monarch-initiative/mondo: v2025-12-02

<details> <summary>New terms: 60</summary>

| Term | ----| | rhabdomyolysis, susceptibility to (MONDO:0979250) | | Houge-Janssens syndrome 4 (MONDO:0978293) | | Nil-Deshwar neurodevelopmental syndrome (MONDO:0979246) | | SCN5A-related cardiac rhythm disorder (MONDO:1010181) | | fanconi anemia, complementation group 10 (MONDO:0979241) | | retinal dystrophy, X-linked, Gardner-Hardcastle type (MONDO:0978292) | | neurodevelopmental disorder with ataxia and brain abnormalities (MONDO:0978300) | | spermatogenic failure 100 (MONDO:0978302) | | cranioectodermal dysplasia 6 (MONDO:0979883) | | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MONDO:0979249) | | FICUS syndrome (MONDO:0978296) | | leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy (MONDO:0979226) | | spermatogenic failure 99 (MONDO:0978297) | | PPOX-related hepatic porphyria (MONDO:0700383) | | maturity-onset diabetes of the young, type 12 (MONDO:0978299) | | cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (MONDO:0979240) | | spastic paraplegia 30A, autosomal dominant (MONDO:0700307) | | combined oxidative phosphorylation deficiency 60 (MONDO:0978298) | | developmental dysplasia of the hip 4 (MONDO:0979872) | | porphyria, acute intermittent, nonerythroid variant (MONDO:0700384) | | Ververi-Brady syndrome (MONDO:0979877) | | oocyte/zygote/embryo maturation arrest 23 (MONDO:0979231) | | brain small vessel disease 4 (MONDO:0979873) | | developmental and epileptic encephalopathy 118 (MONDO:0979238) | | brain small vessel disease 5 with osteoporosis (MONDO:0979880) | | ICHAD syndrome (MONDO:0979234) | | congenital myopathy 26 (MONDO:0979229) | | oocyte/zygote/embryo maturation arrest 24 (MONDO:0979232) | | cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 (MONDO:0979867) | | short-rib thoracic dysplasia 22 without polydactyly (MONDO:0979242) | | neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (MONDO:0979875) | | autoimmune disease, multisystem, infantile-onset, 5 (MONDO:0979235) | | immunodysregulation with variable immunodeficiency and autoimmunity (MONDO:0979233) | | cardiomyopathy, dilated, 1QQ (MONDO:0979239) | | Popov-Chang syndrome (MONDO:0979865) | | retinitis pigmentosa 100 (MONDO:0979574) | | oculovertebral syndrome (MONDO:0979866) | | Li-Takada-Miyake syndrome (MONDO:0978303) | | Diamond-Blackfan anemia 22 (MONDO:0979244) | | intellectual developmental disorder, autosomal dominant 76 (MONDO:0979575) | | neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities (MONDO:0979245) | | spermatogenic failure 101 (MONDO:0979572) | | pulmonary hypertension, primary, 7 (MONDO:0979237) | | HMBS-related hepatic porphyria (MONDO:0700382) | | Guillouet-Gordon syndrome (MONDO:0979227) | | retinitis pigmentosa 99 (MONDO:0978291) | | LSM7-related leukodystrophy and cerebellar atrophy (MONDO:0978294) | | neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (MONDO:0978301) | | craniofaciocardiohepatic syndrome (MONDO:0978295) | | spastic paraplegia 18b, autosomal recessive (MONDO:0700309) | | Wilms tumor 7 (MONDO:0979876) | | spastic ataxia 11, autosomal dominant (MONDO:0979230) | | cardiogenetic rhythm disorder (MONDO:1010180) | | Alsahan-Harris syndrome (MONDO:0979871) | | immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy (MONDO:0979570) | | exudative vitreoretinopathy 8 (MONDO:0979571) | | cardiomyopathy, dilated, 2l (MONDO:0979236) | | cardiomyopathy, familial hypertrophic, 31 (MONDO:0979573) | | cardiomyopathy, dilated, 2M (MONDO:0979243) | | ectodermal dysplasia 17 with or without limb malformations (MONDO:0979228) |

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<details> <summary>Terms renamed: 4</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0971149 | spastic paraplegia 30b, autosomal recessive | spastic paraplegia 30B, autosomal recessive | | MONDO:0001859 | algoneurodystrophy | obsolete algoneurodystrophy | | MONDO:0859322 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 | | MONDO:0060707 | Ververi-Brady syndrome | Ververi-Brady syndrome 1 |

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<details> <summary>Text definitions added: 6</summary>

| Term | New Text Definition | ----|----| | porphyria, acute intermittent, nonerythroid variant (MONDO:0700384) | A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme. | | PPOX-related hepatic porphyria (MONDO:0700383) | A hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to <25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation. | | MEGF10-related myopathy (MONDO:0013731) | A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy. | | HMBS-related hepatic porphyria (MONDO:0700382) | A hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia. | | SCN5A-related cardiac rhythm disorder (MONDO:1010181) | A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome. | | cardiogenetic rhythm disorder (MONDO:1010180) | Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation. |

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<details> <summary>Text definitions changed: 10</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | cutaneous porphyria (MONDO:0009902) | Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. | An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms. | | porphyria due to ALA dehydratase deficiency (MONDO:0013000) | An extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. | A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented. | | intellectual disability, autosomal dominant 29 (MONDO:0014482) | Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. | Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms. | | CPOX-related hereditary coproporphyria (MONDO:0800180) | Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene. | A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin. | | OFD1-related ciliopathy (MONDO:1040039) | Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. | Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia. | | X-linked erythropoietic protoporphyria (MONDO:0010420) | X-linked form of erythropoietic protoporphyria. | An erythropoietic protoporphyria in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria. | | complex regional pain syndrome (MONDO:0019369) | Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. | A chronic pain syndrome characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. | | UROD-related inherited porphyria (MONDO:0100498) | Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene. | Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage. | | fetal and neonatal alloimmune thrombocytopenia (MONDO:0019415) | Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. | A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns. | | protoporphyria, erythropoietic, 1 (MONDO:0008319) | Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. | An erythropoietic protoporphyria caused by biallelic variants in FECH (an autosomal recessive inheritance pattern) and causing primarily accumulation of protoporphyrin IX. Symptoms include extremely painful photosensitivity in childhood, possible microcytic anemia, cholelithiasis, and ~5% of patients develop liver failure. The majority of individuals with FECH-related erythropoietic protoporphyria harbor a hypomorphic variant (NM_000140.5:c.315-48T>C), which reduces enzyme levels by ~35%, in trans to a second pathogenic variant. Clinically individuals with this form of porphyria cannot be distinguished from those with ALAS2-related erythropoietic protoporphyria. |

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<details> <summary>Terms obsoleted with replacement: 1</summary>

Term | Replacement | ----|----| | obsolete algoneurodystrophy (MONDO:0001859) | complex regional pain syndrome (MONDO:0019369) |

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

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<details> <summary>New obsoletion candidates: 7</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0009327 | heart, malformation of | | MONDO:0009027 | cramps, familial adolescent | | MONDO:0010553 | Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined | | MONDO:0011961 | hereditary sensory and autonomic neuropathy type 1B | | MONDO:0013935 | Usher syndrome type 1J | | MONDO:0023124 | familial pulmonary arterial hypertension leucopenia and atrial septal defect | | MONDO:0023243 | glass-chapman-hockley syndrome |

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

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