cytokine receptor deficiency

description: A disease that has its basis in the disruption of cytokine receptor activity.


name: Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia

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


Davenport-Donlan syndrome

description: An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: deafness conductive stapedial ear malformation facial palsy


name: deafness hypospadias metacarpal and metatarsal syndrome


name: deafness mesenteric diverticula of small bowel neuropathy


name: deafness peripheral neuropathy arterial disease


name: deafness progressive cataract autosomal dominant


name: dermatocardioskeletal syndrome boronne type


desmoplastic infantile astrocytoma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


desmoplastic infantile ganglioglioma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


dextrocardia with situs inversus

description: Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.


diabetic mastopathy

description: Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).


name: diaphragmatic agenesis radial aplasia omphalocele


name: diaphragmatic hernia exomphalos corpus callosum agenesis


name: diffuse cavernous hemangioma of the rectum


name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

description: A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


diploid-triploid mosaicism

description: Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.


dipsogenic diabetes insipidus

description: Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.


Drachtman Weinblatt Sitarz syndrome

description: A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


name: duplication of the thumb unilateral biphalangeal


neonatal dacryocystitis

description: Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


name: ectodermal dysplasia alopecia preaxial polydactyly


name: ectodermal dysplasia arthrogryposis diabetes mellitus


name: ectodermal dysplasia neurosensory deafness


klumpke's paralysis

description: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.


eosinophilic cryptitis

description: Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.


eosinophilic pustular folliculitis

description: Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


name: epidermal nevus vitamin D resistant rickets


name: epiphyseal dysplasia dysmorphism camptodactyly


erythroplakia

description: A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.


exogenous ochronosis

description: Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.


name: extrasystoles short stature hyperpigmentation microcephaly


name: facial clefting corpus callosum agenesis


name: facio digito genital syndrome recessive form


name: facio skeletal genital syndrome rippberger type


name: familial capillaro-venous leptomeningeal angiomatosis


familial colorectal cancer

description: Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.


familial prostate carcinoma

description: Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.


name: familial pulmonary arterial hypertension leucopenia and atrial septal defect


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


name: fetal parainfluenza virus type 3 syndrome

description: A syndrome caused by HPIV-3.


name: infection due to clostridium perfringens


fibrocartilaginous embolism

description: Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.


tuberculous ascites

description: A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.


name: fibular hypoplasia scapulo pelvic dysplasia absent


Fitz-Hugh-Curtis syndrome

description: Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


viral myocarditis

description: Myocarditis that is caused by an infection with a viral agent.


viral pericarditis

description: Pericarditis that is caused by an infection with a viral agent.


name: florid cystic endosalpingiosis of the uterus


name: focal alopecia congenital megalencephaly


name: focal or multifocal malformations in neuronal migration


foix chavany Marie syndrome

description: Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


Freiberg disease

description: Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.


name: frontonasal malformation cloacal exstrophy


name: frontonasal dysplasia Klippel feil syndrome


name: frontonasal dysplasia phocomelic upper limbs


name: Fuchs atrophia gyrata chorioideae et retinae


name: functional pancreatic neuroendocrine tumor

description: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


name: Gaucher ichthyosis restrictive dermopathy


inherited reflex epilepsy

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


gestational diabetes insipidus

description: A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


giant cell myocarditis

description: An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.


glass-chapman-hockley syndrome

description: The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.


linear porokeratosis

description: Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.


name: polyarticular juvenile rheumatoid arthritis


name: glossopalatine ankylosis micrognathia ear anomalies


name: glycogen storage disease type 1 due to SLC37A4 mutation

description: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.


name: goniodysgenesis intellectual disability short stature


description: A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.


Graham-Boyle-Troxell syndrome

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


granulomatous hypophysitis

description: Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.


ovarian granulosa cell tumor

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


graphite pneumoconiosis

description: A disorder associated with chronic exposure to inhaled dust from crystallized carbon.


guttate psoriasis

description: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.


heavy metal poisoning

description: Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.


Ho-Kaufman-McAlister syndrome

description: Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet


disorder of facial skeleton

description: A disease that involves the facial skeleton.


neoplastic disease or syndrome

description: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


pityriasis rotunda

description: Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.


congenital candidiasis

description: A fungal infection by any of the Candida species that is present at birth.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


name: chondrodysplasia situs inversus imperforate anus polydactyly


infectious myositis

description: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


KSHV inflammatory cytokine syndrome

description: A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.


C1q nephropathy

description: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


acquired testicular failure

description: Testicular failure, the cause of which is not present at birth.


infective vaginitis

description: An infectious process affecting the vagina. Symptoms include pain and purulent discharge.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


laryngeal papillomatosis

description: Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.


mesomelic dysplasia

description: A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


name: non-classic congenital adrenal hyperplasia

description: A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


name: hereditary disorder of connective tissue

description: An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


lentigo maligna melanoma

description: Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.


levator syndrome

description: Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.


lip and oral cavity carcinoma

description: A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.


lipodermatosclerosis

description: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


littoral cell angioma of the spleen

description: Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.


name: immunodeficiency 14b, autosomal recessive


name: intellectual developmental disorder, autosomal dominant 65


name: developmental and epileptic encephalopathy 96


hematohidrosis

description: Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.


tympanic paraganglioma

description: A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


maple syrup urine disease type 1A

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


maple syrup urine disease type 1B

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


maple syrup urine disease type 2

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


Marinesco-Sjogren-like syndrome

description: A disease with similar features to Marinesco-Sjogren syndrome.


Martinez Monasterio Pinheiro syndrome

description: A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


mediastinal yolk sac tumor

description: An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.


meralgia paresthetica

description: Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.


multifocal choroiditis

description: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.


corneal infection

description: A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.


melanoma associated retinopathy

description: Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


WHIM syndrome

description: An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset


miliaria pustulosa

description: A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.


miliaria profunda

description: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


miliaria crystallina

description: A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.


name: Seckel like syndrome majoor-krakauer type


Brenner tumor

description: A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.


inherited neurodegenerative disorder

description: An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


name: congenital anomaly of cardiovascular system

description: A disease that has its basis in the disruption of cardiovascular system development.


eccrine carcinoma

description: An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.


ductal eccrine adenocarcinoma

description: A very rare eccrine adenocarcinoma characterized by the presence of prominent ductal differentiation.


syringofibroadenoma

description: A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.


benign eccrine neoplasm

description: A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


pityriasis lichenoides

description: A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).


acute lichenoid pityriasis

description: A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


Minamata disease

description: A neurological syndrome caused by severe mercury poisoning.


name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome


hereditary motor neuron disease

description: An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.


neonatal aspiration syndrome

description: Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Duane syndrome type 1

description: Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.


patent ductus arteriosus 3

description: Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.


superficial mycosis

description: A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


parasitic intestinal disorder

description: Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.


intestinal helminthiasis

description: A parasitic helminthiasis infectious disease that involves the intestine.


amebic dysentery

description: Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.


glandular cell neoplasm

description: A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


neonatal thrombocytopenia

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


proctocolitis

description: Inflammation of the rectum and colon.


chronic endometritis

description: A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


polyarticular arthritis

description: An arthritis affecting five or more separate joints.


juvenile chronic polyarthritis

description: A group of conditions used to describe polyarthritis occurring in children.


mucinous ovarian cancer

description: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.


Demodex folliculitis

description: A demodicidosis that involves the hair follicle.


demodicidosis of sebaceous gland

description: A demodicidosis that involves the sebaceous gland.


benign blood vessel neoplasm

description: A benign neoplasm arising from arteries or veins.


congenital vascular malformation

description: A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


hyperbilirubinemia

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


enuresis

description: An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).


vascular malformation

description: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.


gastrointestinal polyp

description: A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.


skin disorder caused by infection

description: Skin diseases caused by bacteria, fungi, parasites, or viruses.


name: skin disease caused by bacterial infection

description: Skin diseases caused by bacteria.


vascular neoplasm

description: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


vitamin deficiency disorder

description: A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.


hypophosphatemic rickets

description: Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


acquired mineral metabolism disease

description: An instance of mineral metabolism disease that is acquired during the lifetime of the individual.


internal hirudiniasis

description: A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


external hirudiniasis

description: The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


ichthyosis vulgaris

description: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


acquired hyperprolactinemia

description: An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.


acquired lactic acidosis

description: An instance of lactic acidosis that is acquired during the lifetime of the individual.


name: pseudoxanthoma elasticum (inherited or acquired)

description: An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.


name: neuropathy, hereditary sensory and autonomic, type 2A

description: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13


angiodysplasia of stomach

description: A angiodysplasia that involves the stomach.


cancer affecting bone of limb skeleton

description: A cancer that involves the limb bone.


staphylococcal infection

description: An infection caused by Staphylococcus.


parasitemia

description: The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)


parasitic endophthalmitis

description: Infection of the epicondyles by a parasite.


name: physiological malfunction arising from mental factor

description: A dysfunction in biological function that is due to a psychological process.


chronic pain syndrome

description: Chronic form of disorder involving pain.


name: viral infection of central nervous system


inner ear neoplasm

description: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


disorder of GPI anchor biosynthesis

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


disorder of glycosylation

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


glomangiomyoma

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


cutaneous glomangiomyoma

description: A glomangiomyoma that involves the zone of skin.


pleural adenomatoid tumor

description: A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


chronic renal failure syndrome

description: Impairment of the renal function due to chronic kidney damage.


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.


colorectal carcinoma

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


perennial allergic rhinitis

description: Allergic rhinitis caused by indoor allergens and lasting year round.


sciatica

description: A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.


retrobulbar neuritis

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


vulvar adenocarcinoma

description: An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.


urothelial neoplasm

description: A neoplasm involving a urothelium.


lymph node neoplasm

description: A neoplasm involving a lymph node.


retinal neuroblastoma

description: A neuroblastoma arising from the retina.


retinal cell neoplasm

description: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.


pityriasis alba

description: A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name "pityriasis alba" derives from its appearance, where "pityriasis" denotes the fine scales and "alba" signifies the pale color (hypopigmentation).


viral respiratory tract infection

description: A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.


cytomegalovirus pneumonia

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


respiratory tract infectious disorder

description: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.


complex sleep apnea

description: A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.


name: central sleep apnea due to periodic breathing


name: central sleep apnea caused by high altitude


circadian rhythm sleep disorder

description: A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


name: sleep disorder, initiating and maintaining sleep


name: circadian rhythm sleep disorder, delayed sleep phase type

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


name: circadian rhythm sleep disorder, advanced sleep phase type

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


name: circadian rhythm sleep disorder, irregular sleep wake type

description: A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


name: circadian rhythm sleep disorder, jet lag type

description: A circadian sleep disorder that results from traveling across time zones.


name: circadian rhythm sleep disorder, shift work type

description: A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.


name: large cell lung carcinoma, clear cell variant

description: A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.


benign ovarian sex cord-stromal tumor

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


Clostridium infectious disease

description: Infections with bacteria of the genus clostridium.


infection caused by Bifidobacterium

description: A disease caused by infection with Bifidobacterium.


Peptostreptococcus infectious disease

description: A disease caused by infection with Peptostreptococcus.


Neorickettsia infectious disease

description: A disease caused by infection with Neorickettsia.


perceptual disorders

description: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


name: muscular fibrosis multifocal obstructed vessels


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


auditory perceptual disorders

description: Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.


Alice in Wonderland syndrome

description: A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


nerve plexus disorder

description: A disease that involves the nerve plexus.


sacral nerve plexus disorder

description: A disease that involves the sacral nerve plexus.


autosomal dominant Robinow syndrome 1

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.


anterior segment dysgenesis 3

description: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


name: neurodegeneration with brain iron accumulation 2A

description: A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


disorder of visual system

description: A disease that involves the visual system.


angiomatosis

description: A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.


name: susceptibility to familial cutaneous melanoma

description: A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.


name: pituitary hormone deficiency, combined, 1

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


name: surfactant metabolism dysfunction, pulmonary, 2


name: facial paresis, hereditary congenital, 1


apocrine sweat gland disorder

description: A disease that involves the apocrine sweat gland.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


chondrogenic neoplasm

description: A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


benign chondrogenic neoplasm

description: A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


boutonneuse fever

description: An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.


Astrakhan spotted fever

description: An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.


intraepithelial neoplasia

description: A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).


squamous cell intraepithelial neoplasia

description: A precancerous neoplastic intraepithelial process involving the squamous epithelium.


epithelial neoplasm of rectum

description: A epithelial neoplasm that involves the rectum.


name: liver and intrahepatic bile duct neoplasm

description: A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.


mesenchymal hamartoma

description: A hamartoma characterized by the presence of mesenchymal elements.


epithelial tumor of colon

description: A epithelial neoplasm that involves the colon.


skin appendage disorder

description: A disease that involves the cutaneous appendage.


eccrine sweat gland hamartoma

description: A hamartoma characterized by localized eccrine sweat gland malformation.


urothelial hyperplasia

description: Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


papillary urothelial hyperplasia

description: A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


nail infection

description: An infectious process affecting the nail.


vascular bone neoplasm

description: A benign, intermediate, or malignant vascular neoplasm that arises from the bone.


duodenal neuroendocrine neoplasm

description: A neuroendocrine neoplasm that involves the duodenum.


appendix neuroendocrine neoplasm

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


gallbladder neuroendocrine neoplasm

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


name: digestive system neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).


name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

description: A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.


Adams-Oliver syndrome 1

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


familial acne inversa

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


reactive thrombocytosis

description: A thrombocytosis caused by an underlying condition, such as an infection.


renal hypodysplasia/aplasia 1

description: The presence of developmental dysplasia of the kidney.


name: amyloidosis, primary localized cutaneous, 1

description: Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


aortic valve disease 1

description: Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.


name: dyschromatosis universalis hereditaria 1


Zimmermann-Laband syndrome 1

description: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.


name: glomerulopathy with fibronectin deposits 1


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

description: Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


myopathy, tubular aggregate, 1

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.


otofaciocervical syndrome 1

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.


pulmonary hypertension, primary, 1

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.


Dowling-Degos disease 1

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


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


glucocorticoid deficiency 1

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


Brown-Vialetto-van Laere syndrome 1

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


name: basal ganglia calcification, idiopathic, 1

description: An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.


choroidal dystrophy, central areolar, 1

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


Jervell and Lange-Nielsen syndrome 1

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


trichohepatoenteric syndrome 1

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.


brittle cornea syndrome 1

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.


Miyoshi muscular dystrophy 1

description: Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.


pancreatic agenesis 1

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.


peeling skin syndrome 1

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.


frontometaphyseal dysplasia 1

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.


name: X-linked lymphoproliferative disease due to SH2D1A deficiency

description: A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.


name: linear skin defects with multiple congenital anomalies 1

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.


name: myopathy, lactic acidosis, and sideroblastic anemia 1

description: Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


D-2-hydroxyglutaric aciduria 1

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


name: epilepsy, familial focal, with variable foci 1

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


ataxia-telangiectasia-like disorder 1

description: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.


vitelliform macular dystrophy 3

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


sick sinus syndrome 1

description: Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.


name: herpes simplex encephalitis, susceptibility to, 1

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.


name: cerebroretinal microangiopathy with calcifications and cysts 1

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.


name: ectodermal dysplasia-syndactyly syndrome 1

description: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


infantile liver failure syndrome 1

description: Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.


hyperparathyroidism 4

description: Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.


AIDS-related disorder

description: A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.


immunodeficiency-related disorder

description: A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


familial hypertrophic cardiomyopathy

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


name: von Willebrand disease (hereditary or acquired)

description: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.


pregnancy disorder

description: A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


name: congenital muscular dystrophy with cataracts and intellectual disability

description: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


dientamoebiasis

description: Gastrointestinal infection with organisms of the genus dientamoeba.


vulvar squamous cell carcinoma

description: An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)


parasitic skin disorder

description: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


orbit neoplasm

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


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


bipolar depression

description: The depressive stage of bipolar disorder.


neurotic depression

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


T-cell and NK-cell neoplasm

description: A group of neoplasms composed of T-lymphocytes and/or NK-cells.


tympanitis

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


xanthogranuloma

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


poliovirus infection

description: An disease or disorder caused by infection with Enterovirus C.


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


serous cystadenocarcinoma

description: A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.


thyroid gland adenocarcinoma

description: An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).


otorhinolaryngologic disease

description: Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


disorder of lacrimal gland

description: A disease that involves the lacrimal gland.


hypertensive nephropathy

description: Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.


large intestine disorder

description: A disease that involves the large intestine.


small intestine disorder

description: A disease that involves the small intestine.


inflammation of heart layer

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


malignant soft tissue neoplasm

description: A malignant neoplasm arising exclusively from the soft tissues.


pancreatic gastrinoma

description: A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.


name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

description: A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.


gastric neuroendocrine tumor G2

description: A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.


myocardial disorder

description: A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


myocardial ischemia

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


retroperitoneal neoplasm

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


urolithiasis

description: Stone(s) within the urinary tract.


optic tract meningioma

description: A meningioma that affects the visual pathway.


optic tract astrocytoma

description: An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


skull disorder

description: A non-neoplastic or neoplastic disorder that affects structures of the skull.


colorectal lymphoma

description: An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.


extrahepatic bile duct sarcoma

description: A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.


colorectal Kaposi sarcoma

description: A Kaposi sarcoma that arises from the colon or rectum.


tubular adenoma

description: A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.


tubulovillous adenoma

description: An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.


colorectal tubulovillous adenoma

description: A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.


primary skin meningioma

description: A rare extracranial meningioma that arises from the skin.


hypertension, pregnancy-induced

description: A hypertensive disorder that develops during pregnancy.


name: indeterminate sex and/or pseudohermaphroditism


benign epithelial skin neoplasm

description: A form of epithelial skin neoplasm without malignant characteristics.


skin lymphangioma

description: A lymphangioma arising from the skin.


Pancoast syndrome

description: A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.


adult kidney Wilms tumor

description: Wilms tumor of the kidney which occurs in adults.


childhood kidney Wilms tumor

description: A Wilms tumor of the kidney which occurs in children.


pancreatic insulinoma

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.


description: Myeloid leukemia characterized by the presence of Philadelphia chromosome.


name: tenosynovial giant cell tumor, diffuse type

description: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


name: malignant mixed epithelial stromal tumor of the kidney

description: A mixed epithelial stromal tumor of the kidney with malignant stromal features.


benign synovial neoplasm

description: A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.


childhood choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


immature teratoma

description: A teratoma composed of immature, fetal-type tissues.


cardiovascular neoplasm

description: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


name: autoinflammatory syndrome, familial, X-linked, Behcet-like 2


name: myopathy, distal, 7, adult-onset, X-linked


name: intellectual developmental disorder, X-linked, syndromic, Pilorge type


name: immunodeficiency 98 with autoinflammation, X-linked

description: An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.


immunodeficiency 102

description: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


adult brain stem neoplasm

description: A brainstem neoplasm that occurs in an adult.


pulmonary sulcus neoplasm

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


immature extragonadal teratoma

description: An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.


small size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.


name: medium/large size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


name: metastatic carcinoma in the adrenal medulla

description: A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.


clitoral carcinoma

description: A carcinoma that arises from the clitoris.


tendon sheath disorder

description: A disease that involves the tendon sheath.


clitoris neoplasm

description: A neoplasm involving a clitoris.


secondary carcinoma

description: A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.


metastatic carcinoma

description: A carcinoma which has spread from the original site of growth to another anatomic site.


metastatic malignant neoplasm

description: A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.


secondary malignant neoplasm

description: A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


secondary neoplasm

description: A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


metastatic neoplasm

description: A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.


metastatic carcinoma in the bone

description: A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.


malignant ovarian serous tumor

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


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.


mesonephric neoplasm

description: An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.


benign mesonephroma

description: A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.


pineal parenchymal cell neoplasm

description: A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)


non-infectious meningitis

description: Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.


soft tissue amyloid neoplasm

description: A soft tissue neoplasm composed of acellular amyloid material.


name: toxocara canis infection (canine roundworms)


bird disease

description: Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.


cat disease

description: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.


cattle disease

description: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.


dog disease

description: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.


fish disease

description: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


foot rot

description: A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)


hepatitis, non-human animal

description: Inflammation of the liver in non-human animals.


horse disease

description: Diseases of domestic and wild horses of the species Equus caballus.


lameness, non-human animal

description: A departure from the normal gait in animals.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


parasitic disease, non-human animal

description: Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.


parturient paresis

description: A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.


name: pneumonia, atypical interstitial, of cattle

description: A cattle disease of uncertain cause, probably an allergic reaction.


rodent disease

description: Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).


salmonella infections, animal

description: Infections in animals with bacteria of the genus salmonella.


sheep disease

description: Diseases of domestic and mountain sheep of the genus Ovis.


sex cord-stromal benign neoplasm

description: A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


swine disease

description: Diseases of domestic swine and of the wild boar of the genus Sus.


goat disease

description: Diseases of the domestic or wild goat of the genus Capra.


non-human primate disease

description: Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.


vesicular stomatitis

description: A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.


digital dermatitis in cattle

description: Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.


edema disease of swine

description: An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.


encephalomyelitis, enzootic porcine

description: A picornavirus infection producing symptoms similar to poliomyelitis in pigs.


epidermitis, exudative, of swine

description: An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)


helminthiasis, animal

description: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.


hepatitis, viral, animal

description: Inflammation of the liver in animals due to viral infection.


hip dysplasia, canine

description: A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.


classical swine fever

description: An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.


infectious bovine rhinotracheitis

description: A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.


malaria, avian

description: Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.


malignant catarrh

description: A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.


mastitis, bovine

description: Inflammation of the udder in cows.


monkey disease

description: Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).


poultry disease

description: Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.


protozoan infections, animal

description: Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.


swine erysipelas

description: An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.


swine vesicular disease

description: An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.


tuberculosis, avian

description: A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.


tuberculosis, bovine

description: An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.


vesicular exanthema of swine

description: A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.


white muscle disease

description: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)


encephalopathy, bovine spongiform

description: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)


non-human ape disease

description: Diseases of chimpanzees, gorillas, and orangutans.


pneumonia of swine, mycoplasmal

description: A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.


white heifer disease

description: A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.


reticuloendotheliosis, avian

description: A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.


oculopharyngodistal myopathy

description: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


strongyle infections, equine

description: Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.


toxoplasmosis, non-human animal

description: Acquired infection of non-human animals by organisms of the genus toxoplasma.


trypanosomiasis, bovine

description: Infection in cattle caused by various species of trypanosomes.


poult enteritis mortality syndrome

description: An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.


tick-borne infectious disease

description: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.


anaplasmosis

description: A disease or disorder caused by infection with Anaplasma.


name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked


name: developmental and epileptic encephalopathy, 90


name: azoospermia, obstructive, with nephrolithiasis


Nairobi sheep disease

description: An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.


Parvoviridae infectious disease

description: Virus infections caused by the parvoviridae.


African horse sickness

description: An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.


African swine fever

description: A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).


avian leukosis

description: A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.


sarcoma, avian

description: Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.


bluetongue

description: A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.