monarch-initiative/mondo: v2026-04-07

<details> <summary>New terms: 63</summary>

| Mondo ID | Label | Definition | |:---|:---|:---| | MONDO:0100633 | toxic polyneuropathy | Polyneuropathy that is caused by exposure to toxins. | | MONDO:0100634 | traumatic neuropathy | A peripheral neuropathy resulting from a traumatic event. | | MONDO:0100635 | radiation-induced neuropathy | A peripheral neuropathy caused by exposure to radiation, resulting in damage to one or more peripheral nerves. | | MONDO:0100636 | corticosteroid myopathy | A drug-induced myopathy caused by exposure to corticosteroids. | | MONDO:0100637 | drug-induced myopathy | A myopathy caused by exposure to a drug. | | MONDO:0100638 | endocrine myopathy | A metabolic myopathy associated with an endocrine disorder. | | MONDO:0100639 | vasculitic neuropathy | A peripheral neuropathy that arises as a consequence of vasculitis, characterized by nerve damage resulting from inflammation of blood vessels. | | MONDO:0100640 | chronic idiopathic neuropathy | Chronic and idiopathic form of peripheral neuropathy. | | MONDO:0100641 | chemotherapy-induced neuropathy | A peripheral neuropathy that arises as a consequence of exposure to chemotherapy. | | MONDO:0100642 | infectious neuropathy | A peripheral neuropathy caused by infection. | | MONDO:0100643 | vitamin deficiency related neuropathy | A peripheral neuropathy that arises as a consequence of a vitamin deficiency. | | MONDO:0100644 | paraproteinemia-associated neuropathy | A peripheral neuropathy that arises as a consequence of paraproteinemia. | | MONDO:0100645 | neuropathy in cryoglobulinemia | A peripheral neuropathy that arises as a consequence of cryoglobulinemia. | | MONDO:0100646 | neuropathy in endocrine disorder | A peripheral neuropathy that arises as a consequence of an endocrine disorder. | | MONDO:0100647 | sarcoid neuropathy | A peripheral neuropathy occurring in the context of sarcoidosis. | | MONDO:0700321 | CACNA1C-related disorder | Any human disease (syndromic or non syndromic) in which the cause of the disease is a variation in the CACNA1C gene. | | MONDO:0700322 | tinnitus | A central nervous system dysperception disorder characterized by the perception of a sound not justified by any internal or external vibration, lasting at least 5 minutes and occurring more than once a week, arising from maladaptive neuroplasticity secondary to an organic cochlear peripheral lesion, and classifiable as positive auditory hallucinosis in the absence of delusional attitudes or behaviors. | | MONDO:0700323 | systemic lupus erythematosus related to C4A | Any systemic lupus erythematosus in which the cause of the disease is a variation in the C4A gene. | | MONDO:0700324 | SMAD6-related disease | A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis. | | MONDO:0700325 | Parkes Weber syndrome | A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present. | | MONDO:0975708 | dialysis disequilibrium syndrome | A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. | | MONDO:0976294 | ragopathy | A syndrome caused by a variation in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. | | MONDO:0976301 | cardiovascular-kidney-metabolic syndrome | A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. | | MONDO:0979885 | acute calcific periarthritis | A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. | | MONDO:0979905 | ptosis, hereditary congenital, 1 | | | MONDO:0980735 | left ventricular failure | A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. | | MONDO:0980737 | arterionephrosclerosis | A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. | | MONDO:0980739 | muscle dysmorphic disorder | A body dysmorphic disorder characterized by a persistent belief that one's physique is insufficiently muscular or lean, even when having a normal-to-very muscular build. | | MONDO:0980767 | lipofibromatosis | A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally. | | MONDO:0980986 | scoliosis, isolated, susceptibility to, 6 | | | MONDO:0980987 | xeroderma pigmentosum, complementation group J | | | MONDO:0980988 | epilepsy, idiopathic generalized 20 | | | MONDO:0980989 | dystonia 38, susceptibility to | | | MONDO:0980990 | neurodevelopmental disorder with parkinsonism or other movement abnormalities | | | MONDO:0980991 | microcephaly 31, primary, autosomal recessive | | | MONDO:0980992 | Meier-Gorlin syndrome 9 | | | MONDO:0980997 | fibromuscular dysplasia of the cervical and intracranial arteries | | | MONDO:0980998 | fibromuscular dysplasia of the renal arteries | | | MONDO:0980999 | fibromuscular dysplasia of the coronary arteries | | | MONDO:0981000 | fibromuscular dysplasia of the visceral arteries | | | MONDO:0981001 | fibromuscular dysplasia of the arteries of the extremities | | | MONDO:0981004 | sickle cell S-Lepore disease | | | MONDO:0981005 | sickle cell S-O Arab disease | | | MONDO:0981007 | early-onset idiopathic chronic pancreatitis | | | MONDO:0981008 | late-onset idiopathic chronic pancreatitis | | | MONDO:0981022 | cardiomyopathy, dilated, 3C | | | MONDO:0981023 | spondylocostal dysostosis 7, autosomal recessive | | | MONDO:0981024 | neurodegenerative disorder with cerebellar and caudate atrophy | | | MONDO:1010193 | TNNT2-related cardiomyopathy | A genetically heterogeneous cardiac disorder caused by pathogenic variants in the TNNT2 gene and inherited in an autosomal dominant manner. Affected individuals present with a spectrum of cardiomyopathy phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Clinical features may include heart failure, ventricular arrhythmias, and sudden cardiac death. Overlapping or mixed cardiomyopathy phenotypes, as well as variable expressivity within families, have also been reported. | | MONDO:1010194 | KY-related neuromyopathy | Any neuromyopathy in which the cause of the disease is mutation in the KY gene. | | MONDO:1010200 | oocyte/zygote/embryo maturation arrest 16 | Any inherited oocyte maturation defect marked by early embryonic arrest and female infertility due to a varition in the PADI6 gene. | | MONDO:1010204 | GPR161-related medulloblastoma predisposition | A predisposition to medulloblastoma, a tumor that originates in the cerebellum and dorsal brainstem, has a peak incidence in childhood, and makes up a large proportion of embryonal brain tumors due to a variation in the GPR161 gene. | | MONDO:1060211 | NR5A1-related sex development disorder | A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female. | | MONDO:1060212 | CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder | A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy. | | MONDO:1060213 | reticular pseudodrusen | A retinal drusen characterized by subretinal deposits located internal to the retinal pigment epithelium, composed of material aggregations in the subretinal space between photoreceptors and the retinal pigment epithelium. These deposits have a bluish-white appearance by biomicroscopy and appear as hyperreflective lesions above the retinal pigment epithelium on optical coherence tomography. | | MONDO:1060214 | SYCE1-related gametogenic failure | An infertility disorder caused by variation in the SYCE1 gene. Affected males may present with non-obstructive azoospermia due to maturation arrest or meiotic failure, while affected females may present with primary ovarian insufficiency. | | MONDO:1060215 | preneoplastic lesion | A precancerous condition characterized by accumulation of some molecular alterations necessary for malignant transformation in a clonal proliferation of cells, representing an intermediate stage in carcinogenesis with increased risk of progression to invasive neoplasia. | | MONDO:7770006 | disease by body system or component | A grouping class for human diseases classified by the body system or anatomical component primarily affected. | | MONDO:7770007 | disease by developmental or physiological process | A grouping class for human diseases classified by the molecular, biochemical, cellular, anatomic, developmental or physiological process that is disrupted. | | MONDO:7770008 | disease by etiologic mechanism | A grouping class for human diseases classified by their etiologic mechanism, encompassing primarily intrinsic (genetic, genomic), primarily extrinsic (e.g., infections, toxins, radiation), and complex multifactorial (e.g. nutritional) causes. | | MONDO:7770009 | disease of genetic or genomic mechanism | A grouping class for human diseases caused by genetic or genomic alterations, including chromosomal abnormalities and heritable mutations. | | MONDO:7770010 | disease of primarily extrinsic mechanism | A grouping class for human diseases caused primarily by extrinsic factors, including infections, toxins, nutritional deficiencies, iatrogenic causes, and environmental exposures. | | MONDO:7770011 | disease by molecular mechanism | A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption. |

</details>

<details> <summary>Terms renamed (excluding obsoleted terms): 12</summary>

| Mondo ID | Old Label | New Label | |:---|:---|:---| | MONDO:0008340 | ptosis, hereditary congenital, 1 | congenital ptosis | | MONDO:0043693 | alcoholic liver diseases | alcoholic liver disease | | MONDO:0002083 | Richter syndrome | Richter transformation | | MONDO:0008695 | chorea-acanthocytosis | VPS13A-related neurodegenerative disease | | MONDO:0010714 | Pelizeaus-Merzbacher spectrum disorder | Pelizaeus-Merzbacher spectrum disorder | | MONDO:0018945 | McLeod neuroacanthocytosis syndrome | XK-related neurodegenerative disease | | MONDO:0011236 | hyperinsulinism due to glucokinase deficiency | hyperinsulinemic hypoglycemia, familial, 3 | | MONDO:0013773 | porencephaly 2 | brain small vessel disease 2A, autosomal dominant | | MONDO:0014602 | Hogue-Janssens syndrome 1 | Houge-Janssens syndrome 1 | | MONDO:0014820 | mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) | | MONDO:0023124 | familial pulmonary arterial hypertension leucopenia and atrial septal defect | Dursun syndrome | | MONDO:0859008 | neurofibromatosis/schwannomatosis | mosaic neurofibromatosis/schwannomatosis |

</details>

<details> <summary>Text definitions added to existing terms: 5</summary>

| Mondo ID | Label | New Text Definition | |:---|:---|:---| | MONDO:0004372 | chronic toxic polyneuropathy | Neuropathy affecting multiple nerves that is caused by prolonged exposure to toxic substances. | | MONDO:0044720 | cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy. | | MONDO:0023124 | Dursun syndrome | A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect. | | MONDO:0033838 | radiation-induced plexopathy | A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral. | | MONDO:0859152 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | A neurodevelopmental disorder caused by variation in the GEMIN5 gene, characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. |

</details>

<details> <summary>Text definitions changed: 5</summary>

| Mondo ID | Label | Old Text Definition | New Text Definition | |:---|:---|:---|:---| | MONDO:0002083 | Richter transformation | Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. | Transformation of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) into a more aggressive type of lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying CLL/SLL, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. | | MONDO:0006645 | alcoholic polyneuropathy | Any disease affecting more than one nerve. | Any polyneuropathy where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. | | MONDO:0008695 | VPS13A-related neurodegenerative disease | Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. | A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene. | | MONDO:0011236 | hyperinsulinemic hypoglycemia, familial, 3 | Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. | A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. | | MONDO:0014000 | congenital heart defects, multiple types, 2 | Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. | Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene. |

</details>

<details> <summary>Terms obsoleted with replacement (merged): 13</summary>

| Mondo ID | Label | Replacement | |:---|:---|:---| | MONDO:0004914 | obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm | MONDO:0017388 (celiac trunk compression syndrome) | | MONDO:0009027 | obsolete cramps, familial adolescent | MONDO:0007402 (creatine phosphokinase, elevated serum) | | MONDO:0010553 | obsolete Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined | MONDO:0010549 (Charcot-Marie-Tooth disease X-linked dominant 1) | | MONDO:0011961 | obsolete hereditary sensory and autonomic neuropathy type 1B | MONDO:0044720 (cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome) | | MONDO:0013935 | obsolete Usher syndrome type 1J | MONDO:0012273 (autosomal recessive nonsyndromic hearing loss 48) | | MONDO:0020300 | obsolete autosomal dominant nocturnal frontal lobe epilepsy | MONDO:0000030 (familial sleep-related hypermotor epilepsy) | | MONDO:0023243 | obsolete glass-chapman-hockley syndrome | MONDO:0011274 (Muenke syndrome) | | MONDO:0034820 | obsolete cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | MONDO:0976127 (Muggenthaler-Chowdhury-Chioza syndrome) | | MONDO:0035529 | obsolete infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | MONDO:0020840 (pulmonary alveolar proteinosis with hypogammaglobulinemia) | | MONDO:0035660 | obsolete GNAO1-related developmental delay-seizures-movement disorder spectrum | MONDO:0060491 (neurodevelopmental disorder with involuntary movements) | | MONDO:0035661 | obsolete TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | MONDO:0032572 (cardiac, facial, and digital anomalies with developmental delay) | | MONDO:0035774 | obsolete NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | MONDO:0013690 (Pitt-Hopkins-like syndrome 2) | | MONDO:0700044 | obsolete TUBB2A-related tubulinopathy | MONDO:0014337 (complex cortical dysplasia with other brain malformations 5) |

</details>

<details> <summary>Terms obsoleted without replacement: 1</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0009327 | obsolete heart, malformation of |

</details>

<details> <summary>New obsoletion candidates: 16</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0020683 | acute disease | | MONDO:0024666 | benign epithelial skin neoplasm | | MONDO:0002961 | large cell acanthoma | | MONDO:0003653 | stork bite | | MONDO:0004387 | luteoma of pregnancy | | MONDO:0005073 | melanocytic nevus | | MONDO:0006905 | pigmented spindle cell nevus | | MONDO:0044793 | spitz nevus | | MONDO:0007676 | glutathione transferase activity toward trans-stilbene oxide | | MONDO:0008093 | nevus, epidermal | | MONDO:0008576 | toe, fifth, number of phalanges 1N | | MONDO:0012486 | preauricular tag, isolated, autosomal dominant, 1 | | MONDO:0021834 | Akaba Hayasaka syndrome | | MONDO:0044796 | spindle cell nevus | | MONDO:0859205 | delayed puberty, self-limited | | MONDO:0971094 | cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation |

</details>

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

| Mondo ID | Label | |:---|:---| | MONDO:0023124 | Dursun syndrome |

</details>