monarch-initiative/mondo: v2026-02-03

<details> <summary>New terms: 11</summary>

| Mondo ID | Label | Definition | |:---|:---|:---| | MONDO:1010182 | premenstrual dysphoric disorder | A severe form of premenstrual syndrome (PMS) that involves significant emotional and physical symptoms in the week or two before a period. | | MONDO:1010183 | macular telangiectasia type 2 | A macular telangiectasia that causes slow deterioration of central vision, typically appearing in people between the ages of 50 and 60. It is characterized by the dilation and leakage of blood vessels in the macula, the part of the retina responsible for sharp, detailed vision, and is also linked to neurodegeneration in retinal cells. | | MONDO:1010184 | macular telangiectasia | An eye disorder characterized by retinal capillary network incompetence, dilatations, and thinning which can be uniocular or binocular and causes gradual deterioration of central vision. | | MONDO:1010185 | transplant rejection | A disease related to transplantation that occurs when transplant tissue is rejected by the recipient's immune system, which destroys the transplanted tissue. | | MONDO:1010186 | hyperacute transplant rejection | A transplant rejection that appears in the first minutes following transplantation and occurs only in vascularized grafts. This very fast rejection is characterized by vessels thrombosis leading to graft necrosis. Hyperacute rejection is caused by the presence of antidonor antibodies existing in the recipient before transplantation. These antibodies induce both complement activation and stimulation of endothelial cells to secrete Von Willebrand procoagulant factor, resulting in platelet adhesion and aggregation. The result of these series of reactions is the generation of intravascular thrombosis leading to lesion formation and ultimately to graft loss. | | MONDO:1010187 | acute transplant rejection | A transplant rejection that is caused by an immune response directed against the graft and occurs between 1 week and several months after transplantation. Acute rejection is diagnosed on histological analysis of a graft biopsy. Acute rejection is thought to result from two immunological mechanisms that may act alone or in combination: (1) a T-cell-dependent process that corresponds to acute cellular rejection, and (2) a B-cell-dependent process that generates the acute humoral rejection. | | MONDO:1010188 | chronic transplant rejection | An insidious form of transplant rejection that leads to graft destruction over months to years after tissue transplantation. Chronic rejection can be mediated by either humoral or cellular mechanisms linked to memory/plasma cells and antibodies. The presence of tertiary lymphoid organs in the graft is a characteristic of this form of rejection. | | MONDO:1060190 | APP-related brain and vascular amyloidosis | A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage. | | MONDO:1060191 | ciliopathy-IFT74 | Any ciliopathy caused by variants in the IFT74 gene. | | MONDO:1060194 | FAS-related autoimmune lymphoproliferative syndrome | An autoimmune lymphoproliferative syndrome that results from defective lymphocyte homoestasis, and is caused by variants in the FAS gene. It is characterized by non-malignant lymphoproliferation, autoimmune disease, and lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. | | MONDO:1060195 | SH2B3-related immune system disorder | A predisposition caused by a mutation in SH2B3 gene that presents with myeloproliferation and/or multi-organ autoimmunity. |

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<details> <summary>Terms renamed (excluding obsoleted terms): 6</summary>

| ID | Old Label | New Label | |:---|:---|:---| | MONDO:0018013 | non-immunoglobulin-mediated membranoproliferative glomerulonephritis | complement 3 glomerulopathy | | MONDO:0012398 | retinal cone dystrophy 3A | achromatopsia 6 | | MONDO:0012727 | mucocutaneous lymph node syndrome | Kawasaki disease | | MONDO:0014306 | vasculitis due to ADA2 deficiency | deficiency of adenosine deaminase 2 | | MONDO:0018146 | idiopathic macular telangiectasia type 1 | macular telangiectasia type 1 | | MONDO:0018147 | idiopathic macular telangiectasia type 3 | macular telangiectasia type 3 |

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<details> <summary>Text definitions added to existing terms: 4</summary>

| Mondo ID | Label | New Text Definition | |:---|:---|:---| | MONDO:0004919 | infected hydrocele | A hydrocele that has active infection and inflammation of the fluid-filled sac surrounding a testicle, caused by microbial invasion, with clinical features such as pain, swelling, redness, or systemic signs of infection. The infection often arises from contiguous genitourinary or anorectal sources and is confirmed by microbiological evidence. | | MONDO:0018013 | complement 3 glomerulopathy | A rare primary membranoproliferative glomerulonephritis characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples. | | MONDO:0012398 | achromatopsia 6 | Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive. | | MONDO:0971179 | arterial tortuosity-bone fragility syndrome | A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood. |

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<details> <summary>Text definitions changed: 13</summary>

| Mondo ID | Label | Old Text Definition | New Text Definition | |:---|:---|:---|:---| | MONDO:0004169 | premenstrual tension | A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. | A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. | | MONDO:0004813 | tuberculous pneumothorax | A pneumothorax in which air enters into the pleural cavity. | A pneumothorax caused by tuberculosis infection, typically resulting from rupture of a cavitary tuberculous lesion into the pleural space. | | MONDO:0005838 | mansonelliasis | A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. | A parasitic infection caused by the nematode Mansonella, including M. ozzardi, M. perstans (Dipetalonema perstans), and M. streptocerca (Dipetalonema streptocerca). Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. | | MONDO:0015746 | male infertility due to globozoospermia | Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. | A male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida following intercourse or IVF thus fertilization fails. Fertilization efficiency is also very low following intracytoplasmic spem injection due to the absence of the oocyte activation factor protein PLCzeta. | | MONDO:0009461 | spermatogenic failure 5 | Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). | A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). | | MONDO:0010483 | X-linked intellectual disability, Cantagrel type | X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. | An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. | | MONDO:0100080 | cardioectodermal syndrome | Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. | A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. | | MONDO:0012727 | Kawasaki disease | Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. | A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. | | MONDO:0013293 | isolated microphthalmia 6 | Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. | Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos. | | MONDO:0014306 | deficiency of adenosine deaminase 2 | Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. | A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered. | | MONDO:0018146 | macular telangiectasia type 1 | A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. | A rare, acquired, macular telangiectasia characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. | | MONDO:0018147 | macular telangiectasia type 3 | A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. | A rare, acquired, macular telangiectasia characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. | | MONDO:0019736 | dense deposit disease | Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. | A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits. |

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<details> <summary>Terms obsoleted with replacement: 3</summary>

| Mondo ID | Label | Replacement | |:---|:---|:---| | MONDO:0005731 | obsolete dipetalonemiasis | mansonelliasis (MONDO:0005838) | | MONDO:0100317 | obsolete deficiency of adenosine deaminase 2 | deficiency of adenosine deaminase 2 (MONDO:0014306) | | MONDO:0800197 | obsolete achromatopsia 6 | achromatopsia 6 (MONDO:0012398) |

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<details> <summary>Terms obsoleted without replacement: 0</summary>

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

| Mondo ID | Label | |:---|:---| | MONDO:0008284 | polyposis of gastric fundus without polyposis coli | | MONDO:0020300 | autosomal dominant nocturnal frontal lobe epilepsy | | MONDO:0016061 | immunodeficiency with factor H anomaly | | MONDO:0600011 | mild hypophosphatasia | | MONDO:0700044 | TUBB2A-related tubulinopathy | | MONDO:0859244 | phosphoribosylaminoimidazole carboxylase deficiency |

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<details> <summary>Terms that were previously candidates for obsoletion and are now not anymore: 1</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0100080 | cardioectodermal syndrome |

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