artery dilatation", "Pulmonary artery hypoplasia", "Pulmonary artery stenosis", "Pulmonary carcinoid tumor", "Pulmonary cyst", "Pulmonary edema", "Pulmonary embolism", "Pulmonary fibrosis", "Pulmonary hemorrhage", "Pulmonary hypoplasia", "Pulmonary infiltrates", "Pulmonary insufficiency", "Pulmonary interstitial high resolution computed tomography abnormality", "Pulmonary venous hypertension", "Pulmonic stenosis", "Pulverulent cataract", "Punctate cataract", "Pure red cell aplasia", "Purpura", "Pustule", "Pyelonephritis", "Pyoderma gangrenosum", "Pyridoxine responsive sideroblastic anemia", "Quadriceps muscle weakness", "Radial bowing", "Radial deviation of the 2nd finger", "Radial deviation of the hand", "Radial deviation of the hand or of fingers of the hand", "Radioulnar dislocation", "Radioulnar synostosis", "Ragged red muscle fibers", "Rapidly progressive", "Raynaud phenomenon", "Reactive hypoglycemia", "Receptive language delay", "Rectal abscess", "Rectal fistula", "Rectal prolapse", "Recurrent", "Recurrent abscess formation", "Recurrent acute respiratory tract infection", "Recurrent aspergillus infections", "Recurrent aspiration pneumonia", "Recurrent bacterial infections", "Recurrent bacterial skin infections", "Recurrent bronchitis", "Recurrent bronchopulmonary infections", "Recurrent corneal erosions", "Recurrent cutaneous abscess formation", "Recurrent ear infections", "Recurrent fever", "Recurrent fractures", "Recurrent gastroenteritis", "Recurrent hand flapping", "Recurrent herpes", "Recurrent hypoglycemia", "Recurrent infection of the gastrointestinal tract", "Recurrent lower respiratory tract infections", "Recurrent mycobacterial infections", "Recurrent opportunistic infections", "Recurrent otitis media", "Recurrent pancreatitis", "Recurrent paroxysmal headache", "Recurrent pharyngitis", "Recurrent pneumonia", "Recurrent respiratory infections", "Recurrent sinopulmonary infections", "Recurrent sinusitis", "Recurrent skin infections", "Recurrent staphylococcal infections", "Recurrent staphylococcus aureus infections", "Recurrent tonsillitis", "Recurrent upper and lower respiratory tract infections", "Recurrent urinary tract infections", "Recurrent viral infections", "Red eye", "Red green dyschromatopsia", "Red hair", "Reduced antigen specific t cell proliferation", "Reduced antithrombin iii activity", "Reduced brain n acetyl aspartate level by mrs", "Reduced c peptide level", "Reduced circulating prolactin concentration", "Reduced consciousness confusion", "Reduced delayed hypersensitivity", "Reduced factor viii activity", "Reduced factor xi activity", "Reduced factor xii activity", "Reduced factor xiii activity", "Reduced forced expiratory volume in one second", "Reduced forced vital capacity", "Reduced natural killer cell count", "Reduced pancreatic beta cells", "Reduced protein c activity", "Reduced protein s activity", "Reduced renal corticomedullary differentiation", "Reduced sperm motility", "Reduced subcutaneous adipose tissue", "Reduced systolic function", "Reduced tendon reflexes", "Reduced visual acuity", "Reduced vital capacity", "Reduction of neutrophil motility", "Redundant neck skin", "Redundant skin", "Reflex seizure", "Refractory anemia", "Regional abnormality of skin", "Relative macrocephaly", "Remnants of the hyaloid vascular system", "Renal agenesis", "Renal angiomyolipoma", "Renal cell carcinoma", "Renal cortical cysts", "Renal cortical microcysts", "Renal corticomedullary cysts", "Renal cyst", "Renal duplication", "Renal dysplasia", "Renal fanconi syndrome", "Renal fibrosis", "Renal hamartoma", "Renal hypoplasia", "Renal hypoplasia aplasia", "Renal insufficiency", "Renal magnesium wasting", "Renal malrotation", "Renal potassium wasting", "Renal salt wasting", "Renal steatosis", "Renal tubular acidosis", "Renal tubular atrophy", "Renal tubular dysfunction", "Renal tubular epithelial necrosis", "Renovascular hypertension", "Repetitive compulsive behavior", "Respiratory alkalosis", "Respiratory arrest", "Respiratory distress", "Respiratory failure", "Respiratory failure requiring assisted ventilation", "Respiratory insufficiency", "Respiratory insufficiency due to defective ciliary clearance", "Respiratory paralysis", "Respiratory tract infection", "Response to drugs acting on neuromuscular transmission", "Resting tremor", "Restless legs", "Restlessness", "Restrictive behavior", "Restrictive cardiomyopathy", "Restrictive ventilatory defect", "Reticular hyperpigmentation", "Reticulated skin pigmentation", "Reticulocytopenia", "Reticulocytosis", "Retinal arterial tortuosity", "Retinal arteriolar tortuosity", "Retinal atrophy", "Retinal coloboma", "Retinal degeneration", "Retinal detachment", "Retinal dysplasia", "Retinal dystrophy", "Retinal fold", "Retinal hamartoma", "Retinal hemorrhage", "Retinal neovascularization", "Retinal nonattachment", "Retinal perforation", "Retinal pigment epithelial atrophy", "Retinal pigment epithelial mottling", "Retinal telangiectasia", "Retinal thinning", "Retinal vascular tortuosity", "Retinopathy", "Retrocollis", "Retrognathia", "Rhabdomyolysis", "Rhabdomyosarcoma", "Rhegmatogenous retinal detachment", "Rheumatoid arthritis", "Rheumatoid factor positive", "Rhinitis", "Rhizomelia", "Rhizomelic arm shortening", "Rib fusion", "Rib segmentation abnormalities", "Rickets", "Ridged nail", "Rieger anomaly", "Right aortic arch with mirror image branching", "Right bundle branch block", "Right ventricular cardiomyopathy", "Right ventricular dilatation", "Right ventricular hypertrophy", "Rigidity", "Rimmed vacuoles", "Rod cone dystrophy", "Rotary nystagmus", "Round ear", "Round face", "Saccadic oscillation", "Saccadic smooth pursuit", "Sacrococcygeal teratoma", "Sagittal craniosynostosis", "Sandal gap", "Sarcoma", "Scaling skin", "Scanning speech", "Scaphocephaly", "Scapular winging", "Scarring", "Scarring alopecia of scalp", "Schistocytosis", "Schizencephaly", "Schizophrenia", "Schwannoma", "Scleral staphyloma", "Sclerocornea", "Scleroderma", "Sclerosis of hand bone", "Sclerosis of skull base", "Sclerotic vertebral endplates", "Scotoma", "Scrotal hypoplasia", "Sea blue histiocytosis", "Seborrheic dermatitis", "Second degree atrioventricular block", "Secondary amenorrhea", "Secondary growth hormone deficiency", "Secondary microcephaly", "Secretory diarrhea", "Secundum atrial septal defect", "Segmental peripheral demyelination remyelination", "Selective tooth agenesis", "Self injurious behavior", "Self mutilation", "Semilobar holoprosencephaly", "Senile plaques", "Sensorimotor neuropathy", "Sensory ataxia", "Sensory axonal neuropathy", "Sensory neuropathy", "Sepsis", "Septate vagina", "Septic arthritis", "Septo optic dysplasia", "Serositis", "Severe combined immunodeficiency", "Severe cytomegalovirus infection", "Severe demyelination of the white matter", "Severe expressive language delay", "Severe failure to thrive", "Severe global developmental delay", "Severe hearing impairment", "Severe infection", "Severe intrauterine growth retardation", "Severe lactic acidosis", "Severe muscular hypotonia", "Severe photosensitivity", "Severe postnatal growth retardation", "Severe short limb dwarfism", "Severe short stature", "Severe varicella zoster infection", "Severe viral infection", "Severely reduced visual acuity", "Shagreen patch", "Shallow acetabular fossae", "Shallow anterior chamber", "Shallow orbits", "Shawl scrotum", "Shield chest", "Shock", "Short 1st metacarpal", "Short attention span", "Short chin", "Short clavicles", "Short columella", "Short digit", "Short face", "Short femur", "Short foot", "Short fourth metatarsal", "Short lingual frenulum", "Short long bone", "Short lower limbs", "Short middle phalanx of finger", "Short nail", "Short nose", "Short palm", "Short palpebral fissure", "Short phalanx of the thumb", "Short philtrum", "Short proximal phalanx of finger", "Short ribs", "Short stepped shuffling gait", "Short sternum", "Short thorax", "Short thumb", "Short tibia", "Short umbilical cord", "Short upper lip", "Shortened pr interval", "Shortened qt interval", "Shortening of all distal phalanges of the fingers", "Shortening of all middle phalanges of the fingers", "Shortening of all phalanges of the toes", "Shoulder dislocation", "Shoulder girdle muscle atrophy", "Shoulder girdle muscle weakness", "Shoulder pain", "Shuffling gait", "Shyness", "Sick sinus syndrome", "Sideroblastic anemia", "Simple ear", "Simple febrile seizure", "Simplified gyral pattern", "Single fiber emg abnormality", "Single naris", "Single transverse palmar crease", "Single ventricle", "Sinus bradycardia", "Sinus tachycardia", "Sirenomelia", "Skeletal dysplasia", "Skeletal muscle atrophy", "Skeletal muscle hypertrophy", "Skeletal myopathy", "Skin appendage neoplasm", "Skin dimple", "Skin erosion", "Skin nodule", "Skin picking", "Skin pit", "Skin plaque", "Skin rash", "Skin tags", "Skin ulcer", "Skin vesicle", "Skull asymmetry", "Slanting of the palpebral fissure", "Sleep apnea", "Sleep disturbance", "Sleep wake cycle disturbance", "Slender build", "Slender finger", "Slender long bone", "Slender toe", "Sloping forehead", "Slow decrease in visual acuity", "Slow pupillary light response", "Slow saccadic eye movements", "Slowed slurred speech", "Slowly progressive", "Slurred speech", "Small anterior fontanelle", "Small basal ganglia", "Small cerebral cortex", "Small earlobe", "Small epiphyses", "Small face", "Small for gestational age", "Small hand", "Small intestinal dysmotility", "Small nail", "Small pituitary gland", "Small placenta", "Smooth muscle antibody positivity", "Smooth philtrum", "Snoring", "Social and occupational deterioration", "Soft doughy skin", "Soft skin", "Soft tissue neoplasm", "Soft tissue sarcoma", "Solitary median maxillary central incisor", "Somatic mosaicism", "Somatic mutation", "Somatic sensory dysfunction", "Sound sensitivity", "Sparse and thin eyebrow", "Sparse body hair", "Sparse eyebrow", "Sparse eyelashes", "Sparse hair", "Sparse lateral eyebrow", "Sparse or absent eyelashes", "Sparse scalp hair", "Spastic ataxia", "Spastic diplegia", "Spastic dysarthria", "Spastic gait", "Spastic hyperactive bladder", "Spastic paraparesis", "Spastic paraparetic gait", "Spastic paraplegia", "Spastic tetraparesis", "Spastic tetraplegia", "Spasticity", "Specific learning disability", "Speech apraxia", "Speech articulation difficulties", "Spider hemangioma", "Spina bifida", "Spina bifida occulta", "Spinal canal stenosis", "Spinal cord compression", "Spinal cord lesion", "Spinal cord tumor", "Spinal deformities", "Spinal muscular atrophy", "Spinal rigidity", "Spinocerebellar tract degeneration", "Splanchnic vein thrombosis", "Splenomegaly", "Split nail", "Spoken word recognition deficit", "Spondyloepimetaphyseal dysplasia", "Spondyloepiphyseal dysplasia", "Spondylolisthesis", "Spondylolysis", "Spontaneous abortion", "Spontaneous hematomas", "Spontaneous hemolytic crises", "Spontaneous recurrent epistaxis", "Sporadic", "Spotty hyperpigmentation", "Sprengel anomaly", "Squamous cell carcinoma", "Squamous cell carcinoma of the skin", "Square face", "Squared iliac bones", "St segment elevation", "Stage 5 chronic kidney disease", "Staring gaze", "Status epilepticus", "Status epilepticus with prominent motor symptoms", "Stenosis of the external auditory canal", "Steppage gait", "Stereotypical hand wringing", "Stereotypy", "Steroid resistant nephrotic syndrome", "Stiff skin", "Stillbirth", "Stomach cancer", "Stomatitis", "Stomatocytosis", "Stooped posture", "Streak ovary", "Striae distensae", "Stridor", "Stroke", "Stroke like episode", "Stuttering", "Subacute progressive viral hepatitis", "Subarachnoid hemorrhage", "Subcapsular cataract", "Subcortical band heterotopia", "Subcortical cerebral atrophy", "Subcortical heterotopia", "Subcutaneous hemorrhage", "Subcutaneous lipoma", "Subcutaneous nodule", "Subdural hemorrhage", "Subependymal cysts", "Subglottic stenosis", "Submucous cleft of soft and hard palate", "Submucous cleft soft palate", "Subretinal fluid", "Subsarcolemmal accumulations of abnormally shaped mitochondria", "Substantia nigra gliosis", "Subvalvular aortic stenosis", "Sudden death", "Sudden episodic apnea", "Sudden loss of visual acuity", "Suicidal ideation", "Sunken cheeks", "Supernumerary bones of the axial skeleton", "Supernumerary nipple", "Supernumerary spleens", "Supernumerary tooth", "Supranuclear gaze palsy", "Supranuclear ophthalmoplegia", "Supravalvular aortic stenosis", "Supraventricular arrhythmia", "Supraventricular tachycardia", "Swan neck like deformities of the fingers", "Symphalangism affecting the phalanges of the hand", "Symphalangism of middle phalanx of finger", "Symptomatic seizures", "Syncope", "Syndactyly", "Synostosis involving bones of the hand", "Synostosis involving bones of the lower limbs", "Synostosis involving bones of the upper limbs", "Synostosis involving digits", "Synostosis of carpal bones", "Synostosis of carpals tarsals", "Synostosis of joints", "Synostosis of metacarpals metatarsals", "Synovitis", "Syringomyelia", "Systemic lupus erythematosus", "T cell lymphoma", "T lymphocytopenia", "Tachycardia", "Tachypnea", "Talipes calcaneovalgus", "Talipes equinovalgus", "Talipes equinovarus", "Talipes valgus", "Tall chin", "Tall stature", "Tapered distal phalanges of finger", "Tapered finger", "Tarsal synostosis", "Telangiectasia", "Telangiectasia of the skin", "Telecanthus", "Temperature instability", "Temporal cortical atrophy", "Temporal optic disc pallor", "Temporal pattern", "Tendon xanthomatosis", "Tented upper lip vermilion", "Teratoma", "Testicular adrenal rest tumor", "Testicular atrophy", "Testicular dysgenesis", "Tetany", "Tetralogy of fallot", "Tetraparesis", "Tetraplegia", "Tetraplegia tetraparesis", "Thenar muscle atrophy", "Thick cerebral cortex", "Thick corpus callosum", "Thick eyebrow", "Thick hair", "Thick lower lip vermilion", "Thick nasal alae", "Thick upper lip vermilion", "Thick vermilion border", "Thickened calvaria", "Thickened cortex of long bones", "Thickened ears", "Thickened helices", "Thickened nuchal skin fold", "Thickened ribs", "Thickened skin", "Thin bony cortex", "Thin clavicles", "Thin eyebrow", "Thin lower lip vermilion", "Thin nail", "Thin ribs", "Thin skin", "Thin upper lip vermilion", "Thin vermilion border", "Thinning of descemet membrane", "Third degree atrioventricular block", "Thoracic aortic aneurysm", "Thoracic hypoplasia", "Thoracic kyphoscoliosis", "Thoracic kyphosis", "Thoracic scoliosis", "Thoracolumbar kyphoscoliosis", "Thoracolumbar kyphosis", "Thoracolumbar scoliosis", "Thrombocytosis", "Thromboembolism", "Thrombophlebitis", "Thymus hyperplasia", "Thyroid adenoma", "Thyroid carcinoma", "Thyroiditis", "Tibial bowing", "Tibial torsion", "Tics", "Tiger tail banding", "Tinnitus", "Tip toe gait", "Tissue ischemia", "Titubation", "Toe clinodactyly", "Toe syndactyly", "Toe walking", "Toenail dysplasia", "Tongue atrophy", "Tongue fasciculations", "Tongue nodules", "Tongue thrusting", "Tonic seizure", "Tooth malposition", "Torsade de pointes", "Torsion dystonia", "Total anomalous pulmonary venous return", "Toxemia of pregnancy", "Tracheal stenosis", "Tracheobronchomalacia", "Tracheoesophageal fistula", "Tracheomalacia", "Tractional retinal detachment", "Transient global amnesia", "Transient ischemic attack", "Transient neutropenia", "Transposition of the great arteries", "Tremor", "Tremor by anatomical site", "Triangular face", "Triangular mouth", "Triangular shaped phalanges of the hand", "Trichorrhexis nodosa", "Tricuspid atresia", "Tricuspid stenosis", "Tricuspid valve prolapse", "Trigonocephaly", "Triphalangeal thumb", "Trismus", "Tritanomaly", "Trophic changes related to pain", "True hermaphroditism", "Truncal ataxia", "Truncal obesity", "Truncal titubation", "Truncus arteriosus", "Tube feeding", "Tubulointerstitial nephritis", "Turricephaly", "Type 1 fibers relatively smaller than type 2 fibers", "Type 1 muscle fiber atrophy", "Type 2 muscle fiber atrophy", "Type 2 muscle fiber predominance", "Type i diabetes mellitus", "Type i transferrin isoform profile", "Type ii diabetes mellitus", "Type ii lissencephaly", "Type ii transferrin isoform profile", "Typical absence seizure", "U shaped upper lip vermilion", "Ulcerative colitis", "Ulnar bowing", "Ulnar claw", "Ulnar deviation of finger", "Ulnar deviation of the 2nd finger", "Ulnar deviation of the hand", "Ulnar deviation of the hand or of fingers of the hand", "Ulnar deviation of the wrist", "Uncombable hair", "Unconjugated hyperbilirubinemia", "Uncontrolled eye movements", "Underdeveloped nasal alae", "Underdeveloped supraorbital ridges", "Underdeveloped tragus", "Undetectable electroretinogram", "Undetectable light and dark adapted electroretinogram", "Undetectable visual evoked potentials", "Unexplained fevers", "Unilateral primary pulmonary dysgenesis", "Unilateral ptosis", "Unilateral renal agenesis", "Unsteady gait", "Unusual fungal infection", "Unusual infection", "Unusual infection by anatomical site", "Unusual skin infection", "Upgaze palsy", "Uplifted earlobe", "Upper airway obstruction", "Upper extremity joint dislocation", "Upper eyelid coloboma", "Upper limb amyotrophy", "Upper limb asymmetry", "Upper limb hypertonia", "Upper limb muscle weakness", "Upper limb postural tremor", "Upper limb spasticity", "Upper limb undergrowth", "Upper motor neuron dysfunction", "Upslanted palpebral fissure", "Ureteral duplication", "Ureteral obstruction", "Ureteral stenosis", "Ureterocele", "Ureteropelvic junction obstruction", "Urethral atresia", "Urethral obstruction", "Urethral stenosis", "Urethral stricture", "Urethral valve", "Uric acid nephrolithiasis", "Urinary bladder sphincter dysfunction", "Urinary glycosaminoglycan excretion", "Urinary incontinence", "Urinary retention", "Urinary tract neoplasm", "Urinary urgency", "Urogenital fistula", "Urogenital sinus anomaly", "Urticaria", "Uterine prolapse", "Uterus didelphys", "Uveal melanoma", "Uveitis", "Vacuolated lymphocytes", "Vaginal atresia", "Vaginal fistula", "Vaginal neoplasm", "Variable expressivity", "Varicose veins", "Vascular calcification", "Vascular dilatation", "Vascular neoplasm", "Vascular skin abnormality", "Vascular tortuosity", "Vasculitis", "Vegetative state", "Vein of galen aneurysmal malformation", "Velopharyngeal insufficiency", "Venous insufficiency", "Venous malformation", "Venous thrombosis", "Ventricular arrhythmia", "Ventricular escape rhythm", "Ventricular fibrillation", "Ventricular hypertrophy", "Ventricular preexcitation", "Ventricular septal hypertrophy", "Ventricular tachycardia", "Ventriculomegaly", "Verrucae", "Vertebral arch anomaly", "Vertebral clefting", "Vertebral compression fracture", "Vertebral fusion", "Vertebral hypoplasia", "Vertebral segmentation defect", "Vertebral wedging", "Vertical nystagmus", "Vertical supranuclear gaze palsy", "Vertigo", "Very long chain fatty acid accumulation", "Vestibular dysfunction", "Viral encephalitis", "Viral hepatitis", "Viral infection induced rhabdomyolysis", "Visceral angiomatosis", "Visual acuity test abnormality", "Visual agnosia", "Visual field defect", "Visual fixation instability", "Visual hallucinations", "Visual impairment", "Visual loss", "Vitamin b12 deficiency", "Vitiligo", "Vitreoretinopathy", "Vitreous floaters", "Vitreous hemorrhage", "Vitritis", "Vocal cord paralysis", "Vocal cord paresis", "Volvulus", "Vomiting", "Waddling gait", "Weak cry", "Weak voice", "Weakness due to upper motor neuron dysfunction", "Weakness of facial musculature", "Weakness of long finger extensor muscles", "Weakness of muscles of respiration", "Weakness of the intrinsic hand muscles", "Webbed neck", "Weight loss", "Wheezing", "White forelock", "White hair", "Wide anterior fontanel", "Wide cranial sutures", "Wide intermamillary distance", "Wide mouth", "Wide nasal bridge", "Wide nasal ridge", "Wide nose", "Wide pubic symphysis", "Widely patent fontanelles and sutures", "Widely spaced incisors", "Widely spaced primary teeth", "Widely spaced teeth", "Widened cerebral subarachnoid space", "Widened subarachnoid space", "Widow s peak", "Woolly hair", "Wormian bones", "Wrist flexion contracture", "Writer s cramp", "X linked dominant inheritance", "X linked recessive inheritance", "Xanthelasma", "Xanthomatosis", "Xerostomia", "Y shaped metacarpals", "Yellow white lesions of the retina", "Young adult onset", "Zonular cataract"], "available_proteins": ["AAAS", "AARS", "AARS2", "AASS", "ABCB1", "ABCB7", "ABCD3", "ABCD4", "ABHD12", "ACACA", "ACAD9", "ACADM", "ACADSB", "ACAT1", "ACAT2", "ACBD5", "ACO2", "ACOX1", "ACP2", "ACSF3", "ACSL4", "ACTL6A", "ACTN1", "ACTN4", "ADAR", "ADD1", "ADD3", "ADH5", "ADK", "ADNP", "ADPRHL2", "ADSL", "AFG3L2", "AGK", "AGL", "AGPS", "AHCY", "AIFM1", "AIMP1", "AIMP2", "AK1", "AK2", "AKT1", "AKT2", "ALDH18A1", "ALDH2", "ALDH3A2", "ALDH5A1", "ALDH6A1", "ALDH7A1", "ALDOA", "ALG1", "ALG11", "ALG12", "ALG2", "ANAPC1", "ANK3", "ANKFY1", "ANKLE2", "ANKRD17", "ANLN", "ANO10", "ANO6", "ANXA11", "AP1B1", "AP2M1", "AP2S1", "AP3B1", "AP3D1", "APC", "APOB", "APOL2", "APP", "APRT", "ARCN1", "ARHGDIA", "ARHGEF1", "ARHGEF2", "ARID1A", "ARID2", "ARL2", "ARL3", "ARPC1B", "ARV1", "ASAH1", "ASNA1", "ASNS", "ASPH", "ATAD1", "ATAD3A", "ATG7", "ATIC", "ATL3", "ATP1A1", "ATP2A2", "ATP5A1", "ATP6AP1", "ATP6AP2", "ATP6V0A2", "ATP6V1A", "ATP6V1B2", "ATP6V1E1", "ATP7A", "ATXN10", "AURKA", "B3GALT6", "B4GAT1", "BAG3", "BANF1", "BAX", "BAZ1B", "BCAP31", "BCAT2", "BCL10", "BCOR", "BCS1L", "BLVRA", "BMS1", "BRAT1", "BRCA1", "BRD4", "BUB1B", "BUB3", "C19orf70", "C1QBP", "CAD", "CALD1", "CALM3", "CALR", "CAMK2G", "CANT1", "CAP2", "CAPN1", "CAPN5", "CARS", "CAST", "CBFB", "CBL", "CCDC22", "CCDC47", "CCT5", "CD2AP", "CD320", "CD3EAP", "CD46", "CDC40", "CDC42", "CDC45", "CDC73", "CDH2", "CDK13", "CDK4", "CDK5", "CELF2", "CEP290", "CEP55", "CERS1", "CFL2", "CHAMP1", "CHD1", "CHD3", "CHD4", "CHEK2", "CHMP1A", "CHMP2B", "CHORDC1", "CHUK", "CISD2", "CIZ1", "CLASP1", "CLCC1", "CLCN7", "CLIP1", "CLN5", "CLPB", "CLPP", "CLPX", "CLTC", "CNOT1", "CNP", "COA3", "COA7", "COG7", "COLEC12", "COLGALT1", "COMT", "COPA", "COPB1", "COPB2", "COX15", "COX2", "COX4I1", "COX5A", "CPE", "CPNE1", "CPOX", "CPSF1", "CPT2", "CRKL", "CRTAP", "CSNK2B", "CSTB", "CTBP1", "CTNNA1", "CTNNB1", "CTNND1", "CTPS1", "CTSA", "CTSB", "CTSC", "CUL3", "CUL4B", "CWF19L1", "CXorf56", "CYB5R3", "CYC1", "CYFIP2", "DARS", "DARS2", "DBT", "DCPS", "DCTN1", "DCTN4", "DCXR", "DDB1", "DDOST", "DDRGK1", "DDX3X", "DDX41", "DDX6", "DGCR8", "DHCR24", "DHCR7", "DHFR", "DHPS", "DHX16", "DHX30", "DHX37", "DHX38", "DIABLO", "DIAPH1", "DIAPH3", "DICER1", "DKC1", "DLAT", "DLD", "DLG3", "DLST", "DNA2", "DNAAF5", "DNAJC13", "DNAJC21", "DNAJC3", "DNM1L", "DNM2", "DNMT1", "DOCK7", "DPF2", "DPM1", "DPYSL5", "DSC2", "DSC3", "DSG2", "DSP", "DYM", "DYNC1H1", "DYNC1I2", "DYNLL1", "EARS2", "ECE1", "ECHS1", "EDC3", "EED", "EEF1A2", "EEF2", "EFL1", "EFTUD2", "EGFR", "EHMT1", "EIF2AK2", "EIF2B1", "EIF2B2", "EIF2B3", "EIF2B4", "EIF2B5", "EIF3F", "EIF4A3", "EIF4G1", "EIF4H", "EIF5A", "ELAC2", "ELMO2", "ELP1", "ELP2", "ELP4", "EMC1", "EMD", "EMG1", "EPB41", "EPHX2", "EPRS", "ERAL1", "ERAP1", "ERCC2", "ERCC3", "ERCC4", "ERGIC1", "ERLIN2", "ETFA", "ETFB", "ETFDH", "EWSR1", "EXOC2", "EXOC7", "EXOSC2", "EXOSC3", "EXOSC9", "EZR", "FAH", "FAM50A", "FANCD2", "FANCI", "FAR1", "FARSA", "FARSB", "FASN", "FDFT1", "FDPS", "FDXR", "FH", "FHL1", "FIP1L1", "FKBP10", "FKBP14", "FKRP", "FLAD1", "FLII", "FLNA", "FLNB", "FLNC", "FMR1", "FOXC1", "FOXRED1", "FREM2", "FRG1", "FSCN1", "FTO", "FTSJ1", "FUCA1", "FUS", "FXR1", "G6PD", "GAA", "GALK1", "GALM", "GALNT2", "GANAB", "GAPVD1", "GARS", "GATB", "GATC", "GBA", "GCDH", "GDAP1", "GDI1", "GEMIN4", "GEMIN5", "GFM1", "GFPT1", "GGCX", "GIGYF2", "GINS1", "GLA", "GLB1", "GLDC", "GLMN", "GLRX5", "GLS", "GLT8D1", "GLUD1", "GM2A", "GMPPA", "GMPPB", "GNAI2", "GNAI3", "GNPAT", "GNS", "GOT2", "GPAA1", "GPD1L", "GPD2", "GPHN", "GPI", "GPKOW", "GRHPR", "GSR", "GSS", "GSTM3", "GTF2I", "GUSB", "GYS1", "H2AFY", "HADH", "HADHA", "HADHB", "HCCS", "HCFC1", "HELLS", "HERC2", "HEXA", "HEXB", "HIBCH", "HIRA", "HIST1H1E", "HK1", "HLA-A", "HLA-B", "HLA-C", "HLCS", "HMBS", "HMGA1", "HMGB3", "HMGCL", "HMMR", "HMOX1", "HNRNPA1", "HNRNPA2B1", "HNRNPDL", "HNRNPH2", "HNRNPK", "HNRNPU", "HPRT1", "HPS6", "HS2ST1", "HSD17B10", "HSD17B4", "HSPA9", "HSPB1", "HSPD1", "HTRA2", "HTT", "HUWE1", "HYOU1", "IARS", "IARS2", "IDH1", "IDH2", "IDH3A", "IDH3B", "IFNGR1", "IFT27", "IGBP1", "IGF1R", "IGF2BP2", "IGF2R", "IKBKB", "IMPAD1", "IMPDH1", "INF2", "IRS4", "ISCU", "ITCH", "ITM2B", "ITPA", "IVD", "JUP", "KARS", "KDM1A", "KDM3B", "KDSR", "KEAP1", "KIAA0319L", "KIF11", "KIF1A", "KIF1B", "KIF22", "KIF23", "KIF2A", "KIF4A", "KIFBP", "KIRREL1", "KMT2A", "LAMB1", "LAMC1", "LAMTOR2", "LARP7", "LARS", "LARS2", "LAS1L", "LBR", "LDHA", "LDLR", "LEMD2", "LEMD3", "LETM1", "LIPA", "LLGL1", "LMAN1", "LMNA", "LMNB1", "LMNB2", "LONP1", "LRBA", "LRP1", "LRP2", "LRPAP1", "LRPPRC", "LSS", "LZTFL1", "MACF1", "MAGED2", "MAGT1", "MAN2B1", "MANBA", "MAP1B", "MAP2K1", "MAPK1", "MAPRE2", "MARS", "MAT2A", "MATR3", "MBOAT7", "MCCC1", "MCCC2", "MCM10", "MCM2", "MCM4", "MCM5", "MCM6", "MCM7", "MDH1", "MDH2", "MECP2", "MECR", "MED12", "MED17", "MESD", "MFSD8", "MIA3", "MICU1", "MID1", "MIF", "MINPP1", "MIPEP", "MMAB", "MOGS", "MORC2", "MPG", "MPI", "MPV17", "MRE11", "MRPL12", "MRPL3", "MRPL44", "MRPS2", "MRPS22", "MRPS23", "MRPS25", "MRPS28", "MRPS34", "MRPS35", "MRPS7", "MSH2", "MSH3", "MSH6", "MSMO1", "MSN", "MSTO1", "MTAP", "MTCH1", "MTHFD1", "MTMR2", "MTOR", "MTPAP", "MTR", "MTX2", "MUT", "MYH14", "MYH9", "MYO6", "NAA10", "NAA15", "NADK2", "NAGLU", "NANS", "NARS", "NAXE", "NBN", "NCAPD2", "NCAPH", "NCDN", "NCSTN", "ND1", "ND5", "NDUFA10", "NDUFA11", "NDUFA13", "NDUFA4", "NDUFA8", "NDUFA9", "NDUFAF3", "NDUFAF4", "NDUFB10", "NDUFB3", "NDUFB8", "NDUFB9", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS7", "NDUFV1", "NDUFV2", "NECAP1", "NEDD4L", "NEFL", "NEK9", "NEU1", "NF1", "NFS1", "NHLRC2", "NHP2", "NID1", "NIPBL", "NNT", "NONO", "NOP10", "NOP56", "NOVA2", "NPC1", "NPC2", "NPM1", "NSD1", "NSD2", "NSDHL", "NSF", "NSMCE2", "NSUN2", "NT5C2", "NTHL1", "NUMA1", "NUP107", "NUP133", "NUP155", "NUP160", "NUP188", "NUP205", "NUP214", "NUP37", "NUP62", "NUP85", "NUP88", "NUP93", "NXN", "OAT", "OCLN", "OCRL", "OGDH", "OGT", "OPA1", "OPA3", "P3H1", "P4HA2", "P4HB", "PABPN1", "PAFAH1B1", "PALLD", "PARK7", "PARN", "PBRM1", "PC", "PCBD1", "PCCA", "PCCB", "PCK2", "PCNA", "PDCD6", "PDE6D", "PDHA1", "PDHB", "PDK3", "PDXK", "PEPD", "PEX14", "PEX19", "PEX5", "PFKM", "PFN1", "PGK1", "PGM1", "PGM3", "PHB", "PHF6", "PHGDH", "PHIP", "PHKA1", "PICALM", "PIGA", "PIGK", "PIGS", "PIGT", "PIGU", "PIK3C2A", "PISD", "PITRM1", "PKN1", "PLAA", "PLD3", "PLEC", "PLOD1", "PLOD2", "PLOD3", "PLS3", "PMPCA", "PMPCB", "PMS1", "PMVK", "PNP", "PNPT1", "PODXL", "POFUT1", "POGZ", "POLA1", "POLD1", "POLE", "POLR1A", "POLR1B", "POLR1C", "POLR2A", "POLR3A", "PON2", "POP1", "POR", "PPA2", "PPIB", "PPIL1", "PPOX", "PPP1CB", "PPP1R12A", "PPP2R1A", "PPP2R1B", "PPP2R5D", "PPP3CA", "PPT1", "PQBP1", "PRCC", "PREPL", "PRKACA", "PRKAR1A", "PRKCD", "PRKCSH", "PRKDC", "PRKRA", "PRPF3", "PRPF31", "PRPF4", "PRPF6", "PRPF8", "PSAP", "PSAT1", "PSMB4", "PSMC3", "PSMD12", "PSMG2", "PSPH", "PTCD3", "PTDSS1", "PTPN1", "PTPN11", "PTPRF", "PTRH2", "PUF60", "PUM1", "PURA", "PUS1", "PUS7", "PYCR1", "PYCR2", "PYGL", "QARS", "QDPR", "QRICH1", "QRSL1", "RAB18", "RAB3GAP1", "RAB3GAP2", "RAB7A", "RABL3", "RAC1", "RAD21", "RAD50", "RALA", "RANBP2", "RAPGEF2", "RARS", "RARS2", "RBM10", "RBM12", "RBM28", "RBM8A", "RBMX", "RDH11", "RDX", "REPS1", "RFC1", "RFC2", "RHOA", "RINT1", "RIPK1", "RNASEH2A", "RNASET2", "RNF2", "RPL10", "RPL11", "RPL13", "RPL15", "RPL18", "RPL21", "RPL26", "RPL27", "RPL31", "RPL35", "RPL35A", "RPL5", "RPS10", "RPS14", "RPS15A", "RPS17", "RPS19", "RPS20", "RPS23", "RPS24", "RPS28", "RPS6KA3", "RPS7", "RPSA", "RRAS2", "RREB1", "SALL2", "SAMHD1", "SAR1B", "SARS", "SARS2", "SASS6", "SBDS", "SCAF1", "SCARB2", "SCO1", "SCO2", "SCP2", "SDHA", "SDHB", "SEC23A", "SEC24C", "SEC31A", "SEC61A1", "SEC63", "SEPT9", "SERPINB6", "SERPINB8", "SERPINH1", "SET", "SETD1A", "SF3B1", "SF3B4", "SFXN4", "SGPL1", "SH3GL1", "SH3PXD2B", "SHMT2", "SHOC2", "SIGMAR1", "SIN3A", "SKIV2L", "SLC12A2", "SLC16A1", "SLC19A1", "SLC25A1", "SLC25A10", "SLC25A11", "SLC25A12", "SLC25A13", "SLC25A15", "SLC25A19", "SLC25A20", "SLC25A22", "SLC25A24", "SLC25A26", "SLC25A3", "SLC25A32", "SLC25A4", "SLC27A4", "SLC2A1", "SLC33A1", "SLC39A14", "SLC9A6", "SLTM", "SMARCA4", "SMARCAD1", "SMARCB1", "SMARCC2", "SMARCD1", "SMARCE1", "SMC1A", "SMC3", "SMCHD1", "SMN1*", "SMPD4", "SMS", "SNRNP200", "SNRPE", "SOAT1", "SON", "SORD", "SORL1", "SPART", "SPATA5", "SPECC1L", "SPEN", "SPR", "SPTAN1", "SPTBN1", "SPTLC1", "SPTLC2", "SQSTM1", "SRCAP", "SRP54", "SRP72", "SSBP1", "SSR4", "STAG1", "STAG2", "STAMBP", "STARD7", "STAT1", "STAT3", "STK4", "STT3A", "STT3B", "STUB1", "STX3", "SUCLA2", "SUCLG1", "SURF1", "SUZ12", "SYNE2", "TACO1", "TAF15", "TAF6", "TALDO1", "TAP1", "TARDBP", "TARS", "TARS2", "TBCD", "TBCE", "TBK1", "TBL1XR1", "TBL2", "TCOF1", "TDP2", "TECR", "TELO2", "TENM3", "TERF2IP", "TFAM", "TFG", "TFRC", "THOC2", "THOC6", "TIA1", "TIMM50", "TIMMDC1", "TJP2", "TKT", "TLK2", "TMCO1", "TMEM126A", "TMEM165", "TMEM199", "TMEM43", "TMPO", "TMPO", "TMTC3", "TMX2", "TNPO3", "TOE1", "TOMM40", "TOP2A", "TOR1AIP1", "TP53", "TPI1", "TPM3", "TPP1", "TPP2", "TRAPPC11", "TRAPPC4", "TRIM28", "TRIP12", "TRIP13", "TRMT10C", "TRRAP", "TSC2", "TSFM", "TSR2", "TTC19", "TTC37", "TUBB", "TUBB2A", "TUBB2B", "TUBB4A", "TUBB4B", "TUBB6", "TUBGCP2", "TUFM", "UBA1", "UBA5", "UBE4A", "UBE4B", "UBTF", "UFC1", "UFD1", "UFSP2", "UGP2", "UMPS", "UNC45A", "UNG", "UPF3B", "UQCRB", "UQCRC1", "UQCRC2", "UQCRQ", "UROD", "USMG5", "USP7", "USP8", "USP9X", "VAC14", "VAMP7", "VANGL1", "VAPB", "VARS1", "VCL", "VCP", "VIM", "VLDLR", "VPS33A", "VPS33B", "VPS35", "VPS45", "VPS4A", "VPS51", "VPS53", "VRK1", "WARS", "WBP11", "WDR1", "WDR36", "WDR4", "WDR73", "WFS1", "WIPI2", "XPC", "XPNPEP3", "XRCC1", "YARS", "YARS2", "YME1L1", "YWHAE", "YWHAG", "ZC3H14", "ZCCHC8", "ZFR", "ZMPSTE24", "ZNF687"], "leading_proteins": ["AAAS", "ABCD3", "ABCD4", "ACBD5", "ACOX1", "ACP2", "ACSL4", "ACTN1", "AGK", "AIFM1", "AKT1", "AKT2", "ALDH18A1", "ALDH3A2", "ALG1", "ALG11", "ALG12", "ALG2", "ANKLE2", "ANO10", "ANO6", "AP1B1", "AP2M1", "AP2S1", "AP3B1", "APC", "APOB", "APOL2", "APP", "ARL2", "ARV1", "ASAH1", "ATAD3A", "ATL3", "ATP1A1", "ATP2A2", "ATP6AP1", "ATP6AP2", "ATP6V0A2", "ATP6V1B2", "ATP6V1E1", "ATP7A", "ATXN10", "B3GALT6", "B4GAT1", "BCAP31", "BCOR", "BRAT1", "C19orf70", "C1QBP", "CALM3", "CALR", "CANT1", "CAPN5", "CARS", "CCDC22", "CCDC47", "CD46", "CDC40", "CDC45", "CDH2", "CDK4", "CEP290", "CERS1", "CHMP2B", "CLCC1", "CLCN7", "CLN5", "CLPP", "CNOT1", "COA3", "COA7", "COLEC12", "COMT", "COPB2", "COX15", "COX2", "COX4I1", "CPE", "CPOX", "CPT2", "CRTAP", "CSNK2B", "CTNNB1", "CTNND1", "CTPS1", "CTSA", "CTSB", "CTSC", "CYB5R3", "DARS2", "DCPS", "DDB1", "DDRGK1", "DDX41", "DHCR24", "DHCR7", "DHFR", "DIABLO", "DLD", "DLG3", "DNM1L", "DNM2", "DPM1", "DSC2", "DSC3", "DSG2", "DYM", "ECE1", "EGFR", "EIF2B5", "ELMO2", "EMD", "EPB41", "ERAP1", "ERCC2", "ERCC4", "ERGIC1", "EWSR1", "EXOC7", "EXOSC3", "FANCD2", "FAR1", "FARSA", "FDPS", "FKBP14", "FKRP", "FLII", "FOXRED1", "FREM2", "FUCA1", "FUS", "G6PD", "GAA", "GALNT2", "GBA", "GGCX", "GLA", "GLB1", "GLMN", "GLT8D1", "GM2A", "GMPPA", "GMPPB", "GNAI2", "GNAI3", "GNS", "GPAA1", "GPD2", "GUSB", "HCCS", "HEXA", "HEXB", "HIRA", "HLA-A", "HLA-B", "HLA-C", "HMOX1", "HNRNPA2B1", "HNRNPDL", "HNRNPH2", "HNRNPK", "HPS6", "HS2ST1", "HSD17B4", "HTT", "IARS2", "IFNGR1", "IGBP1", "IGF1R", "IGF2BP2", "IGF2R", "IMPAD1", "IRS4", "ITCH", "ITM2B", "KDSR", "KEAP1", "KIAA0319L", "KIF23", "KIFBP", "KIRREL1", "LAMB1", "LAMC1", "LBR", "LDLR", "LETM1", "LIPA", "LMAN1", "LRP1", "LRP2", "MAGT1", "MAN2B1", "MANBA", "MAP2K1", "MAPK1", "MAPRE2", "MARS", "MATR3", "MBOAT7", "MCM6", "MED17", "MESD", "MFSD8", "MIA3", "MICU1", "MIF", "MINPP1", "MIPEP", "MORC2", "MPV17", "MSMO1", "MSTO1", "MTAP", "MTCH1", "MTOR", "MTX2", "NAGLU", "NARS", "NCSTN", "ND1", "ND5", "NDUFA11", "NDUFA13", "NDUFB10", "NDUFB3", "NDUFB8", "NDUFB9", "NDUFS2", "NEDD4L", "NEFL", "NEU1", "NID1", "NNT", "NONO", "NPC1", "NPC2", "NSUN2", "NTHL1", "NUP160", "NUP205", "NUP37", "NUP88", "NUP93", "OCLN", "OCRL", "OPA1", "OPA3", "P3H1", "P4HB", "PABPN1", "PAFAH1B1", "PDCD6", "PDE6D", "PEX14", "PEX19", "PEX5", "PHGDH", "PHIP", "PHKA1", "PIGK", "PIGU", "PISD", "PLAA", "PLD3", "PLOD1", "PMPCA", "PODXL", "POLA1", "PON2", "POR", "PPP2R1B", "PPP2R5D", "PPT1", "PRCC", "PREPL", "PRKACA", "PRKAR1A", "PRKCSH", "PRKRA", "PSAP", "PTDSS1", "PTPN1", "PTPRF", "PUF60", "PUS1", "RAB18", "RAB3GAP1", "RAB7A", "RABL3", "RAC1", "RALA", "RBM10", "RDH11", "RINT1", "RNASET2", "RNF2", "RPL10", "RPS15A", "RPSA", "RRAS2", "SAR1B", "SCARB2", "SCO2", "SDHB", "SET", "SF3B1", "SFXN4", "SGPL1", "SIGMAR1", "SLC12A2", "SLC25A1", "SLC25A10", "SLC25A13", "SLC25A15", "SLC25A19", "SLC25A22", "SLC25A24", "SLC25A26", "SLC25A32", "SLC25A4", "SLC2A1", "SLC33A1", "SLC39A14", "SLC9A6", "SMARCAD1", "SMARCB1", "SMARCE1", "SMN1*", "SMPD4", "SOAT1", "SORL1", "SPART", "SPTBN1", "SPTLC1", "SQSTM1", "SSR4", "STAG1", "STAG2", "STAMBP", "STARD7", "STAT3", "STK4", "STT3A", "STT3B", "STUB1", "STX3", "SURF1", "SUZ12", "TAF15", "TAP1", "TBCD", "TBL1XR1", "TBL2", "TECR", "TENM3", "TFRC", "TIMM50", "TIMMDC1", "TLK2", "TMEM126A", "TMEM165", "TMEM199", "TMEM43", "TMPO", "TMX2", "TNPO3", "TOMM40", "TPM3", "TPP1", "TRAPPC11", "TSC2", "TTC19", "TTC37", "TUBB4A", "TUBGCP2", "UBE4B", "UFSP2", "UQCRC2", "UQCRQ", "VAMP7", "VANGL1", "VIM", "VLDLR", "VPS33A", "VPS51", "WFS1", "WIPI2", "XPC", "YARS2", "ZMPSTE24"]}