liver adenomatosis

description: A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.


atelencephaly

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


aprosencephaly

description: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


mueller-weiss syndrome

description: A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.


name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome


name: idiopathic multidrug-resistant nephrotic syndrome


name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


name: GJC2-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.


description: A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

description: A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


name: EPHB4-related lymphatic-related hydrops fetalis

description: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.


name: CELSR1-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


congenital primary lymphedema of Gordon

description: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.


ricin poisoning

description: A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.


name: blepharophimosis-ptosis-epicanthus inversus syndrome plus


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2


name: infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

description: A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


name: DONSON-related microcephaly-short stature-limb abnormalities spectrum

description: A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.


pheochromocytoma-paraganglioma

description: A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.


name: predisposition to severe viral infection due to IRF7 deficiency


name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency


description: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.


punctate inner choroidopathy

description: A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.


name: congenital infiltrating lipomatosis of the face


name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

description: B-lymphoblastic leukemias/lymphomas characterized by the presence of recurring cytogenetic and/or molecular abnormalities.


sporadic fatal insomnia

description: A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.


name: mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


name: mixed phenotype acute leukemia with t(v;11q23.3)

description: A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the KMT2A gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.


name: congenital-onset Steinert myotonic dystrophy


name: childhood-onset Steinert myotonic dystrophy


name: juvenile-onset Steinert myotonic dystrophy


name: choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome


name: GNAO1-related developmental delay-seizures-movement disorder spectrum


name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.


name: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies


name: neuromyelitis optica spectrum disorder with anti-MOG antibodies


name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


name: acute transverse myelitis with anti-MOG antibodies


name: isolated optic neuritis without anti-MOG antibodies


name: isolated optic neuritis with anti-MOG antibodies


name: acute disseminated encephalomyelitis with anti-MOG antibodies


name: acute disseminated encephalomyelitis without anti-MOG antibodies


Timothy syndrome type 1

description: Classical Timothy syndrome with cutaneous syndactyly.


Timothy syndrome type 2

description: Classical Timothy syndrome without cutaneous syndactyly.


name: combined immunodeficiency due to RELA haploinsufficiency


incomplete septal cirrhosis

description: A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.


name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


name: blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome


name: FOXG1 syndrome due to intragenic alteration


name: hereditary angioedema with normal C1inh not related to F12 or PLG variant


acquired hemophilia A

description: An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.


acquired factor V deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


acquired factor VII deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


acquired factor XI deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


name: factor V short isoforms-related bleeding disorder


name: idiopathic non-lupus full-house nephropathy


name: idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.


name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome


name: combined deficiency of factor VII and factor X


description: A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.


name: non-syndromic anorectal malformation with rectourethral fistula, bulbar type


name: non-syndromic anorectal malformation with rectourethral fistula, prostatic type


name: cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome


name: KLHL7-related cold-induced sweating-like syndrome


name: symptomatic form of X-linked centronuclear myopathy in female carriers


name: idiopathic multicentric Castleman disease


name: chronic intervillositis of unknown etiology


Mills syndrome

description: A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.


name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of an KMT2A related fusion protein.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.


name: B-lymphoblastic leukemia/lymphoma with hypodiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


name: KAT6B-related multiple congenital anomalies syndrome


parkinsonism with polyneuropathy

description: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial.


name: spastic paraparesis-cataracts-speech delay syndrome


name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation


name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster


name: short-rib thoracic dysplasia 18 with polydactyly


name: Charcot-Marie-Tooth disease, dominant intermediate G


refractory malignant neoplasm

description: A malignant neoplasm that does not respond to treatment.


childhood malignant kidney neoplasm

description: A malignant neoplasm that affects the kidney and occurs in childhood.


adrenal cortex neoplasm

description: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


ovarian Sertoli-Leydig cell tumor

description: A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


spleen neoplasm

description: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


axillary neoplasm

description: A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.


benign axillary neoplasm

description: A non-metastasizing neoplasm that arises from the structures of the axilla.


lymphatic vessel neoplasm

description: A benign or malignant neoplasm arising from the lymphatic vessels.


benign ovarian mucinous tumor

description: A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.


name: punctate acrokeratoderma freckle-like pigmentation


benign epithelial neoplasm

description: A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.


benign Leydig cell tumor

description: A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


benign phyllodes tumor

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


malignant phyllodes tumor

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


lung germ cell tumor

description: A germ cell tumor that arises from the lung.


childhood testicular neoplasm

description: A neoplasm that arises from the testis during childhood.


congestive splenomegaly

description: A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.


thecoma

description: An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.


ovarian thecoma

description: A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


transitional cell neoplasm

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


ovarian serous tumor

description: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.


name: pneumonia caused by pseudomonas aeruginosa infection

description: A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.


sebaceous gland cancer

description: A cancer that involves the sebaceous gland.


infratentorial neoplasm

description: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.


peritoneal solitary fibrous tumor

description: A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.


cauda equina cancer

description: A cancer that involves the cauda equina.


benign neoplasm of cauda equina

description: A benign neoplasm that involves the cauda equina.


name: malignant central nervous system mesenchymal, non-meningothelial neoplasm

description: A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


name: endometrioid stromal and related neoplasms

description: A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


mediastinal soft tissue cancer

description: A malignant neoplasm that arises from the soft tissues of the mediastinum.


fibromyxoid tumor

description: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.


name: malignant vaginal mixed epithelial and mesenchymal neoplasm

description: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.


hyperlipoproteinemia

description: An elevated concentration of lipoproteins.


carbohydrate metabolism disease

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


glycerol metabolism disease

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


porphyrin metabolism disease

description: A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


purine metabolism disease

description: A disease that has its basis in the disruption of purine nucleobase metabolic process.


vertebral joint disorder

description: A disease that involves the intervertebral joint.


name: inherited fatty acid metabolism disorder

description: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


valine metabolism disease

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


amino acid metabolism disease

description: A disease that has its basis in the disruption of cellular amino acid metabolic process.


bordetellosis

description: Any disease caused by infection with organisms of the genus Bordetella.


pyrimidine metabolism disease

description: A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.


name: inborn disorder of aspartate family metabolism

description: An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.


porphyria

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


inherited auditory system disease

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


name: glycosylphosphatidylinositol biosynthesis defect 16


name: ehlers-danlos syndrome, arthrochalasia type, 2


blepharocheilodontic syndrome 2

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


name: inherited glutathione metabolism disease

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


autosomal recessive ocular albinism

description: Autosomal recessive form of ocular albinism (disease).


name: autosomal dominant oculocutaneous albinism

description: Autosomal dominant form of oculocutaneous albinism.


name: class V glucose-6-phosphate dehydrogenase deficiency


malignant peritoneal germ cell tumor

description: A malignant germ cell tumor that affects the peritoneum.


orgasm disorder

description: A change in the ability to obtain orgasm or in the quality of the orgasmic sensation.


myofibroblastoma

description: A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


great vessel cancer

description: A malignant neoplasm arising from the great vessels.


invasive carcinoma

description: A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.


infiltrating urothelial carcinoma

description: A invasive carcinoma that involves the urothelium.


urothelial carcinoma

description: A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.


necrotizing scleritis

description: A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.


orbital dermoid cyst

description: A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


name: Pseudomonas aeruginosa infectious disease


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


primary polydipsia

description: A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.


psychogenic polydipsia

description: A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.


non-psychogenic polydipsia

description: A form of primary polydipsia not caused by underlying psychiatric symptoms.


latent early syphilis

description: Latent syphilis when infection was acquired less than twelve months previously.


late latent syphilis

description: Latent syphilis when infection was acquired more than twelve months previously.


name: Pasteurella multocida infectious disease


postherpetic neuralgia

description: Pain that occurs after the disappearance of herpes zoster infection lesions.


name: central retinal vein occlusion with macular edema


name: malignant otitis externa caused by Pseudomonas aeruginosa

description: An malignant otitis externa caused by infection with Pseudomonas aeruginosa.


peripheral ischemia

description: Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.


carcinoid crisis

description: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.


polymorphic light eruption

description: A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight.


Rowell syndrome

description: A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.


diphtheritic myocarditis

description: An myocarditis caused by infection with Corynebacterium diphtheriae.


primary motor cortex epilepsy

description: A epilepsy that involves the primary motor cortex.


acute papillary necrosis

description: Acute form of kidney papillary necrosis.


acute epiglottitis

description: Acute form of epiglottitis.


toxic amblyopia

description: A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.


name: metastatic malignant neoplasm in the colon

description: The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.


name: metastasis from malignant tumor of colon


name: pregnancy disorder with abortive outcome

description: The unintentional or intentional loss of a pregnancy before 22 weeks gestation.


name: mesenteric lymphadenitis due to Yersinia infection

description: An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.


Far-East scarlet-like fever

description: A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


ST-elevation myocardial infarction

description: A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.


multibacillary leprosy

description: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.


paucibacillary leprosy

description: A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.


name: twin reversal arterial perfusion syndrome


drug-resistant tuberculosis

description: Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.


name: bacterial meningitis caused by gram-negative bacteria


name: pneumonia caused by gram negative bacteria


staphylococcus aureus pneumonia

description: An pneumonia caused by infection with Staphylococcus aureus.


gonococcal infection of joint

description: Arthritis caused by bacterial infection with Neisseria gonorrhoeae.


disseminated candidiasis

description: Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.


name: Yersinia enterocolitica infectious disease


mycotic endocarditis

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


endomyometritis

description: An inflammation of the endometrium and the myometrium.


Trichinella spiralis infectious disease

description: An disease or disorder caused by infection with Trichinella spiralis.


infective arthritis

description: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


uterine cervix carcinoma in situ

description: Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003


Cestode infectious disease

description: Infections with true tapeworms of the helminth subclass Cestoda.


disease susceptibility

description: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.


name: neutropenia, severe congenital, 1, autosomal dominant

description: Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the ELANE gene, encoding neutrophil elastase


description: A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.


gastric non-hodgkin lymphoma

description: An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


childhood malignant melanoma

description: A melanoma that occurs during childhood.


arteriosclerotic retinopathy

description: A arteriosclerosis disorder that involves the retina.


ergotism

description: Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.


mycotoxicosis

description: Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).


name: benign familial neonatal-infantile seizures 1


name: Y chromosome infertility due to DAZ1 deletion


name: prostatic malacoplakia associated with prostatic abscess


name: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations


name: macrogyria, pseudobulbar palsy and intellectual disability


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


name: sacral hemangiomas multiple congenital abnormalities


wandering spleen

description: A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


Machado-Joseph disease type 4

description: A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 5

description: A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


inherited mitral valve disease

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


rheumatic disease of mitral valve

description: A rheumatologic disorder that involves the mitral valve.


name: partial duplication of the long arm of chromosome 12

description: Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


disorder of glutamate decarboxylase

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


congenital herpes virus infection

description: An infectious embryofetopathy caused by infection with Herpesviridae.


familial osteosclerosis

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


name: parainfluenza virus type 3 infectious disease

description: Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.


vitamin B deficiency

description: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


aortic valve stenosis

description: Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.


name: GATA2 deficiency with susceptibility to MDS/AML

description: A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).


neurocutaneous syndrome

description: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.


familial acanthosis nigricans

description: An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.


Weil's disease

description: A jauncice caused by severe leptospirosis.


name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome

description: An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.


name: neuroaxonal dystrophy renal tubular acidosis


name: coronal synostosis, syndactyly and jejunal atresia


name: chromosome 1, uniparental disomy 1q12 q21


name: thickened earlobes with conductive deafness from incus-stapes abnormalities


name: acute posterior multifocal placoid pigment epitheliopathy

description: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.


hypothalamic dysfunction

description: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.


name: hypothyroidism due to iodide transport defect

description: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


name: male pseudohermaphroditism due to defective lh molecule


name: microcephaly sparse hair intellectual disability seizures


name: negative rheumatoid factor polyarthritis


name: pancreatic lipomatosis duodenal stenosis


name: richieri-costa guion-almeida cohen syndrome


name: short limb dwarf lethal colavita kozlowski type


trichostasis spinulosa

description: Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


albinism

description: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.


neurovascular disorder

description: A disorder of the nervous system related to a vascular etiology.


migraine with brainstem aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


ciguatera fish poisoning

description: Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.


exfoliative dermatitis

description: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)


glossodynia

description: Painful sensations in the tongue, including a sensation of burning.


hemophilic arthropathy

description: A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.


leukoplakia

description: A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


Mallory-Weiss syndrome

description: A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


post-traumatic epilepsy

description: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)


rheumatoid vasculitis

description: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.


TORCH syndrome

description: A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.


mosaic trisomy 6

description: Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).


Wallerian degeneration

description: A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


superior vena cava syndrome

description: Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.


name: Rokitansky-Aschoff sinuses of the gallbladder

description: An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.


linear scleroderma

description: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


vibrio vulnificus infectious disease

description: An disease or disorder caused by infection with Vibrio vulnificus.


actinic cheilitis

description: Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.


hyperacusis

description: A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.


amaurosis fugax

description: Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)


aquarium granuloma

description: A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.


amyopathic dermatomyositis

description: A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


piriformis syndrome

description: A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


cerebrospinal fluid leak

description: Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).


Mirizzi syndrome

description: Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.


lathyrism

description: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.


Chilaiditi syndrome

description: Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.


name: progressive transformation of germinal centers

description: Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.


name: intravascular papillary endothelial hyperplasia

description: A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


fournier gangrene

description: An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.


collagenous gastritis

description: A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.


engraftment syndrome

description: A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.


May-Thurner syndrome

description: A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


eosinophil peroxidase deficiency

description: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.


secondary adrenal insufficiency

description: A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.


sudden sensorineural hearing loss

description: Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.


juvenile spondyloarthropathy

description: A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


digestive system infectious disorder

description: A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.


chromosome 8, trisomy

description: A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


humoral hypercalcemia of malignancy

description: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.


radiation-induced disorder

description: A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.


achlorhydria

description: Absence of hydrochloric acid in the gastric juice.


acne keloid

description: A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.


ectopic ACTH secretion syndrome

description: A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)


Adams-Stokes syndrome

description: An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.


adenoviridae infectious disease

description: An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.


arteritis

description: An inflammatory process affecting an artery.


brain injury

description: Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.


traumatic encephalopathy

description: Encephalopathy resulting from trauma.


cadmium poisoning

description: Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.


carcinoid heart disease

description: Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.


cluster headache syndrome

description: A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


iatrogenic disease

description: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


nosocomial infection

description: An infection acquired in a hospital or other healthcare setting.


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


infantile diarrhea

description: Diarrhea occurring in infants from newborn to 24-months old.


endarteritis

description: Inflammation of the arterial intima.


enteritis

description: Inflammation of the small intestine.


herpes labialis

description: A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.


chromosome inversion disorder

description: Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.


Leriche syndrome

description: An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.


alcoholic liver diseases

description: A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.


multiple organ dysfunction syndrome

description: The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.


lytic metastatic bone lesion

description: Dissolution of bone that particularly involves the removal or loss of calcium.


osteoradionecrosis

description: Necrosis of bone following radiation injury.


abdominal ectopic pregnancy

description: Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.


tubal pregnancy

description: An abnormal pregnancy in which the conception is implanted in the fallopian tube.


presbycusis

description: Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.


thrombocytopenic purpura

description: Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.


radiodermatitis

description: A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.


respiratory paralysis

description: Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.


rhinophyma

description: Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


sclerema neonatorum

description: A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.


serositis

description: Inflammation of a serous membrane.


serum sickness

description: Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.


spinal cord injury

description: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).


tuberculosis, spinal

description: Tuberculosis of the vertebrae.


ulcer disease

description: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.


voice disorders

description: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


tumor lysis syndrome

description: A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.


hereditary optic atrophy

description: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


eye infectious disorder

description: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.


prosthesis-related infectious disease

description: A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.


leishmaniasis, diffuse cutaneous

description: A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.


pneumonitis

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


radiation pneumonitis

description: Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.


lichen planus, oral

description: A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.


burkholderia infectious disease

description: Infections with bacteria of the genus Burkholderia.


pseudolymphoma

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


nocturnal paroxysmal dystonia

description: A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


autonomic dysreflexia

description: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)


cubital tunnel syndrome

description: Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)


central nervous system lupus

description: Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.


zoster sine herpete

description: Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.


acute cholecystitis

description: Acute inflammation of the gallbladder.


name: hearing loss, mixed conductive-sensorineural

description: Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


puerperal disorder

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


postpartum thyroiditis

description: A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum


posterior leukoencephalopathy syndrome

description: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.


livedo reticularis

description: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.


candidiasis, invasive

description: A fungal infection by any of the Candida species in a sterile body compartment.


candidemia

description: A form of invasive candidiasis where species of candida are present in the blood.


cardio-renal syndrome

description: A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.


alternariosis

description: Opportunistic fungal infection by a member of Alternaria genus.


collagenous sprue

description: A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.


ovarian ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted on the ovary.


pregnancy, cornual

description: An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.


bullous systemic lupus erythematosus

description: A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.


vitreous body disorder

description: Any disease affecting the vitreous body of the eye.


hyalitis

description: Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.


panic disorder without agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


panic disorder with agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


T-B+ severe combined immunodeficiency

description: T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


episodic kinesigenic dyskinesia

description: Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.


foveal hypoplasia

description: Underdevelopment of the fovea centralis.


Shwachman-Diamond syndrome 2

description: Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).


name: otospondylomegaepiphyseal dysplasia, autosomal recessive


specific granule deficiency 1

description: Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.


specific granule deficiency 2

description: Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


name: disorder of lectin complement activation pathway

description: A disease that has its basis in the disruption of complement activation, lectin pathway.


thalassemia minor

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


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


acute idiopathic urticaria

description: Acute form of idiopathic urticaria.


familial adenomatous polyposis 4

description: An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.


name: aortic aneurysm, familial thoracic 11, susceptibility to


name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


name: congenital heart defects and ectodermal dysplasia


name: hyperphenylalaninemia due to DNAJC12 deficiency

description: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


name: ectodermal dysplasia 13, hair/tooth type


name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

description: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


bardet-biedl syndrome 21

description: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).


description: BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).


name: immunoskeletal dysplasia with neurodevelopmental abnormalities


name: intellectual disability, autosomal recessive 60


craniosynostosis 7

description: Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).


name: thrombocytopenia, anemia, and myelofibrosis


name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

description: IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).


name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

description: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).


name: structural heart defects and renal anomalies syndrome


name: intellectual developmental disorder with neuropsychiatric features

description: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).


Rahman syndrome

description: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).


Al Kaissi syndrome

description: Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).


name: developmental delay and seizures with or without movement abnormalities

description: DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).


name: polycystic liver disease 4 with or without kidney cysts

description: An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.


name: short-rib thoracic dysplasia 20 with polydactyly

description: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).


osteogenesis imperfecta, type 18

description: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: childhood-onset benign chorea with striatal involvement


description: A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


benign soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the soft tissue.


colorectal signet ring cell carcinoma

description: An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.


stromal sarcoma

description: A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


autoimmune primary ovarian failure

description: An autoimmune form of primary ovarian failure.


lumbar disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the lumbar spine.


thoracic disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


cervical disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the cervical spine.


name: Schistosoma japonicum infectious disease

description: An infection that is caused by Schistosoma japonicum.


Schistosoma mansoni infectious disease

description: An infection that is caused by Schistosoma mansoni.


name: echinococcus granulosus infectious disease

description: An disease or disorder caused by infection with Echinococcus granulosus.


erythrocyte disorder

description: A disease or disorder that involves the erythrocyte.


acquired hemoglobinopathy

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


name: hyperparathyroidism, primary, caused by water clear cell hyperplasia


name: Schistosoma intercalatum infectious disease

description: An disease or disorder caused by infection with Schistosoma intercalatum.


description: Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.


name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome


name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


propylthiouracil embryofetopathy

description: Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).


16p12.1p12.3 triplication syndrome

description: 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


name: EMILIN-1-related connective tissue disease


name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


name: female infertility due to oocyte meiotic arrest


name: early-onset familial noncirrhotic portal hypertension


name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


name: infantile-onset generalized dyskinesia with orofacial involvement


hypopharynx squamous cell carcinoma

description: A squamous cell carcinoma that involves the hypopharynx.


name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy


name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


familial monosomy 7 syndrome

description: A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.


name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome


name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


name: MME-related autosomal dominant Charcot Marie Tooth disease type 2


name: menstrual cycle-dependent periodic fever


aquagenic palmoplantar keratoderma

description: Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


name: chronic relapsing inflammatory optic neuropathy

description: A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.


isolated optic neuritis

description: A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.


recurrent idiopathic neuroretinitis

description: A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.


optic perineuritis

description: A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome


name: SIN3A-related intellectual disability syndrome


name: SIN3A-related intellectual disability syndrome due to a point mutation


name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


oropharynx squamous cell carcinoma

description: A squamous cell carcinoma that involves the oropharynx.


paranasal sinus squamous cell carcinoma

description: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.


name: lip and oral cavity squamous cell carcinoma

description: A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.


name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


name: metopic ridging-ptosis-facial dysmorphism syndrome