monarch-initiative/mondo: v2026-09-01

New terms: 9 | Mondo ID | Label | Definition | |:---|:---|:---| | MONDO:0100594 | chronic idiopathic axonal polyneuropathy | Any chronic polyneuropathy with both sensory and motor involvement in a length dependant distribution where neurophysiology reveals axonal damage, neuropathy onset is insidious and shows slow or no progression of the disease over at least 6 months with no aetiology being identified despite appropriate investigations. | | MONDO:1060247 | SMARCAL1-related tumor predisposition | Hereditary tumor predisposition due to variation(s) in the SMARCAL12 gene. | | MONDO:1060248 | IMPDH2-related disorder | An ultra-rare hereditary neurological disorder caused by a variation in the IMPDH2 gene, which encodes a key enzyme involved in guanine nucleotide biosynthesis and purine metabolism. The phenotype spans a spectrum from neurodevelopmental delay, intellectual disability, dystonia, tremor, and other movement abnormalities, with variable expressivity and age of onset. | | MONDO:1060249 | atypical teratoid rhabdoid tumor, SHH-activated | An atypical teratoid rhabdoid tumor characterized by overexpression of genes in the sonic hedgehog (SHH) pathway (GLI2, BOC, PTCHD2, and MYCN). | | MONDO:1060250 | atypical teratoid rhabdoid tumor, MYC-activated | An atypical teratoid rhabdoid tumor characterized by overexpression of the MYC gene. | | MONDO:1060251 | atypical teratoid rhabdoid tumor, TYR-activated | An atypical teratoid rhabdoid tumor characterized by overexpression of melanosomal genes (TYR, TYRP, MITF, and OTX2). | | MONDO:1060252 | intracranial mesenchymal tumor, FET-CREB fusion-positive | A central nervous system mesenchymal non-meningothelial tumor with a broad morphological spectrum, characterized by fusion of a FET family gene (usually EWSR1 and rarely FUS) with a member of the CREB family of transcription factors (CREB1, ATF1, or CREM). It includes entities previously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. It is usually located in the supratentorial brain and mostly affects children and young adults. There is a spectrum of clinical behaviors ranging from slowly growing tumors to rapid recurrences, and rarely metastases. | | MONDO:1060253 | desmoplastic myxoid tumor of the pineal region, SMARCB1-mutant | A pineal body neoplasm that is a SMARCB1-deficient tumor of the brain, characterized by the presence of spindled and epithelioid cells with low-grade morphology that are embedded in a desmoplastic stroma alternating with various extents of loose myxoid matrix. | | MONDO:1060254 | cribriform neuroepithelial tumor | A very rare, nonrhabdoid, intraventricular tumor with relatively favorable prognosis. It is characterized by the presence of neuroepithelial cells forming cribriform patterns, trabeculae, epithelial membrane antigen immunopositivity on epithelial surfaces, and loss of nuclear INI1 expression. | Terms renamed (excluding obsoleted terms): 4 | Mondo ID | Old Label | New Label | |:---|:---|:---| | MONDO:0010829 | CARASIL syndrome | cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 | | MONDO:0100100 | SELENON-related myopathy | congenital myopathy 3 with rigid spine | | MONDO:0100009 | structural congenital heart disease, multiple types - GATA4 | GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes | | MONDO:0100540 | GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes | Text definitions added to existing terms: 10 | Mondo ID | Label | New Text Definition | |:---|:---|:---| | MONDO:0008554 | thrombocythemia 1 | Any familial thrombocytosis caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by sustained thrombocythemia from excessive thrombopoietin signaling that ranges from asymptomatic thrombocytosis to thrombotic or hemorrhagic episodes, with rare progression to leukemic transformation. | | MONDO:0020747 | sitosterolemia 1 | Any sitosterolemia caused by a variation in the ABCG8 gene, characterized by increased intestinal absorption and reduced biliary excretion of plant sterols, leading to markedly elevated plasma sitosterol and related phytosterols, xanthomas, and premature atherosclerosis/coronary disease. Some patients develop hematologic manifestations, including stomatocytic hemolysis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. In some cases the hematologic phenotype can be the presenting or only sign. Biallelic loss‑of‑function variants in ABCG8 impair the heterodimeric transporter that normally limits sterol absorption and promotes biliary sterol excretion, explaining the biochemical and clinical findings. | | MONDO:0020748 | sitosterolemia 2 | Any sitosterolemia caused by a variation in the ABCG5 gene, characterized by markedly increased intestinal absorption and reduced biliary excretion of plant sterols, resulting in extremely elevated plasma sitosterol levels, tendon and tuberous xanthomas, and premature atherosclerosis. A subset of affected individuals develop hematologic manifestations, including stomatocytic hemolysis, macrothrombocytopenia, splenomegaly, and abnormal bleeding, and in some cases these hematologic findings may be the initial or only clinical signs. Biallelic loss‑of‑function variants in ABCG5 impair the heterodimeric ABCG5/ABCG8 transporter required for limiting dietary sterol uptake and promoting biliary excretion, leading to membrane sterol accumulation in multiple blood cell types. | | MONDO:0030903 | Hermansky-Pudlak syndrome 11 | A Hermansky-Pudlak syndrome caused by biallelic variants in the BLOC1S5 gene, resulting in melanosome defects and absence of platelet dense granules, and characterized by mild oculocutaneous albinism with reduced visual acuity and a moderate platelet-type bleeding diathesis with impaired platelet aggregation and ATP release. Reported cases to date suggest a relatively mild systemic course compared with other subtypes. | | MONDO:0031009 | Glanzmann thrombasthenia 2 | A platelet type bleeding disorder characterized by lifelong mucocutaneous bleeding, severely impaired platelet aggregation, and absent or markedly reduced clot retraction due to loss of αIIbβ3‑mediated fibrinogen binding. Platelet number and morphology are typically normal, but responses to physiologic agonists, such as ADP, collagen, epinephrine, and thrombin are severely diminished or absent, while ristocetin‑induced agglutination is preserved. Biallelic loss‑of‑function ITGB3 variants result in reduced or absent β3 integrin production, preventing assembly or surface expression of the αIIbβ3 receptor complex and producing the characteristic Glanzmann thrombasthenia phenotype. | | MONDO:0044316 | thrombocytopenia, anemia, and myelofibrosis | An inherited thrombocytopenia caused by a variation in the MPIG6B gene, which impairs the inhibitory signaling of the G6b-B receptor on megakaryocytes and platelets, characterized by thrombocytopenia, variable anemia, and progressive bone-marrow fibrosis, often with splenomegaly and abnormal platelet activation and megakaryocyte maturation. | | MONDO:0060583 | platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | A multisytem disorder caused by a variation in the ARPC1B gene, characterized by recurrent bacterial and viral infections beginning in infancy or early childhood, accompanied by inflammatory manifestations such as vasculitis, eczema, colitis, hepatosplenomegaly, and systemic autoinflammation. Affected individuals show congenital thrombocytopenia with variable platelet abnormalities including small, misshapen platelets and dense‑granule defect, and additional laboratory findings such as eosinophilia and elevated IgE or IgA. Functional studies demonstrate defects in neutrophil and T‑cell chemotaxis and impaired T‑cell activation caused by abnormal F‑actin polymerization, consistent with loss of ARPC1B function. | | MONDO:0859200 | cerebellar ataxia, brain abnormalities, and cardiac conduction defects | A neurodevelopmental disorder caused by a variation in the EXOSC5 gene, characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Some patients have thrombotic microangiopathy. Additional clinical features may includevariable ocular anomalies and dysmorphic features. | | MONDO:0957575 | amegakaryocytic thrombocytopenia, congenital, 2 | A congenital amegakaryocytic thrombocytopenia caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by infantile- or early childhood-onset thrombocytopenia with markedly reduced or absent megakaryocytes, often progressing to pancytopenia, aplastic anemia, and hypocellular bone marrow, with decreased or inappropriately normal serum thrombopoietin. | | MONDO:0958000 | thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Any inherited thrombocytopenia caused by a variation in the RAP1B gene, which encodes a small GTPase that regulates integrin activation and RAS/MAPK signaling, characterized by chronic thrombocytopenia (often with leukopenia or lymphopenia), dysmorphic facial features, poor growth with microcephaly, hypotonia, mild intellectual or learning disability, and variable congenital anomalies of the heart, brain, skeletal, genitourinary, or endocrine systems. | Text definitions changed: 19