monarch-initiative/mondo: v2026-06-02

<details> <summary>New terms: 1882 = 6 human diseases + 1876 non-human animal (only 20 displayed here)</summary>

| Mondo ID | Label | Definition | |:---|:---|:---| | MONDO:1060224 | STAT5 haploinsufficiency | A condition characterized by haploinsufficient levels of STAT5 protein due to reduced copy number or expression of the STAT5A and/or STAT5B genes, with consequent attenuation of STAT5-mediated cytokine signalling (including IL-7 and growth hormone pathways). This condition is also associated with altered lymphocyte homeostasis and modified susceptibility to lymphoma development. | | MONDO:1060225 | TTN-related myopathy, dominant-negative TTNsv | A skeletal muscle disorder caused by heterozygous multi-exon in-frame structural variants of TTN (TTNsv) that escape nonsense-mediated decay and result in expression of an internally deleted titin isoform with dominant-negative effects on sarcomere structure and function. Affected individuals typically present with congenital, childhood-onset, or adult-onset proximal and/or distal muscle weakness, often accompanied by joint contractures, and may develop respiratory involvement or cardiomyopathy. | | MONDO:1060226 | MCM9-related gametogenic failure | A disorder of sexual differentiation caused by biallelic variation in the MCM9 gene. Affected females (46,XX) may present with primary ovarian insufficiency or ovarian dysgenesis with short stature; affected males (46,XY) may present with non-obstructive azoospermia due to meiotic failure. Biallelic MCM9 variants have also been associated with predisposition to early-onset colorectal cancer, polyposis, gastric cancer, and germ cell tumors. | | MONDO:1060227 | systemic lupus erythematosus related to C1QC | Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QC gene. | | MONDO:1060228 | systemic lupus erythematosus related to C1QB | Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QB gene. | | MONDO:7770747 | hepatic fibrinogen storage disease | An autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum. | | MONDO:1013793 | aural adenocarcinoma, non-human animal | | | MONDO:1013794 | aural hematoma, non-human animal | | | MONDO:1013795 | auricular chondritis, non-human animal | | | MONDO:1013796 | complete deafness, non-human animal | | | MONDO:1013797 | partial deafness, non-human animal | | | MONDO:1013798 | chronic ear disease, non-human animal | | | MONDO:1013799 | bacterial ear infection, non-human animal | | | MONDO:1013800 | fungal ear infection, non-human animal | | | MONDO:1013802 | chronic otitis externa, non-human animal | | | MONDO:1013803 | otitis externa of meatus and canal, non-human animal | | | MONDO:1013804 | otitis externa of pinna, non-human animal | | | MONDO:1013805 | infective otitis externa, non-human animal | | | MONDO:1013806 | acute otitis media, non-human animal | Infectious otitis media that occurs in non-human animals. | | MONDO:1013807 | chronic otitis media, non-human animal | Chronic otitis media that occurs in non-human animals. | | MONDO:1013808 | infective otitis media, non-human animal | | | MONDO:1013809 | ear mass, non-human animal | | | MONDO:1013810 | traumatic ear canal avulsion, non-human animal | | | MONDO:1013811 | ear cutaneous squamous cell carcinoma, non-human animal | | | MONDO:1013812 | ear canal polyp, non-human animal | | | MONDO:1013813 | guttural pouch disorder, non-human animal | | | ... | 1856 new terms not displayed | |

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<details> <summary>Terms renamed (excluding obsoleted terms): 1</summary>

| Mondo ID | Old Label | New Label | |:---|:---|:---| | MONDO:0020040 | 46,XY disorder of sex development | 46 XY differences of sex development |

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

| Mondo ID | Label | New Text Definition | |:---|:---|:---| | MONDO:0044640 | Charcot-Marie-Tooth disease type 2T | A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. | | MONDO:0017926 | multiple paragangliomas associated with polycythemia | A syndrome caused by early postzygotic mosaic gain-of-function mutations in EPAS1 (encoding hypoxia-inducible factor 2 alpha, HIF-2alpha), characterized by multiple paragangliomas, somatostatinomas, and polycythemia, with variable vascular malformations and neural tube defects. | | MONDO:0859003 | PAICS deficiency | An inborn disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers. | | MONDO:0859257 | intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene. | | MONDO:0957874 | neuronopathy, distal hereditary motor, autosomal recessive 9 | A rare autosomal recessive distal hereditary motor neuropathy caused by a mutation in the COQ7 gene, characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present. |

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<details> <summary>Text definitions changed: 1</summary>

| Mondo ID | Label | Old Text Definition | New Text Definition | |:---|:---|:---|:---| | MONDO:0013947 | neuronopathy, distal hereditary motor, autosomal recessive 5 | Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. | A rare autosomal recessive distal hereditary motor neuropathy caused by a variation in DNAJB2 gene, characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. |

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<details> <summary>Terms obsoleted with replacement: 6</summary>

| Mondo ID | Label | Replacement | |:---|:---|:---| | MONDO:0859244 | obsolete phosphoribosylaminoimidazole carboxylase deficiency | PAICS deficiency (MONDO:0859003) | | MONDO:0958129 | obsolete COQ7-related distal hereditary motor neuropathy | neuronopathy, distal hereditary motor, autosomal recessive 9 (MONDO:0957874) | | MONDO:0014866 | obsolete Charcot-Marie-Tooth disease axonal type 2T | Charcot-Marie-Tooth disease type 2T (MONDO:0044640) | | MONDO:0008284 | obsolete polyposis of gastric fundus without polyposis coli | gastric adenocarcinoma and proximal polyposis of the stomach (MONDO:0017790) | | MONDO:0005719 | obsolete Coronavinae infectious disease | Orthocoronavirinae infectious disease (MONDO:0020753) | | MONDO:0100025 | obsolete epilepsy of infancy with migrating focal seizures | malignant migrating partial seizures of infancy (MONDO:0017385) |

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

| Mondo ID | Label | |:---|:---|

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<details> <summary>New obsoletion candidates: 8</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0011271 | rigid spine muscular dystrophy 1 | | MONDO:0019398 | desmin-related myopathy with Mallory body-like inclusions | | MONDO:0030528 | immunodeficiency 93 and hypertrophic cardiomyopathy | | MONDO:0035694 | combined immunodeficiency due to RELA haploinsufficiency | | MONDO:0100351 | POLD1-related polyposis and colorectal cancer syndrome | | MONDO:0970994 | immunodeficiency 120 | | MONDO:0975834 | immunodeficiency 128 | | MONDO:0976228 | immunodeficiency 132b |

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<details> <summary>Terms that were previously candidates for obsoletion and are now not anymore: 0</summary>

| Mondo ID | Label | |:---|:---|

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