pulmonary edema

description: Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).


lipid pneumonia

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

description: Pneumonia due to aspiration or inhalation of various oily or fatty substances.


Mycoplasma pneumoniae pneumonia

description: Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.


lung superior sulcus carcinoma

description: A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.


newborn respiratory distress syndrome

description: A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


lung adenoma

description: A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.


desquamative interstitial pneumonia

description: A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.


follicular bronchiolits

description: A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


idiopathic interstitial pneumonia

description: A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).


Graham-Boyle-Troxell syndrome

description: Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.


cytomegalovirus pneumonia

description: Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.


name: alveolar capillary dysplasia with misalignment of pulmonary veins

description: A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.


lung abscess

description: A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.


name: bronchiolocentric pattern of interstitial pneumonia

description: An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.


malignant glomus tumor

description: A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.


pericytic neoplasm

description: A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


adult malignant hemangiopericytoma

description: A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

description: A hemangiopericytoma arising from the breast.


skin glomus tumor

description: A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.


hemangiopericytoma

description: An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.


cutaneous glomangioma

description: A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.


hemangiopericytoma, malignant

description: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.


hemangiopericytoma of skin

description: A hemangiopericytoma that involves the zone of skin.


myofibroma

description: A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


infantile myofibromatosis

description: A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


heart malignant hemangiopericytoma

description: A malignant hemangiopericytoma arising in the heart.


glomus tumor

description: A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.


myopericytoma

description: A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.


cutaneous glomangiomyoma

description: A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

description: A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.


telangiectatic glomangioma

description: A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

description: A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.


description: A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.


subungual glomus tumor

description: A glomus tumor arising in the finger and usually associated with pain.


kidney hemangiopericytoma

description: A hemangiopericytoma arising from the kidney.


glomangiomatosis

description: A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.


glomangioma

description: A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.


name: adult intracranial malignant hemangiopericytoma

description: A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.


myofibromatosis, infantile, 2

description: Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.


meninges hemangiopericytoma

description: A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.


retroperitoneal hemangiopericytoma

description: A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

description: A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.


myofibromatosis, infantile, 1

description: Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.


hemangiopericytic tumor

description: A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.


childhood malignant hemangiopericytoma

description: A malignant hemangiopericytoma occurring in childhood.


description: A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

description: A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.


benign perivascular tumor

description: A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


name: Blood pressure substantially higher in legs than arms

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

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


brachydactyly type A1

description: Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.


vaginismus

description: Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.


psychologic vaginismus

description: Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.


dermatoleukodystrophy

description: Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.


name: mitochondrial complex 1 deficiency, nuclear type 28


name: esophageal small cell neuroendocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.


name: effector-mediated suppression of host pattern-triggered immunity signaling

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

description: A process mediated by a molecule secreted by a symbiont that results in the suppression of a pattern-triggered immunity PTI signaling pathway. PTI signaling pathways are found in plants.


name: effector-mediated suppression of host innate immune response

description: A process mediated by a molecule secreted by a symbiont that results in the suppression of a host innate immune response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: effector-mediated suppression of host pattern-triggered immunity

description: A process mediated by a molecule secreted by a symbiont that results in the suppression of the innate immune response of the host organism via recognition of a microbe-associated molecular pattern. The innate immune response is the host's first line of defense against infection. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: polyglucosan body myopathy 1 with or without immunodeficiency

description: A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.


name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


myopathy caused by variation in FKTN

description: Any myopathy in which the cause of the disease is a variation in the FKTN gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

description: Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


name: autosomal recessive limb-girdle muscular dystrophy type 2M

description: A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


name: canine thyroid gland medullary carcinoma

description: Thyroid gland medullary carcinoma occurring in a dog.


name: isolated thyroid-stimulating hormone deficiency

description: Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.


Compensated hypothyroidism

description: Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).


central congenital hypothyroidism

description: Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.


congenital hypothyroidism

description: A thyroid hormone deficiency present from birth.


Primary hypothyroidism

description: A type of hypothyroidism that results from a defect in the thyroid gland.


name: isolated thyrotropin-releasing hormone deficiency

description: Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.


breast leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: Tessadori-van Haaften neurodevelopmental syndrome 1


name: Platinum-Sensitive Endometrial Serous Adenocarcinoma

description: An endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.


Ampulla of Vater Tubulovillous Adenoma

description: An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia.


Demyelinating sensory neuropathy

description: Demyelination of peripheral sensory nerves.


brain edema

description: Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)


name: Bracket epiphysis of the proximal phalanx of the 3rd toe


Schinzel-Giedion syndrome

description: Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.


name: tubulopapillary adenoma of extrahepatic bile duct

description: An adenoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tubular and papillary growth patterns.


Progressive congenital scoliosis

description: A progressive form of scoliosis with congenital onset.


name: congenital isolated adrenocorticotropic hormone deficiency

description: A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


Periodic fever

description: Episodic fever that recurs at regular intervals.


Quotidian fever

description: Fever that occurs at daily intervals.


name: Umbilical Hernia with Obstruction without Mention of Gangrene

description: The protrusion of contents of the abdominal cavity through the abdominal wall, at the site of the umbilicus, which results in obstruction, without mention of necrosis of the herniated contents.


name: Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

description: A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1::CREB1 fusion gene.


name: lymphoepithelioma-like acinar prostate adenocarcinoma

description: A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.


Sinonasal Tract Myxoma

description: A rare, benign, non-odontogenic tumor that arises from the sinonasal tract and occurs almost exclusively in children younger than three years old. It is a hypocellular tumor composed of spindle, stellate, or round cells in a myxoid stroma.


myxoma

description: A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


Ventricular myxoma

description: A cardiac myxoma arising from the ventricle.


Cutaneous myxoma

description: A myxoma originating in the skin.


Intramuscular Myxoma

description: A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.


Atrial myxoma

description: A cardiac myxoma arising from the atrium.


Ovarian Myxoma

description: A myxoma arising from the ovary.


Myxoma of the Endocardium

description: A myxoma arising from the endocardium.


Right atrial myxoma

description: A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

description: A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

description: A rare myxoma that usually arises in an area close to a large joint.  Morphologically it resembles a cellular myxoma.  In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene.


Follicular Myxoma

description: A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

description: A cardiac myxoma arising from the left atrium.


Cellular myxoma

description: An intramuscular myxoma with increased cellularity and increased numbers of collagen fibers and blood vessels.


macrocephaly-autism syndrome

description: An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.


neurofibroma of spinal cord

description: A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

description: Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.


name: transient erythroblastopenia of childhood

description: An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.


Abnormal coronary artery physiology

description: Any anomaly of the function of a coronary artery.


description: Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.


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 3 (AQ)

description: Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.


description: Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


name: Locally Advanced Lung Small Cell Carcinoma

description: Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: large B-cell diffuse lymphoma of lacrimal gland

description: A diffuse large B-cell lymphoma that arises from the lacrimal gland.


name: immune response in nasopharyngeal-associated lymphoid tissue

description: An immune response taking place in the nasopharyngeal-associated lymphoid tissue (NALT). NALT includes the tonsils and adenoids.


name: tolerance induction in nasopharyngeal-associated lymphoid tissue

description: Tolerance induction taking place in the nasopharyngeal-associated lymphoid tissue (NALT).


name: intellectual disability, autosomal dominant 39

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


dextrocardia

description: A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.


bone marrow disorder

description: Any disease of the bone marrow.


microcytic anemia

description: Anemia in which the red blood cell volume is decreased.


Amegakaryocytic thrombocytopenia

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


name: fetal and neonatal alloimmune thrombocytopenia

description: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


Hyperchromic macrocytic anemia

description: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.


Abnormal neutrophil count

description: A deviation from the normal range of neutrophil cell counts in the circulation.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


autoimmune thrombocytopenia

description: An autoimmune form of thrombocytopenia.


Infection associated neutropenia

description: Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


name: myelodysplastic syndrome with ring sideroblasts

description: Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


Anemia of inadequate production

description: A kind of anemia characterized by inadequate production of erythrocytes.


Transient neutropenia

description: A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


Cold-induced hemolysis

description: A form of hemolytic anemia that can be triggered by cold temperatures.


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


Abnormal granulocyte morphology

description: Any structural abnormality or abnormal count of granulocytes.


normocytic anemia

description: Anemia in which the red blood cell volume is normal.


hypochromic microcytic anemia

description: Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Diamond-Blackfan anemia

description: A congenital aregenerative and often macrocytic anemia with erythroblastopenia.


Hepatic mastocytosis

description: Liver mast cell infiltration.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


description: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Normochromic microcytic anemia

description: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


agranulocytosis

description: A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.


thrombocytosis disease

description: A disease characterized by higher than normal platelet counts in the peripheral blood.


hereditary elliptocytosis

description: Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


hemoglobinuria

description: A laboratory test result which indicates free hemoglobin in the urine.


Cerebral granulomatosis

description: Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


histiocytosis

description: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


Abnormal platelet count

description: Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.


Exercise-induced hemolysis

description: A form of hemolytic anemia that can be triggered by exertion.


paroxysmal nocturnal hemoglobinuria

description: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.


Abnormal granulocyte count

description: Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


hemolytic anemia

description: Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.


megaloblastic anemia

description: Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.


pseudolymphoma

description: A neoplastic process that resembles a malignant lymphoma, but has a benign course.


Neutrophil nuclear clefts

description: An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


name: myelodysplastic syndrome with single lineage dysplasia

description: A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.


malakoplakia

description: Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.


Transient erythroblastopenia

description: A transient reduction in the number of erythroblasts in the circulation.


xanthogranuloma

description: A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


Abnormal myeloid cell morphology

description: Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


name: Hyposegmentation of neutrophil nuclei in CSF

description: Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


Episodic hemolytic anemia

description: A form of hemolytic anemia that occurs in repeated episodes.


name: Increased red cell hemolysis by shear stress


sideroblastic anemia

description: A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.


description: A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.


Coombs-positive hemolytic anemia

description: A type of hemolytic anemia in which the Coombs test is positive.


sea-blue histiocyte syndrome

description: A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.


Abnormal microglia morphology

description: An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


Hypochromia

description: A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


name: Neutropenia in presence of anti-neutropil antibodies

description: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


Drug-sensitive hemolytic anemia

description: A form of hemolytic anemia that is triggered by ingestion of certain drugs.


hypochromic anemia

description: Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.


autoimmune hemolytic anemia

description: Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.


name: Anemia due to reduced life span of red cells

description: A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


Heinz body anemia

description: Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


Post-transfusion thrombocytopenia

description: Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Bone-marrow foam cells

description: The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.


pure red-cell aplasia

description: A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.


Abnormal mast cell morphology

description: Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


megaloblastic anemia, folate-responsive

description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


Spherocytosis

description: The presence of erythrocytes that are sphere-shaped.


methemoglobinemia

description: An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.


Chronic neutropenia

description: Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


cyclic hematopoiesis

description: A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


Abnormal neutrophil morphology

description: An abnormal form or size of neutrophils.


name: Hypersegmentation of neutrophil nuclei in CSF

description: An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


name: Abnormality of neutrophil morphology in CSF

description: An abnormal form or size of neutrophils in the cerebrospinal fluid.


Intermittent thrombocytopenia

description: Reduced platelet count that occurs sporadically, i.e., it comes and goes.


polycythemia

description: Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.


Steroid-responsive anemia

description: Amelioration of anemia upon treatment with a steroid medication.


name: Abnormality of multiple cell lineages in the bone marrow


Abnormal erythrocyte morphology

description: Any structural abnormality of erythrocytes (red-blood cells).


Increased urine neutrophil count

description: Abnormally increased count of neutrophils in urine.


Abnormal myeloid leukocyte morphology

description: An abnormality of myeloid leukocytes.


Abnormality of neutrophils

description: A neutrophil abnormality.


Fava bean-induced hemolytic anemia

description: A kind of hemolytic anemia that is induced by the ingestion of fava beans.


severe congenital neutropenia

description: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


hypereosinophilic syndrome

description: Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.


Abnormal platelet morphology

description: An anomaly in platelet form, ultrastructure, or intracellular organelles.


Pelger-Huet anomaly

description: An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.


Normocytic hypoplastic anemia

description: A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).


name: Cyclic neutropenia in myeloid maturation arrest in bone marrow

description: Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


primary myelofibrosis

description: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.


heparin-induced thrombocytopenia

description: Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.


pyuria

description: The presence of excessive white blood cells in the urine as determined by urinalysis.


pyropoikilocytosis, hereditary

description: An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


macrocytic anemia

description: Anemia that is characterized by increased red blood cell volume.


Hypoplastic anemia

description: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.


Anemic pallor

description: A type of pallor that is secondary to the presence of anemia.


familial hemolytic anemia

description: A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


Hemoglobin Barts

description: Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


Agranulocytosis

description: Marked decrease in the number of granulocytes.


description: A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.


Sterile pyuria

description: Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


name: Abnormal erythroid lineage cell morphology

description: An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


pancytopenia

description: A finding of low numbers of red and white blood cells and platelets in the peripheral blood.


conjunctival vascular disorder

description: A disorder of the vasculature of the cornea.


name: microphthalmia, isolated, with coloboma, non-human animal

description: Microphthalmia, isolated, with coloboma that occurs in non-human animals.


name: microphthalmia, isolated, with coloboma, dog

description: Microphthalmia, isolated, with coloboma that occurs in dog.


Fatty casts

description: A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


name: infiltrating bladder urothelial carcinoma sarcomatoid variant

description: An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.


name: infiltrating bladder urothelial carcinoma

description: An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


name: lymphoma-like variant infiltrating bladder urothelial carcinoma


name: plasmacytoid variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.


name: microcystic variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by microcysts formation.


name: infiltrating bladder urothelial carcinoma, clear cell variant

description: An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


name: nested variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by a nested growth pattern.


name: micropapillary variant infiltrating bladder urothelial carcinoma

description: An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


name: infiltrating bladder lymphoepithelioma-like carcinoma

description: Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.


name: lipid-cell variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


Angina pectoris

description: Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.


Prinzmetal angina

description: A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.


Heart murmur

description: An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.


intermediate coronary syndrome

description: Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.


Palpitations

description: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.


AIDS-Related Enterocolitis

description: Enterocolitis associated with the AIDS virus.


Invasive Tubular Urothelial Carcinoma

description: Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern.


name: Invasive Bladder Tubular Urothelial Carcinoma

description: Invasive bladder urothelial carcinoma characterized the presence of a tubular growth pattern.


infective endocarditis

description: Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


endocarditis

description: Inflammation of the endocardium.


mycotic endocarditis

description: An endocarditis (disease) caused by infection with Fungi.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

description: Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


subacute bacterial endocarditis

description: Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


bacterial endocarditis

description: Endocarditis that is caused by an infection with a bacterial agent.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


Limitation of neck motion

description: Limited mobility of the neck, usually accompanied by pain.


vitamin D-dependent rickets, type 1

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

description: Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


Periodic hypokalemic paresis

description: Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

description: Episodes of muscle weakness.


hyperkalemic periodic paralysis

description: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


hypotrichosis 3

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


name: stimulatory C-type lectin receptor signaling pathway

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

description: The series of molecular signals initiated by the binding of C-type lectin to its receptor on the surface of a target cell, and resulting in cellular activation.


complement activation, lectin pathway

description: Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes.


name: complement activation, classical pathway

description: Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes.


complement activation

description: Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway.


activation of membrane attack complex

description: The activation of the membrane attack complex components of the complement cascade which can result in death of a target cell through cytolysis.


name: complement activation, alternative pathway

description: Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

description: Keratoconjunctivitis resulting from infection by adenoviruses.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

description: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

description: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


Bilateral alveolar cleft of maxilla

description: Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


name: Incomplete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

description: Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

description: A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

description: Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


cervical polyp

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


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


sterol biosynthesis disorder

description: An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


Greenberg dysplasia

description: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

description: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

description: X-linked form of chondrodysplasia punctata.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

description: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


Smith-Lemli-Opitz syndrome

description: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


name: cholesterol biosynthetic process disease

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


name: hyperimmunoglobulinemia D with periodic fever

description: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


name: Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

description: The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery


name: xeroderma pigmentosum, autosomal dominant, mild


name: neuronopathy, distal hereditary motor, type 5A


name: schmid metaphyseal chondrodysplasia dwarfism, pig

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in pig.


Pfeiffer syndrome type 3

description: Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


Pfeiffer syndrome type 2

description: Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

description: Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


3p- syndrome

description: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


name: partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

description: A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


name: Small intestinal lymphoplasmacytic infiltrate

description: Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


name: severe X-linked mitochondrial encephalomyopathy

description: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


exostosis

description: Non-neoplastic overgrowth of bone.


Heberden's node

description: Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


name: bilateral acute depigmentation of the iris

description: Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


Childhood Small Intestinal Carcinoma

description: A small intestinal carcinoma occurring in childhood.


name: Childhood Malignant Small Intestinal Neoplasm

description: A rare malignant small intestinal neoplasm that occurs during childhood.


name: Childhood Small Intestinal Leiomyosarcoma

description: A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

description: Lack of subcutaneous adipose tissue.


name: Loss of truncal subcutaneous adipose tissue

description: Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.


host-seeking behavior

description: The specific behavior of an organism that are associated with finding a host organism; may include behavioral responses to light, temperature, or chemical emanations from the prospective host.


name: combined oxidative phosphorylation defect type 9

description: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


name: Hyperinsulinism in the Infant of a Diabetic Mother

description: Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


description: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


Complete Hearing Loss

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


milk ejection reflex

description: A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness.


name: histamine secretion mediated by immunoglobulin

description: Histamine release triggered by the binding of an antigen to an immunoglobulin bound to the cell surface.


name: mRNA export from nucleus in response to heat stress

description: The directed movement of mRNA from the nucleus to the cytoplasm during a heat stimulus, a temperature stimulus above the optimal temperature for the organism; in particular, a process that enables an organism withstand exposure to temperatures that would otherwise lethally impair poly(A)+ mRNA-nucleus export.


name: histamine secretion mediated by IgE immunoglobulin

description: Histamine release triggered by the binding of an antigen to an IgE immunoglobulin bound to the cell surface. An example is mast cell histamine degranulation as a result of exposure of mast cell-bound IgE to alder tree pollen.


cellular response to micafungin

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a micafungin stimulus.


response to micafungin

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a micafungin stimulus.


acinar prostate mucinous adenocarcinoma

description: A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.


malignant struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


teratoma with malignant transformation

description: A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


CAMOS syndrome

description: CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.


sebaceous basal cell carcinoma

description: A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.


enterotoxemia

description: Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.


Mitral valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the mitral valve.


Cleft anterior mitral valve leaflet

description: Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.


Supramitral ring

description: A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.


Mitral annular calcification

description: Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


Mitral chordae tendinae rupture

description: Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.


name: Short chordae tendineae of the mitral valve

description: Abnormally short chordae tendineae of the mitral valve.


mitral atresia disorder

description: A congenital heart defect characterized by the complete atresia of the mitral valve.


name: Abnormal mitral valve annulus morphology

description: Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Myxomatous mitral valve degeneration

description: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.


Mitral valve arcade

description: Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.


congenital mitral stenosis

description: Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.


name: Abnormal mitral valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.


Mitral valve calcification

description: Abnormal calcification of the mitral valve.


name: Abnormal morphology of the chordae tendinae of the mitral valve

description: A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.


Parachute mitral valve

description: Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.


Dilatation of the mitral annulus

description: An increase in the diameter of the ring (annulus) of the mitral valve.


mitral valve stenosis

description: Narrowing of the left atrioventricular mitral orifice.


Abnormal mitral valve morphology

description: Any structural anomaly of the mitral valve.


double-orifice mitral valve

description: The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.


Thickened mitral valve cusp

description: An abnormally increased thickness of a leaflet of the mitral valve.


name: Elongated chordae tendinae of the mitral valve

description: Abnormal increased in length of the chordae tendinae of the mitral valve.


testicular seminoma

description: A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


tubular variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.


name: pseudoglandular variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.


spermatocytic seminoma

description: A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.


cribriform variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.


name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression


Oral Cavity Fistula

description: An abnormal communication between the oral cavity and the adjacent tissues.


Orocutaneous fistula

description: An abnormal communication between the skin and the oral cavity.


Segmental peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.


name: Patchy demyelination of subcortical white matter

description: Patchy loss of myelin from nerve fibers in the central nervous system.


name: Symmetrical progressive peripheral demyelination

description: A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


name: Diffuse demyelination of the cerebral white matter

description: A diffuse loss of myelin from nerve fibers in the central nervous system.


description: A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.


Symmetric peripheral demyelination

description: A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Asymmetric peripheral demyelination

description: Loss of myelin from peripheral nerves in a pattern that differs between right and left.


name: Spinal cord posterior columns myelin loss


Cerebral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.


Decreased dendritic spine number

description: An abnormal reduction in the amount of spines on a given dendrite.


Abnormal neuron branching

description: Abnormality of the structure and branching of the dendrites of a neuron.


CNS demyelination

description: A loss of myelin from nerve fibers in the central nervous system.


Diffuse peripheral demyelination

description: A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


name: Severe demyelination of the white matter

description: A severe loss of myelin from nerve fibers in the central nervous system.


Peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Sensory axonal neuropathy

description: An axonal neuropathy of peripheral sensory nerves.


Stage II Urethral Cancer AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Urethral Cancer by AJCC v7 Stage

description: A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 7th edition.


Stage I Urethral Cancer AJCC v7

description: Stage I includes: T1, N0, M0.  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Urethral Cancer AJCC v7

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0); (Tis pu, N0, M0); (Tis pd, N0, M0).  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  Tis: Carcinoma in situ.  Tis pu: Carcinoma in situ, involvement of the prostatic urethra.  Tis pd: Carcinoma in situ, involvement of the prostatic ducts.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


carcinoma in situ of urethra

description: A in situ carcinoma that involves the urethra.


Stage IV Urethral Cancer AJCC v7

description: Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0), (Any T, Any N, M1).  T4: Tumor invades other adjacent organs.  N0: No regional lymph node metastasis.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N2: Metastasis in a single lymph node more than 2 cm in greatest dimension, or in multiple lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage 0a Urethral Cancer AJCC v7

description: Stage 0a includes: Ta, N0, M0.  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage III Urethral Cancer AJCC v7

description: Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0), (T3, N1, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  T3: Tumor invades any of the following: corpus cavernosum, beyond prostatic capsule, anterior vagina, bladder neck.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Gallbladder Undifferentiated Carcinoma, Spindle and Giant Cell Type

description: An undifferentiated carcinoma that arises from the gallbladder.  It is characterized by the presence of spindle and giant malignant cells, including osteoclast-like giant cells.


description: A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.


Optic ataxia

description: Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.


Bruising susceptibility

description: An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.


Aplastic nasopharyngeal adenoids

description: Absence of the nasopharyngeal adenoids as a developmental defect.


name: chondrodysplasia punctata, brachytelephalangic, autosomal


name: autosomal dominant chondrodysplasia punctata

description: Autosomal dominant form of chondrodysplasia punctata.


name: chondrodysplasia punctata, tibial-metacarpal type


invasive growth in response to heat

description: The growth of colonies in filamentous chains of cells as a result of an increase in temperature.


name: filamentous growth of a population of unicellular organisms in response to neutral pH

description: The process in which a group of unicellular organisms grow in a threadlike, filamentous shape in response to a neutral pH (pH close to 7) stimulus.


name: filamentous growth of a population of unicellular organisms in response to starvation

description: The process in which a group of unicellular organisms grow in a threadlike, filamentous shape in response to deprivation of nourishment.


name: collateral sprouting of intact axon in response to injury

description: The process in which outgrowths develop from the axons of intact undamaged neurons as a result of injury to an axon. The collateral sprouts typically appear from undamaged axons in a tissue which has had part of its nerve supply removed, and they can often innervate successfully any cells that have lost some or all of their original synaptic input.


name: filamentous growth of a population of unicellular organisms in response to heat

description: The process in which a group of unicellular organisms grow in a threadlike, filamentous shape in response to an increase in temperature.


name: filamentous growth of a population of unicellular organisms in response to biotic stimulus

description: The process in which a group of unicellular organisms grow in a threadlike, filamentous shape in response to a biotic (living) stimulus.


name: filamentous growth of a population of unicellular organisms in response to pH

description: The process in which a group of unicellular organisms grow in a threadlike, filamentous shape in response to a pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution.


name: invasive growth in response to abiotic stimulus

description: The growth of colonies in filamentous chains of cells as a result of a abiotic stimulus. An example of this process is found in Candida albicans.


name: invasive growth in response to biotic stimulus

description: The growth of colonies in filamentous chains of cells as a result of a biotic stimulus. An example of this is Candida albicans forming invasive filaments in agar medium in response to a serum stimulus.


Broad hallux phalanx

description: An increase in width in one or more phalanges of the big toe.


Broad metatarsal

description: Increased side-to-side width of a metatarsal bone.


Broad first metatarsal

description: Increased side-to-side width of the first metatarsal bone.


Broad distal phalanx of the hallux

description: An increase in width of the distal phalanx of the big toe.


Bulbous tips of toes

description: An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.


Broad phalanx of the toes

description: Increased width of phalanx of one or more toes.


Broad proximal phalanx of the hallux

description: Increased width of proximal phalanx of big toe.


Broad proximal phalanx of toe

description: An increase in width of one ore more proximal toe phalanges.


Broad distal phalanx of the toes

description: Increased width of the distal phalanx of toe of one or more toes.


Abnormal sixth cranial nerve morphology

description: Any structural abnormality of the abducens nerve.


abducens nerve disorder

description: A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).


Sixth cranial nerve hypoplasia

description: Underdevelopment of the six cranial nerve (abducens nerve).


hemoglobin D disease

description: Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).


Pseudoseizure

description: Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.


functioning pituitary gland neoplasm

description: A hormone producing pituitary gland tumor, associated with a hormonal syndrome.


TSH producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.


TSH-secreting pituitary adenoma

description: A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.


functioning pituitary gland adenoma

description: A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.


Nelson syndrome

description: A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.


name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.


name: Cushing disease due to pituitary adenoma

description: Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.


functioning gonadotropic adenoma

description: Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).


name: Stage II Acral Lentiginous Melanoma AJCC v6 and v7

description: Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0).  T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration.  T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration.  T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration.  T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration.  T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration.  N0: No regional lymph node metastases.  M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)


name: progressive relapsing multiple sclerosis

description: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


hepatic vein thrombosis

description: A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.


fever generation

description: The heat generation process that results in a rise in body temperature above the normal, often as a response to infection.


name: Metastatic Malignant Neoplasm to the Thyroid

description: A malignant neoplasm either directly extending to the thyroid gland from adjacent structures (e.g. pharynx, larynx, esophagus, cervical lymph nodes), or spreading to the thyroid gland from distant anatomic sites, most frequently kidney, lung, uterus, breast, and skin.  The majority of cases are carcinomas, lymphomas, and melanomas.


Metastatic malignant neoplasm to neck

description: A malignant neoplasm that has spread to the neck region from a malignancy in a local or distant anatomic site.


name: Metastatic malignant neoplasm to parathyroid gland

description: A malignant neoplasm either directly extending to the parathyroid glands from adjacent anatomic structures, or spreading to the parathyroid glands from distant anatomic sites, most frequently breast, lung, kidney, soft tissues, and skin.


name: Metastatic malignant neoplasm to nasopharynx

description: A malignant neoplasm that has spread to the nasopharynx from another anatomic site.


name: Metastatic malignant neoplasm to oropharynx

description: A malignant neoplasm that has spread to the oropharynx from another anatomic site.


name: Metastatic malignant neoplasm to hypopharynx

description: A malignant neoplasm that has spread to the hypopharynx from another anatomic site.


Metastatic malignant neoplasm to larynx

description: A malignant neoplasm that has spread to the larynx from another anatomic site.


name: Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that has metastasized to the neck lymph nodes from an unknown primary anatomic site.


name: Recurrent Neck Squamous Cell Carcinoma of Unknown Primary

description: The reemergence of metastatic squamous cell carcinoma of unknown primary in the neck region after a period of remission.


name: Metastatic malignant neoplasm to pharynx

description: A malignant neoplasm that has spread to the pharynx from another anatomic site.


name: Human Papillomavirus-Related Head and Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that is associated with human papillomavirus infection and has metastasized to the neck lymph nodes from an unknown primary anatomic site.


name: Human Papillomavirus-Negative Head and Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that is not associated with human papillomavirus infection and has metastasized to the neck lymph nodes from an unknown primary anatomic site.


Verruca plana

description: Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.


Hypoplastic iris stroma

description: Underdevelopment of the stroma of iris.


Brown-Vialetto-van Laere syndrome 1

description: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.


intravascular fasciitis

description: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


name: Stage IV Major Salivary Gland Carcinoma with Metastasis

description: Stage IV carcinoma of the major salivary glands with regional lymph nodes and/or distant metastases.


Cervical Micropapillary Adenocarcinoma

description: A rare, invasive adenocarcinoma that arises from the cervix and is characterized by a micropapillary architecture.


name: Pathologic Stage IVB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IVB includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)


name: Gastroesophageal Junction Adenocarcinoma by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IIIB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIIB includes: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IA includes: (T1a, N0, M0, G1); (T1a, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)


name: Pathologic Stage IIIA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIIA includes: (T1, N2, M0, Any G); (T2, N1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0, GN/A. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)


name: Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIA includes: (T2, N0, M0, G3); (T2, N0, M0, GX). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage I includes: IA: (T1a, N0, M0, G1); (T1a, N0, M0, GX); IB: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX); IC: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage II includes: IIA: (T2, N0, M0, G3); (T2, N0, M0, GX); IIB: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0, Any G); (T2, N1, M0, Any G); IIIB: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IC includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IVA includes: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIB includes: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)