Neurenteric cyst

description: The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


primary tethered cord syndrome

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


iniencephaly

description: Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


Exencephaly

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


acalvaria

description: Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Drug-Induced Liver Disease

description: Damage to the liver tissue due to drug overdose.


breast neoplasm

description: A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.


psychotic disorder

description: An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.


name: circadian rhythm sleep disorder, delayed sleep phase type

description: A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.


name: circadian rhythm sleep disorder, advanced sleep phase type

description: A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.


Epileptic encephalopathy

description: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


Jacksonian Seizure

description: A partial motor seizure that begins in a single area of the body and progresses to include other areas on the same side of the body.


Muscle flaccidity

description: A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.


Decreased corneal reflex

description: An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.


Hyperreflexia

description: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.


Areflexia

description: Absence of neurologic reflexes such as the knee-jerk reaction.


Generalized-onset seizure

description: A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


Clonic seizure

description: A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


Tonic seizure

description: A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.


Atonic seizure

description: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Absent corneal reflex

description: Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.


name: Focal sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.


name: Focal sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena as its first clinical manifestation.


Bilateral tonic-clonic seizure

description: A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.


Absent Achilles reflex

description: Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Palmomental reflex

description: A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Motor seizure

description: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


Neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Myoclonic seizure

description: A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


colorectal carcinoma

description: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


colorectal neoplasm

description: A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


Abnormal cornea morphology

description: Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.


Cytopenia

description: A laboratory test result indicating an abnormally low quantity of circulating blood cells.


congenital anemia

description: Anemia, the cause of which is present at birth.


Sensory ataxia

description: Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.


Truncal ataxia

description: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


Rubral tremor

description: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


pneumonitis

description: An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.


neoplasm of esophagus

description: A neoplasm (disease) that involves the esophagus.


Adenocarcinoma, Oxyphilic

description: An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma.


cribriform carcinoma

description: A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.


lung large cell carcinoma

description: A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.


B-cell acute lymphoblastic leukemia

description: A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)


pancreatic neoplasm

description: A benign or malignant neoplasm involving the pancreas.


stroke disorder

description: A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.


Acute Cerebrovascular Accidents

description: The sudden or severe onset of neurological deficit(s) attributable to an acute focal vascular injury of the central nervous system.


Right ventricular failure

description: Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.


heart failure

description: Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.


name: long chain acyl-CoA dehydrogenase deficiency

description: A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.


necrotizing enterocolitis

description: Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.


Anoxia

description: Absence or reduction of oxygen in body tissue.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Action tremor

description: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.


Postural tremor

description: A type of tremors that is triggered by holding a limb in a fixed position.


Resting tremor

description: A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


Pill-rolling tremor

description: A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.


name: psoriasis-related juvenile idiopathic arthritis

description: Childhood arthritis typically associated with psoriasis.


familial hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.


name: Autosomal Recessive Centronuclear Myopathy


Decreased liver function

description: Reduced ability of the liver to perform its functions.


Endometrioma

description: A cystic form of endometriosis affecting the ovary.  It may or may not be associated with endometriosis in other areas in the pelvis.


autoimmune hepatitis type 1

description: Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).


myocardial ischemia

description: A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).


undifferentiated carcinoma

description: A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.


Carcinomatosis

description: Carcinoma that has spread diffusely to an anatomic site or throughout the body.


name: linear and whorled nevoid hypermelanosis

description: Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


cephalocele

description: A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.


paroxysmal dystonia

description: A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.


Limb dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.


Sensory hearing loss

description: Hearing loss caused by damage to the cochlea in the inner ear.


Becker nevus syndrome

description: Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


Secundum atrial septal defect

description: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


name: Left ventricular noncompaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: visceral neuropathy, familial, 3, autosomal dominant


description: This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


glioma

description: A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.


diffuse astrocytoma

description: A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.


cerebral astrocytoma

description: An astrocytoma that arises from the cerebral hemispheres.


gastric adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the stomach


Right atrial isomerism

description: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


Left atrial isomerism

description: In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


name: heritable pulmonary arterial hypertension

description: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


name: idiopathic pulmonary arterial hypertension

description: Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.


Vascular Remodeling

category: biolink:PhysiologicalProcess biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


Venous Engorgement

description: Tissue congestion due to the obstruction of venous blood flow return.


Metastatic Cutaneous Melanoma

description: A melanoma that arises from the skin and has metastasized to another anatomic site.


name: Organic Mental Disorders, Substance-Induced


drug dependence

description: Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


Hyperactivity

description: Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.


Birth Weight

category: biolink:OrganismAttribute biolink:Attribute biolink:OntologyClass biolink:NamedThing


idiopathic cardiomyopathy

description: A disease of the heart muscle or myocardium proper whose cause is unknown.


chorea, benign familial

description: Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


name: acute myeloblastic leukemia without maturation

description: An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)


name: acute myeloblastic leukemia with maturation

description: An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)


Akathisia

description: A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.


laryngeal neoplasm

description: A benign or malignant neoplasm involving the larynx.


oral cavity cancer

description: A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


digestive system neoplasm

description: A neoplasm (disease) that involves the digestive system.


Burning Pain

description: A sensation of intensely hot or searing discomfort.


Ache

description: A dull persistent (usually moderately intense) pain.


Radiating Pain

description: A sensation of discomfort or distress that spreads from one anatomic location to another.


Splitting Pain

description: An intense sensation of discomfort or distress that feels like being cut apart.


Crushing Pain

description: A sense of discomfort or distress that is squeezing or excessively compressing.


Severe Sepsis

description: Clinical syndrome defined by the presence of both infection and a systemic inflammatory response that progresses to multi-organ failure.


Middle Cerebral Artery Syndrome

description: A common stroke syndrome caused by infarction of the cerebral territories supplied by the middle cerebral artery (MCA). As the areas of the brain perfused by the MCA are extensive, symptoms vary widely but may be characterized by hemiparesis, hemianopia, hemineglect and aphasia.


name: Posterior Circulation Transient Ischemic Attack


name: Carotid Circulation Transient Ischemic Attack


name: Transient Ischemic Attack, Vertebrobasilar Circulation


name: Embolic Infarction, Middle Cerebral Artery


name: Thrombotic Infarction, Middle Cerebral Artery


melancholia

description: A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.


Primary Insomnia

description: A sleep disorder characterized by difficulty initiating or maintaining sleep; this difficulty does not occur in the context of another sleep disorder and is not etiologically linked to a mental disorder, substance use, or a general medical condition.


Panic attack

description: A sudden episode of intense fear in a situation where there is no danger or apparent cause.


neurotic depression

description: A term used for any state of depression that is not psychotic.


Nonorganic Insomnia

description: Insomnia as a result of an extrinsic cause.


Terminal insomnia

description: A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.


Chronic Insomnia

description: Insomnia that has persisted at least one month.


toxic epidermal necrolysis

description: Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.


pseudopelade of Brocq

description: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


name: Autosomal Dominant Juvenile Parkinson Disease


name: Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum


androgenetic alopecia

description: Absence of hair in the anterior midline and/or parietal areas.


Focal sensory seizure

description: A focal sensory seizure is a type seizure beginning with a subjective sensation.


hyperlipidemia

description: Elevated levels of lipids in the blood.


HIV Encephalopathy

description: Encephalopathy that is associated with human immunodeficiency virus (HIV) infection.


name: HIV-1-Associated Cognitive Motor Complex


colorectal adenocarcinoma

description: The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


Mania

description: A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


Postprandial hyperglycemia

description: An increased concentration of glucose in the blood following a meal.


Complete Hearing Loss

description: Total inability to hear sounds in one or both ears.


Bilateral Deafness

description: Partial or total inability to hear sounds in both ears.


Aortic dissection

description: Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.


pituitary tumor

description: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


corpus luteum cyst

description: A ovarian cyst (disease) that involves the corpus luteum.


breast lobular carcinoma

description: An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.


description: 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


name: Amino Acid Metabolism, Inherited Disorders


ureter neoplasm

description: A benign or malignant neoplasm that affects the ureter.


Tachyarrhythmia

description: A disorder characterized by an arrhythmia with an above normal rate.


Contact hypersensitivity

description: Contact hypersensitivity is an inflammatory response induced by antigen-reactive T cells that are exposed to antigen on the skin surface (epidermis).  Poison ivy is a frequent cause of such reactivity, due to the urushiol from the plant, as are a variety of antigens derived from industrial exposure (e.g. rubber, chromate, nickel).  These antigens induce the appearance of Th1-like T cells, which presumably produce IFN to activate macrophages.


name: Psychogenic Inversion of Circadian Rhythm


name: alopecia - intellectual disability syndrome

description: An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.


prostate adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the prostate gland


Meningioma

description: The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


Multiple meningiomas

description: The occurrence of multiple distinct meningiomas in the same individual.


anaplastic meningioma

description: A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


Hemangioblastic Meningioma

description: An obsolete term referring to hemangiopericytoma of the central nervous system.


name: Neoplasm of uncertain or unknown behavior of ovary


name: Neoplasm of uncertain or unknown behavior of breast


ovarian neoplasm

description: A benign, borderline, or malignant neoplasm involving the ovary.


endometrium adenocarcinoma

description: An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.


posterior cranial fossa meningioma

description: A meningioma that affects the posterior cranial fossa.


Cowden syndrome 2

description: Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.


papillary meningioma

description: A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.


benign neoplasm of pancreas

description: A benign neoplasm that involves the pancreas.


name: familial partial lipodystrophy, Kobberling type

description: Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


porphyria

description: Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


description: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


dense deposit disease

description: Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


name: Membranoproliferative Glomerulonephritis, Type III


adrenomyeloneuropathy

description: An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


variant Creutzfeldt-Jakob disease

description: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


Membranous cataract

description: A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.


isolated microphthalmia 1

description: A microphthalmia that has material basis in variation in the chromosomal region 14q32.


benign neoplasm of brain

description: A benign neoplasm that involves the brain.


primary brain neoplasm

description: A neoplasm arising from the brain.


Recurrent Brain Neoplasm

description: The reemergence of a brain neoplasm after a period of remission.


description: ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).


ALK-positive large B-cell lymphoma

description: Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.


ovarian serous adenocarcinoma

description: An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.


Adenoma, Basal Cell

description: A salivary gland benign epithelial neoplasm with a uniform, monomorphic appearance that is dominated by basal cells forming trabecular structures. It is rare and occurs mostly on the parotid gland. The average age of patients has been reported to be 58 years. Swelling is the most constant clinical finding.


Adenoma, Monomorphic

description: A benign epithelial neoplasm arising from the salivary glands. It is characterized by the presence of a monomorphic cellular infiltrate.


Adenoma, Trabecular

description: A benign epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.


inherited ichthyosis

description: Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


erythrokeratoderma

description: An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


lymphatic system disorder

description: A disease involving the lymphatic part of lymphoid system.


isolated cerebellar hypoplasia/agenesis

description: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.


name: Anemia, hereditary spherocytic hemolytic


Anhedonia

description: Inability to experience pleasurable activities usually found enjoyable.


description: Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


Convulsive status epilepticus

description: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


name: Status epilepticus without prominent motor symptoms

description: There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


rectal carcinoma

description: A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


Hematochezia

description: The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.


mesothelioma

description: A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.


CSF pleocytosis

description: An increased white blood cell count in the cerebrospinal fluid.


benign neoplasm of stomach

description: A benign neoplasm that involves the stomach.


stomach carcinoma in situ

description: A in situ carcinoma that involves the stomach.


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


name: Neoplasm of uncertain or unknown behavior of stomach


colon carcinoma

description: A carcinoma that arises from epithelial cells of the colon


gastric carcinoma

description: A carcinoma that arises from epithelial cells of the stomach.


desmoplastic/nodular medulloblastoma

description: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


name: Hereditary Nonpolyposis Colorectal Cancer

description: An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers.  It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes.


name: medulloblastoma with extensive nodularity

description: Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


autoimmune polyendocrinopathy type 3

description: A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.


name: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA


X-linked lymphoproliferative syndrome

description: X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).


cervical polyp

description: A polyp that arises from the surface of the cervix.


Anasarca

description: An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.


periodic fever syndrome

description: Fevers of unknown etiology recurring over months or years.


Childhood Overweight

description: A condition in which a child's body mass index (BMI) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population.


hyperlipoproteinemia

description: An elevated concentration of lipoproteins.


hyperalphalipoproteinemia

description: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


Bradykinesia

description: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).


delirium

description: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)


internal carotid artery stenosis

description: Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.


Todd's Paralysis

description: A neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis.


Mental deterioration

description: Loss of previously present mental abilities, generally in adults.


ABetaA21G amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


benign prostatic hyperplasia

description: A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.


non-Hodgkin lymphoma

description: Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.


Parageusia

description: A distortion of the sense of taste, often characterized by the sensation of a metallic taste.


name: Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant


description: Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).


name: Congenital Nephrogenic Diabetes Insipidus


tongue neoplasm

description: A neoplasm (disease) that involves the tongue.


name: Nervous System, Organic Arsenic Poisoning


name: Idiopathic arterial calcification of infancy


pseudoxanthoma elasticum, forme fruste

description: An autosomal dominant form of PXE.


head and neck neoplasm

description: A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


neoplasm of neck

description: A neoplasm (disease) that involves the neck.


malignant tumor of neck

description: A cancer that involves the neck.


upper aerodigestive tract neoplasm

description: Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)


name: Pulmonary Fibrosis - from Asbestos Exposure


Morgagni diaphragmatic hernia

description: An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Posterolateral diaphragmatic hernia

description: A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


seasonal affective disorder

description: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.


name: chondrodysplasia punctata, brachytelephalangic, autosomal


basal cell carcinoma

description: A carcinoma involving the basal cells.


skin pigmented basal cell carcinoma

description: A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.


name: Argininosuccinic Acid Synthetase Deficiency Disease, Partial


name: Argininosuccinic Acid Synthetase Deficiency, Complete


Deep venous thrombosis

description: Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.


Paroxysmal atrial fibrillation

description: Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.


bladder benign neoplasm

description: A benign abnormal growth of the cells that comprise the bladder.


bladder carcinoma in situ

description: Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Neoplasm of uncertain or unknown behavior of bladder


name: Malignant lymphoma - lymphocytic, intermediate differentiation


urinary bladder carcinoma

description: A carcinoma that arises from epithelial cells of the urinary bladder


name: Hereditary non-polyposis colorectal cancer syndrome


ataxia - telangiectasia variant

description: Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


T-cell prolymphocytic leukemia

description: A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.


adrenal cortex adenoma

description: A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)


familial primary hypomagnesemia

description: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


name: Acantholytic Dyskeratotic Epidermal Nevus


disorder of glutamate decarboxylase

description: A disease that has its basis in the disruption of glutamate decarboxylase activity.


Lymphoma, Large-Cell, Follicular

description: A follicular lymphoma which contains more than 15 centroblasts per 40X high-power microscopic field.


Lymphoma, Mixed-Cell, Follicular

description: A follicular lymphoma which contains 6-15 centroblasts per 40X high-power microscopic field.


name: Lymphoma, Small Cleaved-Cell, Follicular

description: A follicular lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field.


Aortic rupture

description: Tearing of the aortic wall generally associated with profuse internal bleeding.


Neurological Signs and Symptoms

description: A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system.


Nervous System Finding

description: Symptoms, physical examination results, and/or laboratory test results related to the nervous system.


Motor Deficit

description: Loss of movement function.


kidney neoplasm

description: A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.


squamous cell lung carcinoma

description: A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.


oropharynx squamous cell carcinoma

description: A squamous cell carcinoma that involves the oropharynx.


endometrium carcinoma in situ

description: A carcinoma in situ involving a endometrium.


Cancer of Urinary Tract

description: A primary or metastatic malignant neoplasm involving the urinary tract.


name: Infiltrating duct carcinoma of female breast


Bilateral cryptorchidism

description: Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Unilateral cryptorchidism

description: Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


pancreatic endocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


Hypovolemic shock

description: A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.


Transient psychotic episodes

description: Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


ovarian clear cell adenocarcinoma

description: A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.


intermittent maple syrup urine disease

description: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


name: Maple Syrup Urine Disease, Thiamine Responsive


intermediate maple syrup urine disease

description: Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


name: Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate


name: APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1


maple syrup urine disease type 2

description: A maple syrup urine disease caused by mutations in DBT.


maple syrup urine disease type 1B

description: A maple syrup urine disease caused by mutations in BCKDHB.


thyroid tumor

description: A benign or malignant neoplasm affecting the thyroid gland.


papillomatosis

description: Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.


gallbladder neoplasm

description: A neoplasm (disease) that involves the gall bladder.


Lymphoma, Mixed-Cell

description: An antiquated term that refers to a lymphoma composed of a mixture of small and large lymphocytes.


Schwartz-Jampel syndrome

description: A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).


soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.


Spondyloepiphyseal dysplasia

description: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).


Lymphoma, Intermediate-Grade

description: An antiquated term that refers to a non-Hodgkin lymphoma with intermediate grade histologic features.


Lymphoma, Low-Grade

description: An antiquated term that refers to a non-Hodgkin lymphoma with low grade histologic features.


Diffuse Mixed-Cell Lymphoma

description: An antiquated term referring to non-Hodgkin lymphomas with a mixed cellular composition. This term applies to both B- and T- cell non-Hodgkin lymphomas.


intravascular large B-cell lymphoma

description: Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.


bipolar I disorder

description: A bipolar disorder that is characterized by at least one manic or mixed episode.


lymphosarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.


name: primary mediastinal large B-cell lymphoma

description: A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)


bladder transitional cell carcinoma

description: The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.


name: Encephalopathy, Subacute Necrotizing, Infantile


name: Encephalopathy, Subacute Necrotizing, Juvenile


Astrocytosis

description: Proliferation of astrocytes in the area of a lesion of the central nervous system.


nuclear cataract

description: A cataract (disease) that involves the lens nucleus.


Secondary Biliary Cholangitis

description: Biliary cirrhosis due to obstruction of the extrahepatic ducts.


isolated oxycephaly

description: Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.


Brachycephaly

description: An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.


Scaphocephaly

description: Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.


trigonocephaly

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Fracture, spiral

description: A type of fracture in which the break spirals around the bone.


cleft lip/palate

description: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


renal agenesis, unilateral

description: Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


Familial colorectal cancer type X

description: Hereditary nonpolyposis colorectal cancer syndrome characterized by the absence of germline mutations in DNA mismatch-repair genes.


metastatic melanoma

description: A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


name: drug- or toxin-induced pulmonary arterial hypertension

description: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


Adult Type Ovarian Granulosa Cell Tumor

description: A low-grade malignant sex cord-stromal tumor that occurs in the ovary and affects middle aged to post-menopausal women. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course.


ovarian granulosa cell tumor

description: A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.


name: Blepharophimosis, Ptosis, and Epicanthus Inversus Type II


sporadic breast cancer

description: A carcinoma that arises from the breast and is not caused by inherited genetic mutations.


primary peritoneal carcinoma

description: A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.


name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1


minimally invasive lung adenocarcinoma

description: A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.


Langerhans cell histiocytosis

description: Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.


childhood brain stem glioma

description: An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.


Adult Craniopharyngioma

description: A craniopharyngioma that occurs during adulthood.  It can be either adamantinomatous or papillary.  The papillary histologic variant occurs virtually exclusively in adults.  Clinical signs and symptoms include visual disturbances and endocrine deficiencies.


lung carcinoma

description: A carcinoma that arises from epithelial cells of the lung


nongerminomatous germ cell tumor

description: A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.


Hashimoto-Pritzker syndrome

description: Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).


familial nonmedullary thyroid carcinoma

description: Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.


Wilms tumor

description: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


Radial club hand

description: Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.


syndromic agammaglobulinemia

description: A agammaglobulinemia that is part of a larger syndrome.


microlissencephaly

description: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


name: Chromosomal mosaicism due to mitotic instability


name: Fulminant Hepatic Failure with Cerebral Edema


hereditary angioedema type 1

description: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


hereditary angioedema type 2

description: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


C1Q deficiency

description: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


immunodeficiency disease

description: Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.


complement component C1r/C1s deficiency

description: Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


adult dermatomyositis

description: Dermatomyositis in an adult.


pemphigus foliaceus

description: Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.


autoimmune thrombocytopenia

description: An autoimmune form of thrombocytopenia.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


meningitis

description: A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.


name: Meningitis, Meningococcal, Serogroup W-135


name: Amyotrophic Lateral Sclerosis With Dementia


Atypical Ductal Breast Hyperplasia

description: A neoplastic process that arises from the terminal ductal lobular unit of the breast parenchyma.  It is usually solitary and confined to a single lobular unit.  It is characterized by the presence of a monomorphic epithelial proliferation in a cribriform, micropapillary, or solid growth pattern.  Focal architectural features of low grade ductal carcinoma in situ are present.  There is an increased risk for development of invasive breast carcinoma.


name: benign paroxysmal torticollis of infancy

description: Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.


Reactive hypoglycemia

description: Hypoglycermia following a meal (or more generally, after intake of glucose).


Heart block

description: Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.


Sinus Node Dysfunction (disorder)

description: A derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome


name: Night Blindness, Congenital Stationary, Type 2B


name: Night blindness, congenital stationary, type 1


Respiratory insufficiency

description: Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.


name: Generalized Nonconvulsive Seizure Disorder


name: epilepsy, idiopathic generalized, susceptibility to, 1


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


name: hereditary persistence of fetal hemoglobin

description: The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.


thalassemia minor

description: The inheritance of only one mutated beta-globin allele (beta+ or beta0).


Abdominal Migraine

description: Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor.


Status Migrainosus

description: An episode of migraine that persists for more than 72 hours.


Traumatic injury

description: Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


retrobulbar neuritis

description: Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.


name: Symmetric Diabetic Proximal Motor Neuropathy


name: Asymmetric Diabetic Proximal Motor Neuropathy


adult hepatocellular carcinoma

description: Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


oral cavity squamous cell carcinoma

description: A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.


familial hypocalciuric hypercalcemia

description: Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.


Bartter syndrome with hypocalcemia

description: Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)


autosomal dominant hypocalcemia

description: Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.


Claustrophobia

description: An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.


Kidney Calculi

category: biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


Pulmonary thromboembolism

description: Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.


name: Alcohol Related Neurodevelopmental Disorder

description: A cognitive and neurological disorder due to fetal intrauterine exposure to maternal alcohol consumption. Typically, this presents without facies or other growth abnormalities.


Bonnevie-Ullrich syndrome

description: A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.


partial fetal alcohol syndrome

description: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.


rippling muscle disease

description: A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


name: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY


name: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly


name: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

description: An acute lymphoblastic leukemia that originates from pre-B lymphocytes. The pre-B lymphoblasts contain cytoplasmic immunoglobulin.


platelet storage pool deficiency

description: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.


name: Cavernous Angioma, Central Nervous System


name: famililal cerebral cavernous malformations

description: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


Acquired Hypogammaglobulinemia

description: A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.


Adult Hodgkin Lymphoma

description: Hodgkin lymphoma occurring in adults.


name: nodular lymphocyte predominant Hodgkin lymphoma

description: A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)


staphylococcus aureus infection

description: An infectious process in which the bacteria Staphylococcus aureus is present.


hyper-IgM syndrome

description: A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.


polyarticular arthritis

description: An arthritis affecting five or more separate joints.


autosomal agammaglobulinemia

description: Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.


blepharocheilodontic syndrome

description: An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.


Adult Diffuse Large B-Cell Lymphoma

description: A diffuse large B-cell lymphoma occurring in adults.


Childhood Diffuse Large B-Cell Lymphoma

description: A diffuse large B-cell lymphoma that occurs during childhood.


dedifferentiated liposarcoma

description: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.


name: autosomal recessive primary microcephaly

description: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.


tumor of uterus

description: A neoplasm (disease) that involves the uterus.


neuroendocrine carcinoma

description: A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.


small intestine neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


Hyperplasia of the endometrium

description: A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).


complex endometrial hyperplasia

description: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.


atypical endometrial hyperplasia

description: An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.


simple endometrial hyperplasia

description: A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.


Genitourinary Cancer

description: A primary or metastatic malignant neoplasm that affects the genitourinary system.


Radiation-Induced Cancer

description: A malignant neoplasm arising in a site exposed to radiation therapy.


idiopathic bronchiectasis

description: Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).


name: Autosomal Dominant Hereditary Pancreatitis


Monoplegia

description: Paralysis that affects one limb.


Hemiplegia, Flaccid

description: Evidence of flaccid hemiplegia affecting the unspecified side.


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


name: Congenital Myasthenic Syndromes, Presynaptic


extra-adrenal sympathetic paraganglioma

description: A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.


Narcolepsy-Cataplexy Syndrome

description: Evidence of narcolepsy with cataplexy.


Neurogenic bladder

description: A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.


ocular albinism

description: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.


name: Congenital Myasthenic Syndromes, Postsynaptic


name: autosomal dominant nocturnal frontal lobe epilepsy

description: A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


Umbilical hernia

description: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.


name: Myasthenic Syndromes, Congenital, Slow Channel


hydroa vacciniforme

description: A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.


name: late infantile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


adult neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


name: MIT family translocation renal cell carcinoma

description: MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.


hyperbilirubinemia

description: A disease characterized by elevated level of the pigment bilirubin in the blood.


name: Akinetic-Rigid Variant of Huntington Disease


juvenile Huntington disease

description: Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


Ehlers-Danlos syndrome, classic type

description: Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.


Synovial lining hyperplasia

description: Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.


name: autosomal dominant rhegmatogenous retinal detachment

description: Autosomal dominant form of rhegmatogenous retinal detachment.


acrogeria

description: A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.


hereditary nephritis

description: A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


name: epidermolysis bullosa simplex superficialis

description: Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


name: dystrophic epidermolysis bullosa, nails only

description: Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


name: centripetalis recessive dystrophic epidermolysis bullosa

description: Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.


acral dystrophic epidermolysis bullosa

description: Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


hearing loss, autosomal recessive

description: Autosomal recessive form of nonsyndromic deafness.


name: epidermolysis bullosa, junctional 4, intermediate


name: junctional epidermolysis bullosa inversa

description: Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.


name: late-onset junctional epidermolysis bullosa

description: Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


Affective Disorders, Psychotic

description: The manifestation of psychotic symptoms, such as hallucinations or delusions, in the presence of a mood disorder.


Atypical behavior

description: Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.


mental disorder

description: A disease that has its basis in the disruption of mental process.


Dysphoria

description: A state of feeling very unhappy, uneasy, or dissatisfied.


Interstitial pneumonitis

description: Inflammation of interstitial lung tissue, usually associated with infection.


name: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY


name: Leigh Syndrome Due To Mitochondrial Complex II Deficiency


name: Leigh Syndrome due to Mitochondrial Complex III Deficiency


name: Leigh Syndrome due to Mitochondrial Complex IV Deficiency


name: Leigh Syndrome due to Mitochondrial Complex V Deficiency


Dyskinesia

description: A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


Hemiballismus

description: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


Asterixis

description: A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.


Involuntary movements

description: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


persistent fetal circulation syndrome

description: A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.


name: Carbamoyl Phosphate Synthase 1 Deficiency


name: Central Nervous System Metabolic Disorders


name: Metabolic Disorder, Central Nervous System, Acquired


name: Acquired Metabolic Diseases, Nervous System


Methylmalonic aciduria

description: Increased concentration of methylmalonic acid in the urine.


name: acute myeloid leukemia with t(8;16)(p11;p13) translocation

description: A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.


Body Rocking

category: biolink:Behavior biolink:OntologyClass biolink:ActivityAndBehavior biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


Cushing syndrome

description: Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.


dysthymic disorder

description: A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.


Head-banging

description: Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


Spasmus nutans

description: Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


Precordial Catch Syndrome

description: A condition in which there is musculoskeletal chest pain characterized by brief, sharp discomfort associated with inspiration. (ACC/AHA)


inflammation of heart layer

description: An inflammatory disease involving a pathogenic inflammatory response in the heart layer.


ileocolitis

description: Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.