Db	Link	Name	Definition	Comment	Is a
HPO	HP:0001250	Seizure	"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939]	A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.	HP:0012638
HPO	HP:0002186	Apraxia	"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson]	—	HP:0011442, HP:0011446
HPO	HP:0002185	Neurofibrillary tangles	"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken]	—	HP:0100314
HPO	HP:0002511	Alzheimer disease	"A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [HPO:probinson]	Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.	HP:0002011
HPO	HP:0002354	Memory impairment	"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson]	Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.	HP:0100543
HPO	HP:0000006	Autosomal dominant inheritance	"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]	—	HP:0000005
HPO	HP:0012662	Parietal hypometabolism in FDG PET	"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, PMID:15073255]	Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex.	HP:0012658
HPO	HP:0000726	Dementia	"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson]	—	HP:0001268
HPO	HP:0006979	Sleep-wake cycle disturbance	"Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake." []	—	HP:0002360
HPO	HP:0100256	Senile plaques	"Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken]	Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic.	HP:0007367
HPO	HP:0011970	Cerebral amyloid angiopathy	"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, PMID:21519520]	Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression.	HP:0011034
HPO	HP:0011970	Cerebral amyloid angiopathy	"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, PMID:21519520]	Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression.	HP:0011034
HPO	HP:0003596	Middle age onset	"A type of adult onset with onset of symptoms at the age of 40 to 60 years." [HPO:probinson]	Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years.	HP:0003581
HPO	HP:0000982	Palmoplantar keratoderma	"Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson]	—	HP:0000972
HPO	HP:0003236	Elevated circulating creatine kinase concentration	"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson]	'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))	HP:0040081
HPO	HP:0100578	Lipoatrophy	"Localized loss of fat tissue." [HPO:sdoelken]	This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs.	HP:0009125
HPO	HP:0001874	Abnormality of neutrophils	"A neutrophil abnormality." [HPO:probinson, PMID:21094463, PMID:26819959]	Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.	HP:0001911
HPO	HP:0003198	Myopathy	"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson]	The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.	HP:0011805
HPO	HP:0003457	EMG abnormality	"Abnormal results of investigations using electromyography (EMG)." [HPO:probinson, PMID:15961866, PMID:18751841]	—	HP:0011804
HPO	HP:0001644	Dilated cardiomyopathy	"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [PMID:17916581]	—	HP:0001638
HPO	HP:0000407	Sensorineural hearing impairment	"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson]	Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).	HP:0000365, HP:0011389
OMIM	OMIM:613697	CARDIOMYOPATHY, DILATED, 1V; CMD1V	—	—	—
OMIM	OMIM:606889	ALZHEIMER DISEASE 4	—	—	—