Developmental Finding

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

description: Symptoms, physical examination results, and/or laboratory test results related to physical, emotional, behavioral, or social development.


name: Periventricular Hemorrhage of the Newborn

description: Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of newborn infant.


name: Small for Gestational Age for Weight and Length

description: Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


Small for Gestational Age for Weight

description: Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


Infantile Colic

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

description: Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.


name: Small for Gestational Age with Failure of Catch-Up Growth

description: A condition in which a child who was born small for gestational age, fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population.


Newborn or Infant Finding

description: Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant.


name: Intraventricular (nontraumatic) hemorrhage, grade 1, of fetus and newborn

description: Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn.


Small for Gestational Age for Length

description: Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


name: Intraparenchymal Hemorrhage of the Newborn

description: Bleeding into the brain tissue of a newborn infant.


RD3-related retinopathy

description: Any retinopathy caused by variants in the RD3 gene.


Leber congenital amaurosis 12

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 14


name: autoinflammation with arthritis and dyskeratosis


name: Resectable Adenocarcinoma of Unknown Primary

description: An adenocarcinoma of unknown primary that is amenable to surgical resection.


Resectable Carcinoma of Unknown Primary

description: A carcinoma of unknown primary that is amenable to surgical resection.


secretory meningioma

description: A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.


Red cell adenylate kinase deficiency

description: An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.


name: anemia due to erythrocyte enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.


name: glycogen storage disease due to phosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


Deficiency of hexokinase (disorder)

description: A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.


Glucose phosphate isomerase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.


Deficiency of enolase

description: A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.


triosephosphate isomerase deficiency

description: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


name: hemolytic anemia due to diphosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


name: Uridine monophosphate hydrolase deficiency

description: An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.


composite hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.


Intermediate Vascular Neoplasm

description: A vascular neoplasm with borderline malignant potential.


retiform hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.


kaposiform hemangioendothelioma

description: Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


name: Endovascular papillary angioendothelioma of childhood

description: A papillary intralymphatic angioendothelioma that occurs during childhood.


name: Intermediate (Locally Aggressive) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that has locally aggressive behavior.


name: Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs.  In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal.  Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei.  Cytologic atypia is usually mild.  Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.


name: Intermediate (Rarely Metastasizing) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that may metastasize on rare occasions.


Intermediate Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.


description: A pseudomyogenic hemangioendothelioma that occurs during childhood.


description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.


description: A kaposiform hemangioendothelioma that occurs during childhood.


Polymorphus Hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.


mild ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


Hemolymphangioma

description: A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.


name: Stage IIIA Childhood Testicular Germ Cell Tumor by Toronto Guidelines v2

description: Any pT, Any N, M1, S0, S1. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


chilblain lupus 1

description: Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


chronic cutaneous lupus erythematosus

description: Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.


name: hypertrophic or verrucous lupus erythematosus


familial chilblain lupus

description: An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.


lupus erythematosus panniculitis

description: A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.


chilblain lupus 2

description: Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


chilblain lupus

description: A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.


Angelucci syndrome

description: Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.


acute conjunctivitis

description: Acute inflammation of the conjunctiva.


acute contagious conjunctivitis

description: Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


Pancreatic Serous Adenoma

description: A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas.  It is composed of glycogen-rich epithelial cells which produce a watery fluid.  Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.


name: Pancreatic Macrocystic Serous Cystadenoma

description: A benign, non-metastasizing epithelial neoplasm arising from the exocrine pancreas.  It is characterized by the presence of a few large cysts and is composed of glycogen-rich epithelial cells which produce a watery fluid.


Pancreatic Solid Serous Adenoma

description: A well-circumscribed serous adenoma that is solid and lacks cystic changes.


name: Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma

description: A serous adenoma that develops in a patient with Von Hippel-Lindau syndrome.  Usually there are multiple serous adenomas present of the macrocystic type.


name: Locally Advanced Gastrointestinal Stromal Tumor

description: Gastrointestinal stromal tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Gastrointestinal Stromal Tumor

description: Gastrointestinal stromal tumor which has spread from its original site of growth to another anatomic site.


Advanced Gastrointestinal Stromal Tumor

description: A gastrointestinal stromal tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: mitochondrial complex 1 deficiency, nuclear type 16


name: cellular response to N-acetyl-D-glucosamine

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

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 an N-acetyl-D-glucosamine stimulus.


response to N-acetyl-D-glucosamine

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 an N-acetyl-D-glucosamine stimulus.


response to chondroitin 6'-sulfate

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 chondroitin 6'-sulfate stimulus.


name: cellular response to chondroitin 6'-sulfate

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 chondroitin 6'-sulfate stimulus.


Vaginal Blue Nevus

description: A neoplasm that arises from the vagina and is characterized by the proliferation of subepithelial benign dendritic melanocytes.


name: chronic intervillositis of unknown etiology


Charcot-Marie-Tooth disease type 2B

description: Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


PIGA Deficiency

description: An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).


name: nystagmus 3, congenital, autosomal dominant


spondylo-ocular syndrome

description: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


name: neurological muscular channelopathy due to a genetic chloride channel defect


Solid Cystic Hidradenoma

description: A hidradenoma characterized by the presence of solid lobular neoplastic cell proliferations and cystic spaces filled with homogeneous eosinophilic material.


Acute Thymic Involution

description: The sudden shrinking and/or complete disappearance of the thymus gland; this often happens as a response to a physiologic stressor, such as infection or malnutrition.


factor XIII deficiency, cattle

description: Factor XIII deficiency that occurs in cattle.


juvenile open angle glaucoma

description: Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


glaucoma 1, open angle, O

description: Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.


OPTN-related open angle glaucoma

description: Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.


glaucoma 1, open angle, A

description: Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.


name: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

description: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.


name: persistent polyclonal B-cell lymphocytosis

description: Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.


Multinodular Adrenal Hyperplasia

description: A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules.


cellular response to red light

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 red light stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.


response to red light

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 red light stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.


response to photoperiod, red light

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 red light photoperiod stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm.


name: response to very low fluence red light stimulus

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 very low fluence red light stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm. Very low fluence red light is defined in this case as short pulses of red light followed by darkness, providing light levels of less than 0.001 mmol/m2/sec.


red light 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 upon sensing of red light by a photoreceptor molecule. Red light is electromagnetic radiation of wavelength of 580-700nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.


name: response to low fluence red light stimulus

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 low fluence red light stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm. Low fluence red light is defined in this case as short pulses of red light followed by darkness, providing a light level of 0.001-0.1 mmol/m2/sec.


Vulvar Alveolar Rhabdomyosarcoma

description: An extremely rare malignant mesenchymal neoplasm of the vulva exhibiting skeletal muscle differentiation with an alveolar pattern.


ovarian lymphoma

description: A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


name: CYP1B1-related glaucoma with or without anterior segment dysgenesis

description: Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.


name: Unresectable Digestive System Mixed Adenoneuroendocrine Carcinoma

description: Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.


juvenile polymyositis

description: An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


name: Advanced Pancreatic Neuroendocrine Tumor

description: A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Pancreatic neuroendocrine tumor metastatic

description: A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.


name: Advanced Pancreatic Neuroendocrine Tumor G1

description: Pancreatic neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Metastatic Pancreatic Neuroendocrine Tumor G3

description: Panreatic neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Pancreatic Neuroendocrine Tumor G3

description: Pancreatic neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Pancreatic Neuroendocrine Tumor G1

description: Pancreatic neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Pancreatic Neuroendocrine Tumor

description: A pancreatic neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


puerperal disorder

description: Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.


puerperal infection

description: An infection occurring in puerperium, the period of 6-8 weeks after giving birth.


postpartum psychosis

description: Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.


serous cystadenofibroma

description: A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.


uterine corpus apoplectic leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.


ovarian clear cell adenofibroma

description: An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.


fibroma of prostate

description: A fibroma that involves the prostate gland.


uterine corpus cellular leiomyoma

description: A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


oral fibroma

description: A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.


uterine corpus bizarre leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.


uterine corpus dissecting leiomyoma

description: A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.


uterine corpus adenofibroma

description: A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.


testicular fibroma

description: A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.


ovarian clear cell cystadenofibroma

description: A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.


cystadenofibroma

description: A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.


adenofibroma

description: A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.


clear cell adenofibroma

description: A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


ovarian endometrioid cystadenofibroma

description: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.


uterine corpus diffuse leiomyomatosis

description: An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.


rete ovarii cystadenofibroma

description: An exceptionally rare cystadenofibroma that arises from the rete ovarii.


ovarian serous adenofibroma

description: A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.


uterine corpus lipoleiomyoma

description: A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.


serous adenofibroma

description: A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.


papillary adenofibroma

description: A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.


tendon sheath fibroma

description: A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


fallopian tube serous adenofibroma

description: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.


uterine corpus myxoid leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.


uterine corpus epithelioid leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.


clear cell cystadenofibroma

description: A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.


calcified aponeurotic fibroma

description: A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.


ovarian serous cystadenofibroma

description: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


fallopian tube cystadenofibroma

description: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.


name: spastic paraplegia, intellectual disability, nystagmus, and obesity


name: paraparetic variant of Guillain-Barre syndrome

description: Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.


syringomyelia, horse

description: Syringomyelia that occurs in horse.


chronic dacryocystitis

description: Chronic form of dacryocystitis.


name: Recurrent Prostate Acinar Adenocarcinoma

description: The reemergence of prostate acinar adenocarcinoma after a period of remission.


Prostate cancer recurrent

description: Prostate carcinoma reemerging after a period of remission.


name: Adenocarcinoma of the prostate recurrent

description: The reemergence of prostate adenocarcinoma after a period of remission.


name: Recurrent Prostate Small Cell Neuroendocrine Carcinoma

description: The reemergence of prostate small cell neuroendocrine carcinoma after a period of remission.


name: Biochemically Recurrent Prostate Carcinoma

description: Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.


name: multiple congenital anomalies-hypotonia-seizures syndrome


name: developmental and epileptic encephalopathy, 77


name: multiple congenital anomalies-hypotonia-seizures syndrome 3

description: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


name: multiple congenital anomalies-hypotonia-seizures syndrome 2

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


Cranial Nerve II Palsy

description: Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

description: A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

description: A congenital abnormality characterized by the underdevelopment of one optic nerve.


cellular response to inositol

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 an inositol stimulus.


cataract 33

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


name: immunodeficiency, developmental delay, and hypohomocysteinemia


Multiple Solitary Plasmacytoma of Bone

description: The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.


ovarian microcystic stromal tumor

description: A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.


benign ovarian sex cord-stromal tumor

description: A sex cord-stromal tumor arising from the ovary, without metastatic potential.


ovarian fibrothecoma

description: A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).


phyllodes tumor

description: A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


prostate phyllodes tumor

description: An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.


Borderline Vulvar Phyllodes Tumor

description: A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

description: A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.


Refractory Malignant Phyllodes Tumor

description: Malignant phyllodes tumor that is resistant to treatment.


name: Phyllodes Tumor of Anogenital Mammary-Type Glands

description: A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.


Malignant Vulvar Phyllodes Tumor

description: A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

description: A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.


malignant phyllodes tumor

description: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


Benign Vulvar Phyllodes Tumor

description: A rare benign phyllodes tumor arising from the vulva.


Childhood Breast Phyllodes Tumor

description: A phyllodes tumor that arises from the breast and occurs during childhood.


Vulvar Phyllodes Tumor

description: A rare benign, borderline, or malignant phyllodes tumor arising from the vulva.


Borderline phyllodes tumor

description: A phyllodes tumor with morphologic characteristics which are intermediate between a benign and a malignant phyllodes tumor. The stromal sarcomatous changes are of low grade and are often reminiscent of low grade fibrosarcomas.


malignant prostate phyllodes tumor

description: An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.


name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


name: paternal uniparental disomy of chromosome 7

description: Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).


spindle cell neoplasm

description: A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.


ciliary body spindle cell melanoma

description: A spindle cell melanoma that involves the ciliary body.


spindle cell lipoma

description: A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.


iris spindle cell melanoma

description: A spindle cell melanoma that involves the iris.


desmoplastic melanoma

description: A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


malignant spindle cell neoplasm

description: A malignant neoplasm characterized by the presence of atypical spindle cells.


spindle cell melanoma

description: A melanoma characterized by the presence of malignant spindle-shaped melanocytes.


spindle cell intraocular melanoma

description: A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.


name: Complex Endometrial Hyperplasia with Atypia

description: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures.  It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.


name: Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

description: A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region.  It produces serotonin.


gonococcal cystitis

description: An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

description: Acute form of gonococcal cystitis.


CLAPO syndrome

description: CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).


non-syndromic syndactyly

description: A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.


syndactyly type 5

description: Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


non-syndromic synpolydactyly

description: A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

description: Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


syndactyly type 1

description: Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.


name: mesoaxial synostotic syndactyly with phalangeal reduction

description: Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


syndactyly type 6

description: Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.


syndactyly type 4

description: A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


syndactyly type 8

description: Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


synpolydactyly type 2

description: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


syndactyly type 3

description: Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


name: familial avascular necrosis of femoral head

description: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


name: Advanced Malignant Small Intestinal Neoplasm

description: A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Malignant neoplasm of small intestine, incl duodenum metastatic

description: A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Small Intestinal Carcinoma

description: Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.


name: Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

description: A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Small intestine adenocarcinoma metastatic

description: An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.


name: Advanced Small Intestinal Neuroendocrine Carcinoma

description: A small intestinal neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Small Intestinal Adenocarcinoma

description: Small intestinal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

description: A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine carcinoma metastatic

description: A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.


name: Metastatic Small Intestinal Neuroendocrine Carcinoma

description: A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


myopathy caused by variation in GMPPB

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


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


name: COX deficiency, benign infantile mitochondrial myopathy

description: A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.


cytochrome-c oxidase deficiency disease

description: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


name: ENSAT Stage III Adrenal Cortical Carcinoma

description: Stage III includes: T3/T4, N0/N1, M0.  Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)


name: Adrenal Cortical Carcinoma by ENSAT Stage

description: A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT).


name: ENSAT Stage I Adrenal Cortical Carcinoma

description: Stage I includes: T1, N0, M0.  Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues.  (ENSAT 7th Ed, 2009)


name: ENSAT Stage II Adrenal Cortical Carcinoma

description: Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)


name: ENSAT Stage IV Adrenal Cortical Carcinoma

description: Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)


name: renal hypoplasia, unilateral, non-human animal

description: Renal hypoplasia, unilateral that occurs in non-human animals.


renal hypoplasia, unilateral, pig

description: Renal hypoplasia, unilateral that occurs in pig.


name: Open fracture of carpal bone, unspecified

description: A traumatic break in one or more of the carpal bones that  involves a break in the adjacent skin.


Closed fracture of carpal bone

description: A traumatic break in one or more of the carpal bones  that does not involve a break in the adjacent skin.


name: trichorhinophalangeal syndrome, type III

description: A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.


name: round cell sarcoma with EWSR1-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.


urolithiasis, pig

description: Urolithiasis that occurs in pig.


name: autosomal dominant nonsyndromic hearing loss 65

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


Probable Acute COVID-19 Case

description: A presumed acute COVID-19 infection as evidenced by detection of SARS-CoV-2 by antigen test in a respiratory specimen, by meeting clinical criteria and epidemiological linkage criteria for COVID-19 with no confirmatory laboratory testing performed, or by a death certificate that lists COVID-19 disease or SARS-CoV-2 as an underlying cause of death or a significant condition contributing to death with no confirmatory laboratory evidence of SARS-CoV-2.


Coronavinae infectious disease

description: Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).


name: Pulmonary Thromboembolic Disease Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Intravascular migration of a venous embolus to the pulmonary arterial circulation, microvascular thrombosis in the pulmonary capillaries, or pulmonary artery thrombus in situ diagnosed by a positive pulmonary angiogram, an unequivocally positive helical CT scan, a high-probability ventilation-perfusion scan, or autopsy that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Post-Acute Cardiovascular Sequelae of COVID-19

description: Cardiovascular sequelae persisting weeks or months after SARS-CoV-2 infection.


name: Supraventricular Tachyarrhythmia Other than Atrial Fibrillation or Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Supraventricular tachycardia other than atrial fibrillation or atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Reduced left ventricular function with less than 50% ejection fraction in a patient with history of suspected or confirmed myocardial ischemia or acute coronary syndrome (ACS) that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


long COVID-19

description: A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.


name: Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Symptomatic COVID-19 Infection Laboratory-Confirmed

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.


name: Pericarditis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Pericarditis that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Confirmed Acute COVID-19 Case

description: An acute COVID-19 infection that is verified by detection of SARS-CoV-2 RNA in a clinical or autopsy specimen using a molecular amplification test (e.g., RT-PCR).


name: Pericardial Effusion Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Pericardial effusion that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Atrial Fibrillation Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Atrial fibrillation in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Severe COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized, requires respiratory support, and may also require additional organ support including vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation. (based on WHO COVID-19 Disease Severity 5, 6 and 7)


name: Asymptomatic COVID-19 Infection Laboratory-Confirmed

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.


Middle East respiratory syndrome

description: A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


name: Cardiac Structural Abnormalities Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Cardiac structural changes or abnormalities characterized by myocardial systolic dysfunction or myocardial edema or fibrosis on non-invasive cardiac imaging that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: New-onset Heart Failure Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: New onset of heart failure with a clinical syndrome of dyspnea, fatigue, fluid retention/peripheral edema that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Suspected Acute COVID-19 Case

description: A likely acute COVID-19 infection as evidenced by detection of specific antibody in serum, plasma, or whole blood, or detection of specific antigen by immunocytochemistry in an autopsy specimen.


name: Prior COVID-19 Infection With Residual Sequelae of Post-Acute COVID-19

description: A finding indicating that there is prior evidence of COVID-19 in an individual who has residual sequelae of post-acute COVID-19.


Moderate COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized and may require oxygen therapy. (based on WHO COVID-19 Disease Severity 3 and 4)


name: Prior COVID-19 Infection Without Residual Sequelae of Post-Acute COVID-19

description: A finding indicating that there is prior evidence of COVID-19 in an individual who has no residual sequelae of post-acute COVID-19.


Mild COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is still ambulatory but may have limitation of their activities. (based on WHO COVID-19 Disease Severity 1 and 2)


name: Neurovascular Disorder Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: A disorder of the nervous system related to a vascular etiology that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Deep Venous Thrombosis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Formation of multiple thrombi in the large veins of the body, diagnosed with Doppler ultrasound, occurring most frequently in lower extremities or upper extremities, that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


COVID Reinfection

description: A new, discrete episode of acute COVID-19 in an individual with a prior history of probable/confirmed COVID-19.


name: Non-Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Reduced left ventricular function with less than 50% ejection fraction but without evidence of myocardial ischemia that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Current Seasonal Coronavirus Infection

description: Seasonal coronavirus infection is evident at the time of testing.


Prior COVID-19 Infection

description: A finding indicating that there is prior evidence of COVID-19 in an individual who is no longer in the infectious period.


chromosome Y disorder

description: Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

description: Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


spermatogenic failure, Y-linked, 2

description: A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


48,XYYY syndrome

description: 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


partial chromosome Y deletion

description: Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.


ring chromosome Y

description: Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.


49,XYYYY syndrome

description: 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.


isochromosomy Yp

description: Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


name: Pancreatic Well Differentiated Ductal Adenocarcinoma

description: A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.


Stage M3 Pineoblastoma

description: Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


cellular response to iron(II) ion

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 an iron(II) ion stimulus.


dysthymic disorder

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


Childhood Cutaneous Melanoma

description: A rare melanoma of the skin that occurs during childhood.


salt aversion

description: The specific avoidance actions or reactions of an organism in response to the perception of salt.


feeding behavior

description: Behavior associated with the intake of food.


suckling behavior

description: Specific behavior of a newborn or infant mammal that results in the derivation of nourishment from the breast.


larval feeding behavior

description: Feeding behavior in a larval (immature) organism.


drinking behavior

description: The specific behavior of an organism relating to the intake of liquids, especially water.


eating behavior

description: The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue.


name: reduction of food intake in response to dietary excess

description: An eating behavior process whereby detection of a dietary excess results in a decrease in intake of nutrients.


adult feeding behavior

description: Feeding behavior in a fully developed and mature organism.


nematode pharyngeal pumping

description: The contraction and relaxation movements of the pharyngeal muscle that mediate feeding in nematodes.


conditioned taste aversion

description: A conditioned aversion to a specific chemical compound as a result of that compound being coupled with a noxious stimulus.


angiotensin-mediated drinking behavior

description: The drinking behavior that is mediated by the action of angiotensin in the brain. Angiotensin stimulates the brain centers that control thirst.


skin sensitivity to sun

description: The response of human skin to sun exposure.


phototoxic dermatitis

description: Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.


photoallergic dermatitis

description: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.


skin pigmentation disorder

description: A pigmentation disease that involves the zone of skin.


acromelanosis

description: Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.


name: temperature-sensitive oculocutaneous albinism type 1

description: Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


name: hyperpigmentation, progressive cribriform and zosteriform


description: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.


Griscelli syndrome type 3

description: A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


description: Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.


name: minimal pigment oculocutaneous albinism type 1

description: Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.


oculocutaneous albinism type 1

description: Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


familial generalized lentiginosis

description: Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.


name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


name: deaf blind hypopigmentation syndrome, Yemenite type

description: Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.


name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

description: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.


Tietz syndrome

description: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


reticulate acropigmentation of Kitamura

description: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


oculocutaneous albinism type 6

description: A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.


Dowling-Degos disease 2

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


albinism-hearing loss syndrome

description: A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.


Hermansky-Pudlak syndrome 5

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

description: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


Hermansky-Pudlak syndrome 7

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 9

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


Dowling-Degos disease 4

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


oculocutaneous albinism type 7

description: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


oculocutaneous albinism type 5

description: Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


name: dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Griscelli syndrome

description: Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


Griscelli syndrome type 1

description: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.


Dowling-Degos disease

description: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.


description: Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome 10

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


name: osteopathia striata-pigmentary dermopathy-white forelock syndrome

description: Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.


oculocutaneous albinism

description: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


name: autosomal dominant oculocutaneous albinism

description: Autosomal dominant form of oculocutaneous albinism.


name: piebald trait-neurologic defects syndrome

description: Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.


name: oculocerebral hypopigmentation syndrome, Cross type

description: Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Hermansky-Pudlak syndrome 3

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


name: deafness, congenital, with total albinism


name: dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

description: A oculocutaneous albinism that is part of a larger syndrome.


name: hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

description: Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.


familial progressive hyperpigmentation

description: Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


oculocutaneous albinism type 1B

description: Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

description: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.


oculocutaneous albinism type 1A

description: Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.


name: dyschromatosis universalis hereditaria 3

description: Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


name: familial progressive hyper- and hypopigmentation

description: Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.


description: Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.


dyschromatosis symmetrica hereditaria

description: Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.


oculocutaneous albinism type 2

description: Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


Ito hypomelanosis

description: Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


Dowling-Degos disease 1

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


name: linear and whorled nevoid hypermelanosis

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


name: microcephaly 9, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


name: detection of triacyl bacterial lipopeptide

description: The series of events in which a triacylated bacterial lipoprotein stimulus is received by a cell and converted into a molecular signal. Triacylated bacterial lipoproteins are lipopeptides of bacterial origin containing a nonprotein moiety consisting of three acyl groups.


detection of external biotic stimulus

description: The series of events in which an external biotic stimulus is detected and converted into a molecular signal. An external biotic stimulus is defined as one caused or produced by a living organism other than the one being stimulated.


detection of parasitic plant

description: The series of events in which a stimulus from a parasitic plant is received and converted into a molecular signal.


detection of fungus

description: The series of events in which a stimulus from a fungus is received and converted into a molecular signal.


detection of peptidoglycan

description: The series of events in which a peptidoglycan stimulus is received by a cell and converted into a molecular signal. Peptidoglycan is a bacterial cell wall macromolecule.


detection of symbiont

description: The series of events in which a stimulus from a symbiont (an organism living in close physical association with an organism of a different species) is received and converted into a molecular signal. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


detection of lipopolysaccharide

description: The series of events in which a lipopolysaccharide stimulus is received by a cell and converted into a molecular signal. Lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.


detection of bacterial lipoprotein

description: The series of events in which a bacterial lipoprotein stimulus is received by a cell and converted into a molecular signal. Bacterial lipoproteins are lipoproteins characterized by the presence of conserved sequence motifs called pathogen-associated molecular patterns (PAMPs).


detection of bacterial lipopeptide

description: The series of events in which a bacterial lipopeptide stimulus is received by a cell and converted into a molecular signal.


detection of molecule of fungal origin

description: The series of events in which a stimulus from a molecule of fungal origin is received and converted into a molecular signal.


detection of yeast

description: The series of events in which a stimulus from a yeast is received and converted into a molecular signal.


detection of other organism

description: The series of events in which a stimulus from another organism is received and converted into a molecular signal.


name: detection of diacyl bacterial lipopeptide

description: The series of events in which a diacylated bacterial lipopeptide stimulus is received by a cell and converted into a molecular signal. Diacylated bacterial lipoproteins are lipopeptides of bacterial origin containing a nonprotein moiety consisting of two acyl groups.


detection of symbiotic bacterium

description: The series of events in which a stimulus from a symbiotic bacterium, a bacterium living in close physical association with another organism, is received and converted into a molecular signal.


detection of bacterium

description: The series of events in which a stimulus from a bacterium is received and converted into a molecular signal.


detection of protozoan

description: The series of events in which a stimulus from a protozoan is received and converted into a molecular signal.


name: detection of molecule of oomycetes origin

description: The series of events in which a stimulus from a molecule of oomycetes origin is received and converted into a molecular signal.


detection of nematode

description: The series of events in which a stimulus from a nematode is received and converted into a molecular signal.


detection of muramyl dipeptide

description: The series of events in which a muramyl dipeptide stimulus is received by a cell and converted into a molecular signal. Muramyl dipeptide is derived from peptidoglycan.


detection of lipoteichoic acid

description: The series of events in which a lipoteichoic acid stimulus is received by a cell and converted into a molecular signal; lipoteichoic acid is a major component of the cell wall of gram-positive bacteria and typically consists of a chain of glycerol-phosphate repeating units linked to a glycolipid anchor.


name: detection of molecule of bacterial origin

description: The series of events in which a stimulus from a molecule of bacterial origin is received and converted into a molecular signal.


detection of oomycetes

description: The series of events in which a stimulus from an oomycetes is received and converted into a molecular signal.


detection of insect

description: The series of events in which a stimulus from an insect is received and converted into a molecular signal.


Hematopoietic System Finding

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


Platelet Count Less Than 150x10^9/L

description: A semiquantitative hemocytometry finding indicating the presence of less than 150 billion platelets per liter of blood.


Eosinophilopenia

description: Abnormally low level of eosinophils in the blood.


Febrile Neutropenia

description: Neutropenia associated with fever, the latter indicating the presence of an infection.


leukemoid reaction

description: A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.


Chronic idiopathic neutropenia

description: A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.


Platelet Count 50000

description: Indicates a platelet count of at least 50,000 per cubic millimeter.


Neonatal neutropenia (disorder)

description: A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.


myelophthisic anemia

description: A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.


Platelet Count 20000

description: Indicates a platelet count of at least 20,000 per cubic millimeter.


Abnormal Hematology Test Result

description: A laboratory test result that indicates the presence of abnormal peripheral blood and/or bone marrow values.


Benign ethnic neutropenia

description: Chronic neutropenia in the absence of secondary causes, other cytopenia, splenomegaly, lymphadenopathy, or increased risk of infection. It occurs more frequently in individuals of African, Middle Eastern, and West Indian descent.


Cytopenia

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


Horner syndrome, horse

description: Horner syndrome that occurs in horse.


fatty acyl-CoA reductase 1 upregulation

description: A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


fatty acyl-CoA reductase defects

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


response to symbiotic bacterium

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 stimulus from a symbiotic bacterium, a bacterium living in close physical association with another organism.


Cicatrix, Hypertrophic

description: A permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously.


age related macular degeneration 4

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


melioidosis

description: An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.


name: response to cytokinesis checkpoint signaling

description: A process that occurs in response to signals generated as a result of cytokinesis checkpoint signaling.


name: Mixed phenotype acute leukemia T/myeloid

description: A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.


name: Stage M1 Embryonal Tumor with Multilayered Rosettes

description: Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


renal dysplasia, dog

description: Renal dysplasia that occurs in dog.


name: Prostate Acinar Adenocarcinoma, Atrophic Pattern

description: An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


ceroid lipofuscinosis, neuronal, 6A

description: A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

description: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

description: Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


name: non-severe combined immunodeficiency due to polymerase delta deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


ear neoplasm

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


disorder of ear

description: A disease that involves the ear.


perichondritis of auricle

description: An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


name: congenital corneal opacities, cornea guttata, and corectopia


tympanic membrane disorder

description: A disease involving the tympanic membrane.


chronic eustachian salpingitis

description: Chronic form of otosalpingitis.


acute perichondritis of pinna

description: Acute form of perichondritis of auricle.


acute infection of pinna

description: An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

description: A benign neoplasm that involves the middle ear.


autoimmune inner ear disease

description: A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


space motion sickness

description: Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


external ear disorder

description: A disease involving the external ear.


external ear neoplasm

description: A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

description: A cholesteatoma (disease) that involves the external ear.


polyp of middle ear

description: A benign polypoid growth in the middle ear.


acute eustachian salpingitis

description: Acute form of otosalpingitis.


motion sickness

description: A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.


chronic fungal otitis externa

description: Chronic form of otomycosis.


tympanitis

description: An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.


otomycosis

description: Fungus infection of the external ear, usually by aspergillus species


inner ear disorder

description: A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.


external ear lipoma

description: A benign adipose tissue neoplasm of the external ear.


name: chronic tubotympanic suppurative otitis media

description: A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.


chronic tympanitis

description: Chronic form of tympanitis.


ear infection

description: A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.


middle ear disorder

description: A disease involving the middle ear.


acute allergic mucoid otitis media

description: A blue drum syndrome caused by an allergen.


benign neoplasm of ear

description: A benign neoplasm that involves the ear.


myringitis bullosa hemorrhagica

description: A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.


name: active cochleovestibular Meniere disease


infectious otitis media

description: Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.


acute sanguinous otitis media

description: A acute transudative otitis media which involves bloody effusion.


middle ear cancer

description: A malignant neoplasm involving the middle ear


middle ear neuroendocrine tumor

description: A neuroendocrine neoplasm that involves the middle ear.


noxacusis

description: Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).


inner ear cancer

description: A malignant neoplasm involving the internal ear.


benign paroxysmal positional vertigo

description: Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.


suppurative otitis media

description: Inflammation of the middle ear with purulent discharge.


chronic perichondritis of pinna

description: Chronic form of perichondritis of auricle.


chronic non-suppurative otitis media

description: Chronic form of non-suppurative otitis media.


eustachian tube disorder

description: A disease involving the pharyngotympanic tube.


internal auditory canal lipoma

description: A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.


non-suppurative otitis media

description: A otitis media which involves transudation of fluid in the middle ear without pus formation.


internal auditory canal meningioma

description: A meningioma that affects the internal auditory canal.


patulous eustachian tube

description: A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.