malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


sublingual gland carcinoma

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

description: A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.


laryngeal neoplasm

description: A benign or malignant neoplasm involving the larynx.


sympathetic paraganglioma

description: A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.


paraneoplastic syndrome

description: A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.


precancerous condition

description: A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


neoplastic polyp

description: A term that includes all polypoid growth from the inner lining of the mucous membrane.


pancreatic exocrine neoplasm

description: A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.


cystic neoplasm

description: A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


childhood neoplasm

description: A benign or malignant neoplasm arising during childhood.


blood vessel neoplasm

description: A neoplasm arising from arteries or veins.


anti-NMDA receptor encephalitis

description: An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.


Meckel diverticulum neoplasm

description: A neoplasm involving a Meckel's diverticulum.


name: congenital fibrosis of extraocular muscles type 1

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


vision disorder

description: Any impairment to the vision.


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


gingival neoplasm

description: A benign or malignant neoplasm that affects the upper or lower gingiva.


papillary meningioma

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


peripheral nervous system cancer

description: Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


lipid-rich breast carcinoma

description: An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.


papillary cystadenoma

description: A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.


fallopian tube neoplasm

description: A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.


cranioectodermal dysplasia 1

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.


immunodeficiency disease

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


parkinsonian disorder

description: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.


papillary epithelial neoplasm

description: A benign, intermediate, or malignant neoplasm characterized by the presence of papillae lined by epithelial cells.


intraductal breast papilloma

description: A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.


papillomatosis

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


intraductal papillomatosis

description: A neoplastic process characterized by the presence of multiple intraductal papillomas.


breast neoplasm

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


name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor

description: A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.


prostate phyllodes tumor

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


alcoholic fatty liver disease

description: Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.


laminopathy

description: A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


narcolepsy

description: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


meningitis

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


inverted urothelial papilloma

description: An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.


sweat gland adenoma

description: A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.


ureter neoplasm

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


scrotum cancer

description: A primary or metastatic malignant neoplasm affecting the scrotum.


respiratory failure

description: The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.


Bartholin gland neoplasm

description: A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


luminal B breast carcinoma

description: A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.


luminal A breast carcinoma

description: A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.


lung neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.


intestinal neoplasm

description: A benign or malignant neoplasm involving the small or large intestine.


non-functioning endocrine neoplasm

description: A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.


functioning endocrine neoplasm

description: A hormone producing endocrine neoplasm, associated with a hormonal syndrome.


hemangioendothelioma

description: A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone

description: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


female infertility

description: Diminished or absent ability of a female to achieve conception.


microphthalmia

description: Congenital or developmental anomaly in which the eyeballs are abnormally small.


disorder of sphingolipid biosynthesis

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


frontal lobe ependymal tumor

description: An ependymal tumor affecting the frontal lobe of the brain.


tertiary hyperparathyroidism

description: An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.


acquired factor XIII deficiency

description: An acquired coagulation disorder due to reduced levels and activity of factor XIII.


acquired factor X deficiency

description: An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


bone marrow cancer

description: Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


acquired rippling muscle disease

description: The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


melanocytic neoplasm

description: A benign, atypical, or malignant neoplasm that arises from and is composed of melanocytes. This category includes melanocytic nevi, melanocytomas, and melanomas.


ovarian clear cell tumor

description: A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.


headache disorder

description: Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)


name: disorder of development or morphogenesis

description: Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.


female reproductive system neoplasm

description: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


dermis disorder

description: A disease that involves the dermis.


X-linked cone-rod dystrophy

description: X-linked form of cone-rod dystrophy.


hypophysitis

description: Inflammation of the pituitary gland.


gonococcal salpingitis

description: An salpingitis caused by infection with Neisseria gonorrhoeae.


gonococcal cystitis

description: An cystitis caused by infection with Neisseria gonorrhoeae.


gonococcal prostatitis

description: An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.


carotenemia

description: Increased serum carotenoids.


kidney neoplasm

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


posthitis

description: An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.


Paget disease

description: A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.


inflammatory disease

description: A disease involving a pathogenic inflammatory response in the anatomical structure.


myositis disease

description: An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.


hibernoma

description: A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


epithelioid hemangioma

description: A hemangioma characterized by the presence of epithelioid endothelial cells.


Timothy syndrome, classic type

description: Classic form of Timothy syndrome, includes all features of generic.


Timothy syndrome, atypical type

description: Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


herpetic vulvovaginitis

description: Infection of the vulva and the vagina caused by herpes simplex virus.


autoimmune hepatitis type 2

description: Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.


autoimmune hepatitis type 3

description: Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.


proteostasis deficiencies

description: Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.


acquired xanthinuria

description: Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


inherited blood coagulation disorder

description: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.


deltaretrovirus infections

description: Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).


hyperlipidemia

description: Elevated levels of lipids in the blood.


intestinal motility disease

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


DNA repair disease

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


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


neuroepithelial neoplasm

description: A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


skin infection

description: An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.


allergic otitis media

description: A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.


chronic otitis media

description: Chronic form of otitis media (disease).


disorder of ear

description: A disease that involves the ear.


chronic non-suppurative otitis media

description: Chronic form of non-suppurative otitis media.


Crohn jejunitis

description: An Crohn disease involving a pathogenic inflammatory response in the jejunum.


heart neoplasm

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


trachea neoplasm

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


brain neoplasm

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


placenta neoplasm

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


eye neoplasm

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


vestibulocochlear nerve neoplasm

description: A neoplasm (disease) that involves the vestibulocochlear nerve.


lacrimal gland neoplasm

description: A neoplasm (disease) that involves the lacrimal gland.


digestive system neoplasm

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


iris neoplasm

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


uvea neoplasm

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


adrenal gland neoplasm

description: A neoplasm (disease) that involves the adrenal gland.


brainstem neoplasm

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


ciliary body neoplasm

description: A neoplasm (disease) that involves the ciliary body.


uterine cervix neoplasm

description: A neoplasm (disease) that involves the uterine cervix.


retina neoplasm

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


pineal body neoplasm

description: A neoplasm (disease) that involves the pineal body.


ear neoplasm

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


spinal cord neoplasm

description: A neoplasm (disease) that involves the spinal cord.


external ear neoplasm

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


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


cornea neoplasm

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


urethra neoplasm

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


tongue neoplasm

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


buccal mucosa neoplasm

description: A neoplasm (disease) that involves the buccal mucosa.


sublingual gland neoplasm

description: A neoplasm (disease) that involves the sublingual gland.


parotid gland neoplasm

description: A neoplasm (disease) that involves the parotid gland.


submandibular gland neoplasm

description: A neoplasm (disease) that involves the submandibular gland.


oral cavity neoplasm

description: A neoplasm (disease) that involves the oral cavity.


pharynx neoplasm

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


nervous system neoplasm

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


lip neoplasm

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


tonsil neoplasm

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


endometrium neoplasm

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


gallbladder neoplasm

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


corpus uteri neoplasm

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


choroid neoplasm

description: A neoplasm (disease) that involves the optic choroid.


prostate neoplasm

description: A neoplasm (disease) that involves the prostate gland.


sensory ganglionopathy

description: A disease or disorder that involves the sensory ganglion.


villous adenoma of colon

description: A villous adenoma that involves the colon.


leiomyoma of ciliary body

description: A leiomyoma that involves the ciliary body.


papilloma of eyelid

description: A papilloma that involves the eyelid.


papilloma of buccal mucosa

description: A papilloma that involves the buccal mucosa.


name: mucoepidermoid carcinoma of submandibular gland

description: A mucoepidermoid carcinoma that involves the submandibular gland.


name: mucoepidermoid carcinoma of parotid gland

description: A mucoepidermoid carcinoma that involves the parotid gland.


cavernous hemangioma of retina

description: A cavernous hemangioma that involves the retina.


malignant teratoma of testis

description: A malignant teratoma that involves the testis.


malignant teratoma of mediastinum

description: A malignant teratoma that involves the mediastinum.


carcinoma in situ of ureter

description: A in situ carcinoma that involves the ureter.


carcinoma in situ of urethra

description: A in situ carcinoma that involves the urethra.


carcinoma in situ of epiglottis

description: A in situ carcinoma that involves the epiglottis.


carcinoma in situ of hypopharynx

description: A in situ carcinoma that involves the hypopharynx.


carcinoma in situ of cecum

description: A in situ carcinoma that involves the caecum.


carcinoma in situ of appendix

description: A in situ carcinoma that involves the vermiform appendix.


carcinoma in situ of fundus of stomach

description: A in situ carcinoma that involves the fundus of stomach.


carcinoma in situ of gastric body

description: A in situ carcinoma that involves the body of stomach.


carcinoma in situ of gastric cardia

description: A in situ carcinoma that involves the cardia of stomach.


carcinoma in situ of renal pelvis

description: A in situ carcinoma that involves the renal pelvis.


carcinoma in situ of nasopharynx

description: A in situ carcinoma that involves the nasopharynx.


carcinoma in situ of oropharynx

description: A in situ carcinoma that involves the oropharynx.


name: carcinoma in situ of extrahepatic bile duct

description: A in situ carcinoma that involves the extrahepatic bile duct.


adenoid cystic carcinoma of oropharynx

description: A adenoid cystic carcinoma that involves the oropharynx.


adenoma of nipple

description: A adenoma that involves the nipple.


adenoma of small intestine

description: A adenoma that involves the small intestine.


malignant neoplasm of endocervix

description: A cancer that involves the endocervix.


malignant tumor of neck

description: A cancer that involves the neck.


malignant tumor of parathyroid gland

description: A cancer that involves the parathyroid gland.


malignant tumor of adrenal cortex

description: A cancer that involves the adrenal cortex.


eyelid cancer

description: A cancer that involves the eyelid.


malignant tumor of nasopharynx

description: A cancer that involves the nasopharynx.


malignant tumor of minor salivary gland

description: A cancer that involves the minor salivary gland.


cancer of cerebellum

description: A cancer that involves the cerebellum.


malignant tumor of floor of mouth

description: A cancer that involves the mouth floor.


name: malignant tumor of extrahepatic bile duct

description: A cancer that involves the extrahepatic bile duct.


malignant tumor of meninges

description: A cancer that involves the meningeal cluster.


malignant neoplasm of chest wall

description: A cancer that involves the chest wall.


name: malignant neoplasm of abdominal esophagus

description: A cancer that involves the abdominal part of esophagus.


name: malignant neoplasm of thoracic esophagus

description: A cancer that involves the thoracic part of esophagus.


name: malignant neoplasm of cervical esophagus

description: A cancer that involves the cervical part of esophagus.


carcinoma of urethra

description: A carcinoma that involves the urethra.


carcinoma of soft palate

description: A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.


carcinoma of parotid gland

description: A carcinoma that involves the parotid gland.


carcinoma of lip

description: A carcinoma that involves the lip.


immunoproliferative disorder

description: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.


carcinoma of duodenum

description: A carcinoma that involves the duodenum.


tonsil carcinoma

description: A carcinoma that involves the tonsil.


carcinoma of hard palate

description: A carcinoma that involves the hard palate.


intertrigo

description: A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.


carcinoma of floor of mouth

description: A carcinoma that involves the mouth floor.


carcinoma of pharynx

description: A carcinoma that involves the pharynx.


neoplasm of testis

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


neoplasm of thorax

description: A neoplasm (disease) that involves the thoracic segment of trunk.


neoplasm of neck

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


tumor of uterus

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


tumor of adipose tissue

description: A neoplasm (disease) that involves the adipose tissue.


neoplasm of esophagus

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


tumor of salivary gland

description: A neoplasm (disease) that involves the saliva-secreting gland.


neoplasm of hypopharynx

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


tumor of parathyroid gland

description: A neoplasm (disease) that involves the parathyroid gland.


neoplasm of oropharynx

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


neoplasm of middle ear

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


leukemia, myeloid, accelerated-phase

description: The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


neoplasm of major salivary gland

description: A neoplasm (disease) that involves the major salivary gland.


neoplasm of minor salivary gland

description: A neoplasm (disease) that involves the minor salivary gland.


neoplasm of temporal lobe

description: A neoplasm (disease) that involves the temporal lobe.


neoplasm of parietal lobe

description: A neoplasm (disease) that involves the parietal lobe.


neoplasm of cerebral hemisphere

description: A neoplasm involving a cerebral hemisphere.


tumor of duodenum

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


hypertrophic lichen planus

description: A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.


neoplasm of endocardium

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


neoplasm of epicardium

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


neoplasm of myocardium

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


neoplasm of pericardium

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


neoplasm of floor of mouth

description: A neoplasm (disease) that involves the mouth floor.


extrahepatic bile duct neoplasm

description: A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.


neoplasm of mediastinum

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


neoplasm of chest wall

description: A neoplasm (disease) that involves the chest wall.


neoplasm of aortic body

description: A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.


polyp of ureter

description: A polyp that involves the ureter.


polyp of large intestine

description: A polyp that involves the large intestine.


polyp of vagina

description: A polyp that involves the vagina.


polyp of vulva

description: A polyp that involves the mammalian vulva.


polyp of rectum

description: A polyp that involves the rectum.


polyp of colon

description: A polyp that involves the colon.


polyp of external auditory canal

description: A polyp that involves the external acoustic meatus.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


polyp of frontal sinus

description: A polyp that involves the frontal sinus.


polyp of maxillary sinus

description: A polyp that involves the maxillary sinus.


polyp of gallbladder

description: A polyp that involves the gall bladder.


polyp of ethmoidal sinus

description: A polyp that involves the ethmoid sinus.


polyp of vocal cord

description: A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


hemangiopericytoma of skin

description: A hemangiopericytoma that involves the zone of skin.


squamous cell carcinoma of lip

description: A squamous cell carcinoma that involves the lip.


name: squamous cell carcinoma of floor of mouth

description: A squamous cell carcinoma that involves the mouth floor.


name: squamous cell carcinoma of buccal mucosa

description: A squamous cell carcinoma that involves the buccal mucosa.


lipoma of stomach

description: A lipoma that involves the stomach.


benign neoplasm of pituitary gland

description: A benign neoplasm that involves the pituitary gland.


benign neoplasm of skin

description: A benign neoplasm that involves the zone of skin.


benign neoplasm of exocrine pancreas

description: A benign neoplasm that involves the exocrine pancreas.


benign neoplasm of lymph node

description: A benign neoplasm that involves the lymph node.


benign neoplasm of large intestine

description: A benign neoplasm that involves the large intestine.


benign neoplasm of oral cavity

description: A benign neoplasm that involves the oral cavity.


benign neoplasm of epiglottis

description: A benign neoplasm that involves the epiglottis.


benign neoplasm of testis

description: A benign neoplasm that involves the testis.


benign neoplasm of stomach

description: A benign neoplasm that involves the stomach.


benign neoplasm of heart

description: A benign neoplasm that involves the heart.


benign neoplasm of brain

description: A benign neoplasm that involves the brain.


benign neoplasm of cornea

description: A benign neoplasm that involves the cornea.


benign neoplasm of retina

description: A benign neoplasm that involves the retina.


benign neoplasm of eye

description: A benign neoplasm that involves the eye.


benign neoplasm of neck

description: A benign neoplasm that involves the neck.


benign neoplasm of sternum

description: A benign neoplasm that involves the sternum.


benign neoplasm of pleura

description: A benign neoplasm that involves the pleura.


benign neoplasm of penis

description: A benign neoplasm that involves the penis.


benign neoplasm of esophagus

description: A benign neoplasm that involves the esophagus.


benign neoplasm of salivary gland

description: A benign neoplasm that involves the saliva-secreting gland.


benign neoplasm of hypopharynx

description: A benign neoplasm that involves the hypopharynx.


benign neoplasm of rectum

description: A benign neoplasm that involves the rectum.


benign neoplasm of parathyroid gland

description: A benign neoplasm that involves the parathyroid gland.


benign neoplasm of cecum

description: A benign neoplasm that involves the caecum.


benign neoplasm of appendix

description: A benign neoplasm that involves the vermiform appendix.


benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


benign neoplasm of anus

description: A benign neoplasm that involves the anus.


benign neoplasm of pancreas

description: A benign neoplasm that involves the pancreas.


benign neoplasm of endometrium

description: A benign neoplasm that involves the endometrium.


benign neoplasm of scrotum

description: A benign neoplasm that involves the scrotum.


benign neoplasm of epididymis

description: A benign neoplasm that involves the epididymis.


benign neoplasm of ear

description: A benign neoplasm that involves the ear.


benign neoplasm of nasal cavity

description: A benign neoplasm that involves the nasal cavity.


benign neoplasm of tongue

description: A benign neoplasm that involves the tongue.


benign neoplasm of sphenoidal sinus

description: A non-metastasizing neoplasm that arises from the sphenoid sinus.


benign neoplasm of nasopharynx

description: A benign neoplasm that involves the nasopharynx.


benign neoplasm of oropharynx

description: A benign neoplasm that involves the oropharynx.


benign neoplasm of soft palate

description: A benign neoplasm that involves the soft palate.


benign neoplasm of submandibular gland

description: A benign neoplasm that involves the submandibular gland.


benign neoplasm of middle ear

description: A benign neoplasm that involves the middle ear.


benign neoplasm of frontal sinus

description: A benign neoplasm that involves the frontal sinus.


benign neoplasm of maxillary sinus

description: A benign neoplasm that involves the maxillary sinus.


benign neoplasm of iris

description: A benign neoplasm that involves the iris.


benign neoplasm of ciliary body

description: A benign neoplasm that involves the ciliary body.


benign neoplasm of choroid

description: A benign neoplasm that involves the optic choroid.


benign neoplasm of lacrimal gland

description: A benign neoplasm that involves the lacrimal gland.


benign neoplasm of sweat gland

description: A benign neoplasm that involves the sweat gland.


benign neoplasm of sebaceous gland

description: A benign neoplasm that involves the sebaceous gland.


benign neoplasm of gum

description: A benign neoplasm that involves the gingiva.


benign neoplasm of major salivary gland

description: A benign neoplasm that involves the major salivary gland.


benign neoplasm of minor salivary gland

description: A benign neoplasm that involves the minor salivary gland.


benign neoplasm of parotid gland

description: A benign neoplasm that involves the parotid gland.


benign neoplasm of sublingual gland

description: A benign neoplasm that involves the sublingual gland.


benign neoplasm of lip

description: A benign neoplasm that involves the lip.


benign neoplasm of cerebrum

description: A benign neoplasm that involves the telencephalon.


benign neoplasm of placenta

description: A benign neoplasm that involves the placenta.


benign neoplasm of cerebellum

description: A benign neoplasm that involves the cerebellum.


benign neoplasm of spleen

description: A benign neoplasm that involves the spleen.


benign neoplasm of small intestine

description: A benign neoplasm that involves the small intestine.


benign neoplasm of gallbladder

description: A benign neoplasm that involves the gall bladder.


benign neoplasm of endocardium

description: A benign neoplasm that involves the endocardium.


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


benign neoplasm of brain stem

description: A benign neoplasm that involves the brainstem.


benign neoplasm of epicardium

description: A benign neoplasm that involves the epicardium.


benign neoplasm of myocardium

description: A benign neoplasm that involves the myocardium.


benign neoplasm of prostate

description: A benign neoplasm that involves the prostate gland.


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


benign neoplasm of thymus

description: A benign neoplasm that involves the thymus.


benign neoplasm of tonsil

description: A benign neoplasm that involves the tonsil.


benign neoplasm of pericardium

description: A benign neoplasm that involves the pericardium.


benign neoplasm of ethmoidal sinus

description: A benign neoplasm that involves the ethmoid sinus.


benign neoplasm of glottis

description: A benign neoplasm that involves the glottis.


benign neoplasm of trachea

description: A benign neoplasm that involves the trachea.


benign neoplasm of hard palate

description: A benign neoplasm that involves the hard palate.


benign neoplasm of floor of mouth

description: A benign neoplasm that involves the mouth floor.


benign neoplasm of mediastinum

description: A benign neoplasm that involves the mediastinum.


benign neoplasm of lower jaw bone

description: A benign neoplasm that involves the bone of lower jaw.


benign neoplasm of pharynx

description: A benign neoplasm that involves the pharynx.


benign neoplasm of buccal mucosa

description: A benign neoplasm that involves the buccal mucosa.


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


benign neoplasm of meninges

description: A benign neoplasm that involves the meningeal cluster.


benign neoplasm of male breast

description: A non-metastasizing neoplasm that arises from the breast parenchyma in males.


benign neoplasm of chest wall

description: A benign neoplasm that involves the chest wall.


benign neoplasm of subglottis

description: A benign neoplasm that involves the subglottis.


fibroma of lung

description: A fibroma that involves the lung.


fibroma of prostate

description: A fibroma that involves the prostate gland.


intestinal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


rectal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


pancreatic neuroendocrine tumor G1

description: A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.


name: undifferentiated carcinoma of nasopharynx

description: A undifferentiated carcinoma that involves the nasopharynx.


verrucous carcinoma of oral cavity

description: A verrucous carcinoma that involves the oral cavity.


hamartoma of skin appendage

description: A hamartoma (disease) that involves the cutaneous appendage.


hamartoma of lung

description: A hamartoma (disease) that involves the lung.


hemangioma of retina

description: A hemangioma that involves the retina.


hemangioma of choroid

description: A hemangioma that involves the optic choroid.


hemangioma of gingiva

description: A hemangioma that involves the gingiva.


myomatous neoplasm

description: A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.


ependymal tumor of spinal cord

description: An ependymal tumor that arises from the spinal cord.


non-autoimmune hemolytic anemia

description: Hemolytic anemia that is not mediated by immune mechanisms.


omphalitis

description: Inflammation of the umbilical cord stump in newborns.


renal tubule disorder

description: A disease that involves the renal tubule.


name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant

description: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.


oocyte maturation defect 2

description: Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


oocyte maturation defect 4

description: An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.


fallopian tube endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


sternal neoplasm

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


neoplasm of femur

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


neoplasm of jaw

description: A neoplasm (disease) that involves the jaw skeleton.


connective tissue neoplasm

description: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


lentigo

description: A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.


melanocytic skin neoplasm

description: A melanocytic neoplasm that involves the zone of skin.


eyelid sebaceous gland carcinoma

description: A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.


benign eyelid neoplasm

description: A non-metastasizing neoplasm that arises from the upper or lower eyelid.


eyelid seborrheic keratosis

description: A seborrheic keratosis that involves the eyelid.


eyelid capillary hemangioma

description: A capillary hemangioma arising from the eyelid.


uterine ligament neoplasm

description: A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.


lipoma of face

description: A lipoma that involves the face.


brain astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the brain.


primary brain neoplasm

description: A neoplasm arising from the brain.


cerebral astrocytoma

description: An astrocytoma that arises from the cerebral hemispheres.


epithelial skin neoplasm

description: A epithelial neoplasm that involves the zone of skin.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


astrocytic tumor

description: A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.


low grade glioma

description: A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.


low grade astrocytic tumor

description: A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).


grade II glioma

description: A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.


grade III glioma

description: A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.


Bunyaviridae infectious disease

description: Virus diseases caused by the bunyaviridae.


vulval varices

description: A varicose disease that involves the mammalian vulva.


mesenteric varices

description: A varicose disease that involves the mesentery.


esophageal varices without bleeding

description: Evidence of esophageal varices without bleeding.


esophageal varices with bleeding

description: Bleeding from esophageal varices.


uterine corpus neuroendocrine neoplasm

description: An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


synpolydactyly

description: A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


diffuse type adenocarcinoma

description: An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.


nongerminomatous germ cell tumor

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


ovarian sex cord-stromal tumor

description: A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


vascular ectasia

description: Dilatation of the blood vessels.


combined carcinoid and adenocarcinoma

description: A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


coronary atherosclerosis

description: Atherosclerosis of the coronary vasculature.


bile duct neoplasm

description: A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.


sarcomatoid squamous cell carcinoma

description: A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.


ear infection

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


neuralgia

description: A pain disorder characterize by pain in the distribution of a nerve or nerves


post-infectious disorder

description: A disorder that follows infection but is distinct from the infection itself and its usual manifestations.


post-viral disorder

description: A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.


gram-negative bacterial infections

description: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.


gram-positive bacterial infections

description: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.


streptococcal infection

description: Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.


sexually transmitted disease

description: A Disease due to or propagated by sexual contact.


viral sexually transmitted disease

description: Viral diseases which are potentially transmitted or propagated by sexual conduct.


chlamydia infectious disease

description: Infections with bacteria of the genus CHLAMYDIA.


alcohol-related disorders

description: Disorders related to or resulting from abuse or mis-use of alcohol.


alcohol-induced disorders

description: Disorders stemming from the misuse and abuse of alcohol.


alcohol amnestic disorder

description: A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)


polyneuritis

description: Inflammation of several peripheral nerves.


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


vaginismus

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


abdominal cystic lymphangioma

description: Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..


aberrant subclavian artery

description: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..


proctosigmoiditis

description: Inflammation of the sigmoid colon and rectum.


prurigo

description: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


puerperal infection

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


psychosocial short stature

description: A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.


Acanthamoeba infectious disease

description: An infectious disease involving the Acanthamoeba.


pyonephrosis

description: Pus within the collecting system of the kidney.


Achard-Thiers syndrome

description: Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women


acquired agranulocytosis

description: Agranulocytosis that is autoimmune in origin.


acquired fructose intolerance

description: Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


name: acral dysostosis dyserythropoiesis syndrome

description: An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.


acrocoxomesomelic dysplasia

description: A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


acrofacial dysostosis Preis type

description: Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


acute rheumatic heart disease

description: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).


streptococcal sore throat

description: Inflammation of the throat due to Streptococcus pyogenes.


silicotuberculosis

description: Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.


name: acromesomelic dysplasia, Campailla Martinelli type


acute cholinergic dysautonomia

description: A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.


primary dysautonomia

description: Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.


acute mountain sickness

description: Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


aerobic Actinomyces infection

description: Infection with the less common aerobic antinomyces bacteria.


Akaba Hayasaka syndrome

description: A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.


Aksu von Stockhausen syndrome

description: A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.


Al Gazali Khidr Prem Chandran syndrome

description: A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


spirochaetales infections

description: Infections with bacteria of the order SPIROCHAETALES.


Aloi Tomasini Isaia syndrome

description: A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: alopecia universalis onychodystrophy vitiligo

description: A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.


Alsing syndrome

description: An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


name: small cell variant anaplastic large cell lymphoma

description: A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.


name: temporomandibular joint dysfunction syndrome

description: A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.


aortopulmonary window

description: A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


aplasia cutis autosomal recessive

description: Aplasia cutis with autosomal recessive inheritance.


aplasia cutis congenita dominant

description: Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


aquagenic pruritus

description: Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


arakawa syndrome 2

description: A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.


Arroyo Garcia Cimadevilla syndrome

description: A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.


tracheobronchitis

description: Inflammation of the tracheobronchial tree.


traumatic myositis ossificans

description: Myositis Ossificans resulting from trauma.


infection by Trypanosoma gambiense

description: Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


aspergillus niger infection

description: A infectious disease involving the Aspergillus niger.


infection by Trypanosoma rhodesiense

description: An infection with Trypanosoma brucei rhodesiense.


tuberculoma

description: A tumor-like mass resulting from the enlargement of a tuberculous lesion.


auditory neuropathy

description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


hearing disorder

description: A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.


autoimmune oophoritis

description: Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.


autoimmune progesterone dermatitis

description: Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


tuberculous fibrosis of lung

description: Scarring of the lung parenchyma caused by pulmonary tuberculosis.


name: autosomal recessive nonsyndromic congenital nuclear cataract


ureteritis

description: An acute or chronic inflammatory process affecting the ureter.


baker Vinters syndrome

description: A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


basaloid follicular hamartoma

description: A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


Basaran Yilmaz syndrome

description: A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.


water intoxication

description: A condition resulting from the excessive retention of water with sodium depletion.


bobble-head doll syndrome

description: Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.


Boerhaave syndrome

description: A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


Boudhina Yedes Khiari syndrome

description: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions


bowenoid papulosis

description: Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


lentivirus infection

description: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


large-cell immunoblastic lymphoma

description: Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.


calcifying epithelial odontogenic tumor

description: A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.


Cantu Sanchez-Corona Hernandez syndrome

description: Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies


carbon baby syndrome

description: Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.


pyogenic granuloma

description: A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.


catamenial pneumothorax

description: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


chronic prostatitis

description: An infectious or non-infectious chronic inflammatory process that affects the prostate gland.


name: central centrifugal cicatricial alopecia


Charles bonnet syndrome

description: Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.


chromhidrosis

description: A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


chromosome 12p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.


Parinaud syndrome

description: A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


vascular disorder of penis

description: A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.


corticobasal degeneration disorder

description: A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


name: hair defect with photosensitivity and intellectual disability syndrome

description: Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.


name: 2-methylacetoacetyl CoA thiolase deficiency


4-hydroxyphenylacetic aciduria

description: Increased concentration of 4-hydroxyphenylacetic acid in the urine.


congenital absence of septum pellucidum

description: The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


name: acute lymphoblastic leukemia congenital sporadic aniridia

description: A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.


cervical intraepithelial neoplasia

description: Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


aglossia and situs inversus

description: A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.


agyria pachygyria polymicrogyria

description: Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.


agyria-pachygyria type 1

description: A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.


Ahumada Del Castillo syndrome

description: A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.


name: alopecia congenita keratosis palmoplantaris


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


persistent fetal circulation syndrome

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


Mauriac syndrome

description: A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.


amyloidosis bronchopulmonary

description: Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.


angiomyomatous hamartoma

description: An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


angiosarcoma of the scalp

description: Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


name: ankyloblepharon filiforme imperforate anus


annular constricting bands

description: A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.


anophthalmia cleft palate micrognathia

description: A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.


name: anophthalmia esophageal atresia cryptorchidism

description: A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.


anotia facial palsy cardiac defect

description: A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.


description: An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.


aortic dissection lentiginosis

description: A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.


arthrogryposis IUGR thoracic dystrophy

description: A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.


name: arthrogryposis multiplex congenita CNS calcification

description: A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.


asternia

description: Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


autoimmune inner ear disease

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


autoimmune myocarditis

description: Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.


leukoplakia of gingiva

description: A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.


Basedow's coma

description: A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.


name: benign angiitis of the central nervous system

description: A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


benign metastasizing leiomyoma

description: A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


bidirectional tachycardia

description: Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.


name: biliary atresia intrahepatic non syndromic form


name: biliary atresia intrahepatic syndromic form


biliary hypoplasia

description: A syndromic disease characterized by a small ductal system and reduction in the number of interlobular bile ducts.


name: bilirubin induced brain injury in the newborn


Billet Bear syndrome

description: A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.


childhood bladder carcinoma

description: A rare carcinoma of the bladder that occurs during childhood.


name: blepharo naso facial syndrome van Maldergem type

description: A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.


name: brachydactyly absence of distal phalanges


name: brachydactyly small stature face anomalies


branchial arch disease

description: A disease that involves the pharyngeal system development.


name: extraovarian Brenner tumor of the vagina

description: A Brenner tumor that involves the vagina.


name: congenital disorder of glycosylation syndrome type 4


name: camptodactyly joint contractures and facial skeletal dysplasia


name: Cantu Sanchez-Corona Garcia-Cruz syndrome


childhood carcinoid tumor

description: A rare carcinoid tumor that occurs during childhood.


carcinoma of the vocal tract

description: A carcinoma that involves the laryngeal vocal fold.


name: cardiac hydatid cysts with intracavitary expansion


name: cardiomelic syndrome stratton Koehler type


name: cardiomyopathy and deafness due to tRNA lysine gene mutation

description: A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.


name: cardiomyopathy hypogonadism collagenoma syndrome


name: cardiomyopathy hypogonadism metabolic anomalies


cassavism

description: A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.


autosomal dominant cataract

description: A syndromic cataract that has autosomal dominant inheritance.


cerebellar degeneration

description: Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


name: cerebral calcification cerebellar hypoplasia


name: cerebral calcifications opalescent teeth phosphaturia


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


chester porphyria

description: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.


Chiari malformation type 3

description: A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


name: chondrodysplasia punctata with steroid sulfatase deficiency


name: chorioretinopathy dominant form microcephaly


choroid plexus cyst

description: Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


choroideremia hypopituitarism

description: This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.


occupational asthma

description: Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.


non-neoplastic nevus

description: A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


chromosome 17p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.


chromosome 1q deletion

description: Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


chromosome 20 trisomy

description: Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trisomy 22

description: Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).


name: chronic demyelinizing neuropathy with IgM monoclonal


name: circumscribed cutaneous aplasia of the vertex


name: circumscribed disseminated keratosis Jadassohn lew type


classic Kaposi sarcoma

description: A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


name: cleft lip and palate malrotation cardiopathy


name: cleft lip and/or palate with mucous cysts of lower


name: cleft lip palate intellectual disability corneal opacity


name: cleft lip palate oligodontia syndactyly pili torti


name: cleft lower lip cleft lateral canthi chorioretinal


name: cleft palate cardiac defect ectrodactyly


name: cleft palate colobomata radial synostosis deafness


name: cleft palate heart disease polydactyly absent tibia


coccygodynia

description: Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.


name: deficiency of coenzyme q cytochrome c reductase


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


type 2 collagenopathy

description: Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.


complement receptor deficiency

description: A disorder with basis in disruption of a complement receptor.


name: congenital absence of the sternocleidomastoid muscle


name: congenital aneurysms of the great vessels


name: congenital benign spinal muscular atrophy dominant


name: congenital craniosynostosis maternal hyperthyroiditis


name: congenital cystic eye multiple ocular and intracranial anomalies


name: congenital heart disease ptosis hypodontia craniostosis


name: congenital heart disease radio ulnar synostosis intellectual disability


name: congenital stenosis of cervical medullary canal


Dennis-Fairhurst-Moore syndrome

description: A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: congenital unilateral pulmonary hypoplasia


name: continuous spike-wave during slow sleep syndrome


cor biloculare

description: A congenital anatomic anomaly in which the heart has only two chambers.


name: corneal dystrophy ichthyosis microcephaly intellectual disability


name: corneal dystrophy pigmentary anomaly malabsorption


name: coronary arteries congenital malformation


name: corpus callosum agenesis of blepharophimosis robin type


name: corpus callosum dysgenesis X-linked recessive


name: corpus callosum dysgenesis hypopituitarism


name: craniofacial dysostosis arthrogryposis progeroid appearance


name: craniostenosis with congenital heart disease intellectual disability


name: craniosynostosis arthrogryposis cleft palate


name: craniosynostosis cleft lip palate arthrogryposis


name: craniosynostosis exostoses nevus epibulbar dermoid


name: craniosynostosis intellectual disability heart defects


athyreotic congenital hypothyroidism

description: Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


Crohn disease of the esophagus

description: An Crohn disease involving a pathogenic inflammatory response in the esophagus.


cryofibrinogenemia

description: Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


name: cutis gyratum acanthosis nigricans craniosynostosis