monarch-initiative/mondo: v2025-07-01

<details> <summary>New terms: 66</summary>

| Term | ----| | neurodevelopmental disorder with poor growth, seizures, and brain abnormalities (MONDO:0976265) | | monilethrix-3 (MONDO:0700342) | | B-lymphoblastic leukemia with MEF2D rearrangement (MONDO:0975862) | | holoprosencephaly 10 (MONDO:0976262) | | diarrhea 14, congenital (MONDO:0976266) | | post 5-alpha-reductase inhibitors treatment syndrome (MONDO:0975897) | | B-lymphoblastic leukemia with PAX5alt (MONDO:0975865) | | acute myeloid leukemia with MNX1-ETV6 fusion (MONDO:0975871) | | gastric duplication (MONDO:0971082) | | acute myeloid leukemia with NPM1-MLF1 fusion (MONDO:0975872) | | polycystic kidney disease 9, susceptibility to (MONDO:0976267) | | colonic duplication (MONDO:0971084) | | gallbladder duplication (MONDO:0971083) | | vasa previa (MONDO:0971089) | | pulmonary langerhans cell histiocytosis (MONDO:0975907) | | fibrotic hypersensitivity pneumonitis (MONDO:0975896) | | reticular dysgenesis-like severe combined immunodeficiency (MONDO:0975911) | | ACTN2-related cardiac and skeletal myopathy (MONDO:0700349) | | SPATA7-related retinopathy (MONDO:1040070) | | MKS1-related ciliopathy (MONDO:1040068) | | congenital high airway obstruction syndrome (MONDO:1060125) | | ALG8-related autosomal dominant polycystic kidney and/or liver disease (MONDO:1060122) | | B-lymphoblastic leukemia with TCF3-HLF fusion (MONDO:0975866) | | single-system multifocal langerhans cell histiocytosis (MONDO:0975908) | | 10p15 microdeletion syndrome (MONDO:0975904) | | adenoacanthoma (MONDO:1060121) | | diarrhea 15, congenital (MONDO:0976268) | | ARL6-related ciliopathy (MONDO:1040065) | | Tayoun-Maawali syndrome (MONDO:0976286) | | monilethrix-1 (MONDO:0700343) | | isolated congenital cholesteatoma of the middle ear (MONDO:0975902) | | neurodevelopmental disorder with white matter abnormalities and gait disturbance (MONDO:0976264) | | CFAP46-related primary ciliary dyskinesia (MONDO:1010146) | | COL4A1/A2-related disorder (MONDO:1010150) | | multisystem langerhans cell histiocytosis (MONDO:0975909) | | B-lymphoblastic leukemia with ZNF384 rearrangement (MONDO:0975867) | | isolated congenital femoral bifurcation (MONDO:0971109) | | neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (MONDO:0976263) | | CEP164-related ciliopathy (MONDO:0700344) | | non-fibrotic hypersensitivity pneumonitis (MONDO:0975895) | | B-lymphoblastic leukemia with NUTM1 rearrangement (MONDO:0975864) | | REEP6-related retinopathy (MONDO:1040066) | | monilethrix-2 (MONDO:0700341) | | KCNV2-related retinopathy (MONDO:1040063) | | asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome (MONDO:0975918) | | congenital disorder of glycosylation type 1EE with or without immunodeficiency (MONDO:0976261) | | neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities (MONDO:0976285) | | combined immunodeficiency due to TBX1 deficiency (MONDO:0975891) | | acute myeloid leukemia with FUS-ERG fusion (MONDO:0975870) | | B-lymphoblastic leukemia with MYC rearrangement (MONDO:0975863) | | post-selective serotonin reuptake inhibitor sexual dysfunction (MONDO:0975898) | | unifocal langerhans cell histiocytosis (MONDO:0975906) | | adenoid ameloblastoma (MONDO:0975925) | | small intestine duplication (MONDO:0971086) | | acute myeloid leukemia with CBFA2T3-GLIS2 fusion (MONDO:0975868) | | mesothelioma of the tunica vaginalis (MONDO:0975890) | | CRX-related retinopathy (MONDO:1040064) | | pyloric duplication (MONDO:0971085) | | benign skeletal muscle neoplasm (MONDO:1010148) | | splenic venous malformation (MONDO:0975910) | | hypertrophic olivary degeneration (MONDO:0975885) | | acquired hypothalamic obesity (MONDO:0975922) | | intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome (MONDO:0975882) | | cranioectodermal dysplasia 5 (MONDO:0976269) | | 10p13-p14 deletion syndrome (MONDO:0975905) | | 2q13 microdeletion syndrome (MONDO:0975887) |

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<details> <summary>Terms renamed: 6</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0032854 | zimmermann-laband syndrome 3 | Zimmermann-Laband syndrome 3 | | MONDO:0017343 | Epstein-Barr virus-associated malignant lymphoproliferative disorder | Epstein-Barr virus-associated lymphoproliferative disorder | | MONDO:0013889 | short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | short stature-optic atrophy-Pelger-Huët anomaly syndrome | | MONDO:0012128 | transposition of the great arteries, dextro-looped | obsolete transposition of the great arteries, dextro-looped | | MONDO:0021952 | autoimmune progesterone dermatitis | progestogen hypersensitivity | | MONDO:0009453 | immune deficiency disease | obsolete immune deficiency disease |

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<details> <summary>Text definitions added: 31</summary>

| Term | New Text Definition | ----|----| | ALG8-related autosomal dominant polycystic kidney and/or liver disease (MONDO:1060122) | An autosomal dominant disease caused by variants in the ALG8 gene that is characterized by incomplete penetrance and a range of clinical manifestations, spanning from individuals with normal kidneys to those with numerous kidney cysts and chronic kidney disease (CKD). While the common presentation involves a limited number of kidney cysts and maintained kidney function, severe polycystic liver disease (PLD) with minimal kidney involvement (ADPLD) can also occur. | | cysts and fistulae of the face and oral cavity (MONDO:0015476) | An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas. | | maple bark strippers' lung (MONDO:0004584) | A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease. | | benign skeletal muscle neoplasm (MONDO:1010148) | A benign mesenchymal neoplasm arising from skeletal muscle tissue. | | KCNV2-related retinopathy (MONDO:1040063) | Any retinopathy caused by variants in the KCNV2 gene. | | Caroli syndrome (MONDO:0018808) | A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. | | CRX-related retinopathy (MONDO:1040064) | Any retinopathy caused by a variant in the CRX gene. | | nasal dorsum fistula/cyst (MONDO:0015410) | A rare otorhinolaryngologic disease characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists. | | ARL6-related ciliopathy (MONDO:1040065) | Any ciliopathy caused by variants in the ARL6 gene. | | MKS1-related ciliopathy (MONDO:1040068) | Any ciliopathy caused by variants in the MKS1 gene. | | REEP6-related retinopathy (MONDO:1040066) | Any retinopathy caused by variants in the REEP6 gene. | | ACTN2-related cardiac and skeletal myopathy (MONDO:0700349) | A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase. | | preauricular fistulae, congenital (MONDO:0007501) | A congenital disorder characterized by malformations of the external ear, which is caused by the first and second branchial arch dysplasia or the first branchial groove insufficiency in the embryonic stage. | | CFAP46-related primary ciliary dyskinesia (MONDO:1010146) | Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene. | | adenoacanthoma (MONDO:1060121) | An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells. | | non-syndromic anorectal malformation with rectourethral fistula, prostatic type (MONDO:0035783) | A congenital anorectal disorder characterized by the presence of a fistulous connection between the rectum and the prostatic urethra in the males, occuring in isolation without associated syndromic anomalies. | | congenital systemic arteriovenous fistula (MONDO:0016078) | A rare, potentially life-threatening, vascular disease characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings. | | angiokeratoma corporis diffusum with arteriovenous fistulas (MONDO:0010885) | A rare hereditary vascular disease characterized by the presence of multiple angiokeratomas (small, dark red to purple skin lesions) and abnormal connections between arteries and veins (arteriovenous fistulas). | | fibrotic hypersensitivity pneumonitis (MONDO:0975896) | A chronic, progressive lung disease characterized by inflammation and scarring (fibrosis) of the lung tissue, caused by an immune response to inhaled antigens. | | SPATA7-related retinopathy (MONDO:1040070) | Any retinopathy caused by variants in the SPATA7 gene. | | non-syndromic anorectal malformation with rectourethral fistula, bulbar type (MONDO:0035782) | A congenital anorectal disorder characterized by an abnormal fistulous connection between the rectum and the bulbar urethra in males, occurring in isolation without associated syndromic anomalies. | | narcolepsy 3 (MONDO:0012179) | A rare, autosomal dominant form of narcolepsy mapped to chromosome 21q, between genetic markers D21S267 and ABCG1. 6 patients with the milder form were DQB1*0602-positive. | | CEP164-related ciliopathy (MONDO:0700344) | Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity. | | congenital high airway obstruction syndrome (MONDO:1060125) | A rare, life-threatening fetal condition resulting complete or partial obstruction of the fetal upper airways. Laryngeal atresia is the most frequent cause, but other etiologies, such as laryngeal cyst, subglottic stenosis or atresia, tracheal atresia, and laryngeal or tracheal agenesis are also included. | | COL4A1/A2-related disorder (MONDO:1010150) | A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene. | | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (MONDO:0957267) | A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. | | Zimmermann-Laband syndrome 3 (MONDO:0032854) | Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNN3 gene. It is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia | | central sleep apnea due to periodic breathing (MONDO:0024359) | A sleep-related disorder characterized by cyclical breathing patterns where periods of shallow or absent breathing (apneas or hypopneas) alternate with periods of deeper breathing (hyperpnea). This cyclical pattern is caused by an instability in the body's respiratory control system, where the brain doesn't properly regulate breathing effort. | | diffuse alveolar hemorrhage (MONDO:0019540) | A respiratory disorder characterized by diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis. | | bilateral massive adrenal hemorrhage (MONDO:0017871) | A serious adrenal gland disorder characterized by acute bleeding into both adrenal glands. It is associated with illnesses such as severe sepsis, congestive heart failure, autoimmune etiologies such as antiphospholipid syndrome, the use of anticoagulants; especially in the setting of heparin-induced thrombocytopenia, as well as severe physical stress such as trauma and surgery. | | Epstein-Barr virus-associated lymphoproliferative disorder (MONDO:0017343) | A range of lymphoproliferative diseases characterized by uncontrolled proliferation of B cells, T cells, or NK cells infected with Epstein-Barr virus. Depending on host immunity and viral factors, viral persistence in host cells can induce lymphoproliferation with a diverse clinical spectrum ranging from simple reactive hyperplasia to aggressive lymphoma/leukemia with unique clinical and pathological presentations. |

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<details> <summary>Text definitions changed: 29</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | Zimmermann-Laband syndrome (MONDO:0000200) | Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. | A rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. | | Burkitt lymphoma (MONDO:0007243) | Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. | A rare form of malignant mature B-cell non-Hodgkin lymphoma. | | congenital arteriovenous fistula (MONDO:0020296) | An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. | A congenital vascular disorder characterized byan abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others. | | primary effusion lymphoma (MONDO:0018842) | Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). | A large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). | | diffuse large B-cell lymphoma with chronic inflammation (MONDO:0017601) | Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. | An Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. | | spinocerebellar ataxia, autosomal recessive 24 (MONDO:0014934) | Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. | Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. | | extranodal nasal NK/T cell lymphoma (MONDO:0019472) | Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. | A rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. | | lymphomatoid granulomatosis (MONDO:0019466) | Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. | A very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. | | systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood (MONDO:0018223) | Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. | A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. | | esophageal atresia/tracheoesophageal fistula (MONDO:0008586) | Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. | A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress. | | mushroom workers' lung (MONDO:0005865) | An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. | An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. | | acquired aneurysmal subarachnoid hemorrhage (MONDO:0019543) | Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. | A serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. | | congenital bronchobiliary fistula (MONDO:0016080) | Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. | A rare congenital respiratory disorder characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. | | fetal akinesia-cerebral and retinal hemorrhage syndrome (MONDO:0014149) | Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. | A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. | | hemorrhage, intracerebral, susceptibility to (MONDO:0100533) | An inherited susceptibility or predisposition to developing intracerebral hemorrhage. | An inherited disease susceptibility or predisposition to developing intracerebral hemorrhage. | | progestogen hypersensitivity (MONDO:0021952) | Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. | Progestogen hypersensitivity (PH), also referred to as autoimmune progesterone dermatitis (APD), is a rare immediate or delayed hypersensitivity reaction to endogenous progesterone and/or synthetic progestins characterized by diverse cutaneous manifestations, bronchospasm, and/or anaphylaxis. | | lower lip fistula (MONDO:0015382) | A cysts and fistulae of the face and oral cavity that involves the lower lip. | A rare otorhinolaryngologic disease characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur. | | Hodgkins lymphoma (MONDO:0004952) | Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. | A heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. | | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly (MONDO:0017346) | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. | A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. | | acute adrenal insufficiency (MONDO:0019801) | Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. | A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. | | commissural lip fistula (MONDO:0015381) | A cysts and fistulae of the face and oral cavity that involves the labial commissure. | A rare otorhinolaryngologic disease characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection. | | isolated tracheo-esophageal fistula (MONDO:0018694) | A congenital or acquired abnormal communication between the trachea and the esophagus. | A rare, congenital, esophageal disorder characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood. | | coronary arterial fistulas (MONDO:0016081) | Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. | A congenital disorder characterized by an abnormal connection between one or more of the coronary arteries and a cardiac chamber or great vessel. | | farmer's lung disease (MONDO:0001971) | Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. | A hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. | | obsolete transposition of the great arteries, dextro-looped (MONDO:0012128) | Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. | OBSOLETE. Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. | | house allergic alveolitis (MONDO:0020535) | House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. | A hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. | | subarachnoid hemorrhage (MONDO:0005099) | Intracranial hemorrhage into the subarachnoid space. | A serious neurological disorder characterized by intracranial hemorrhage into the subarachnoid space. | | pinnae fistula or cyst (MONDO:0015477) | Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. | A rare otorhinolaryngological disease characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. | | intracerebral hemorrhage (MONDO:0013792) | Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. | A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. |

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<details> <summary>Terms obsoleted with replacement: 0</summary>

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<details> <summary>Terms obsoleted without replacement: 2</summary>

| Term | ----| | obsolete immune deficiency disease (MONDO:0009453) | | obsolete transposition of the great arteries, dextro-looped (MONDO:0012128) |

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<details> <summary>New obsoletion candidates: 6</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0000638 | benign glioma | | MONDO:0003723 | blunt duct adenosis of breast | | MONDO:0025303 | anaplasmosis | | MONDO:0017770 | Robinow-like syndrome | | MONDO:0020474 | cheirospondyloenchondromatosis | | MONDO:0035122 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |

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<details> <summary>Terms that were previously candidates for obsoletion and are now not anymore:6</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0018234 | dysostosis | | MONDO:0005493 | carbon monoxide-induced delayed encephalopathy | | MONDO:0021135 | rare or common | | MONDO:0021136 | rare | | MONDO:0021137 | not rare | | MONDO:0024360 | central sleep apnea caused by high altitude |

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