monarch-initiative/mondo: v2025-11-04

<details> <summary>New terms: 40</summary>

| Term | ----| | GABRA4-related neurodevelopmental disorder with seizures (MONDO:0700358) | | CDHR1-related retinopathy (MONDO:0700375) | | HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome (MONDO:0700354) | | type 5 diabetes mellitus (MONDO:1010179) | | PCCB-related propionic acidemia (MONDO:1060183) | | TRA2B-related neurodevelopmental disorder (MONDO:0700364) | | CFAP418-related ciliopathy (MONDO:0700374) | | FEZF2-related neurodevelopmental disorder (MONDO:0700369) | | ACTC1-related distal arthrogryposis with congenital heart disease (MONDO:0700352) | | GUCA1A-related retinopathy (MONDO:0700376) | | ARF3-related neurodevelopmental disorder (MONDO:0700366) | | HDAC3-related neurodevelopmental disorder (MONDO:0700370) | | WDR5-related neurodevelopmental disorder (MONDO:0700365) | | severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (MONDO:0700371) | | WDPCP-related ciliopathy (MONDO:0700378) | | KDM2B-related neurodevelopmental disorder (MONDO:0700363) | | ATXN7L3-related developmental delay, hypotonia and facial dysmorphism (MONDO:0700355) | | SDCCAG8-related ciliopathy (MONDO:0700379) | | CBX1-related neurodevelopmental disorder (MONDO:0700367) | | pediatric acute-onset neuropsychiatric syndrome (MONDO:1060178) | | RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity (MONDO:1060179) | | RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700362) | | KCNK3-related developmental delay with sleep apnea (MONDO:0700360) | | PCCA-related propionic acidemia (MONDO:1060182) | | macular dystrophy, retinal, 5 (MONDO:0700381) | | developmental and epileptic encephalopathy 119 (MONDO:1060177) | | EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition (MONDO:1060184) | | AFG3L2-related optic atrophy and/or spastic ataxia spectrum (MONDO:0700372) | | brain stem glioblastoma (MONDO:1060180) | | EPB41L3-related developmental disorder with delayed myelination and seizures (MONDO:0700357) | | DDX17-related neurodevelopmental disorder (MONDO:0700368) | | FAM111A-related skeletal dysplasia (MONDO:1060172) | | RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700361) | | DIP2C-related developmental disorder with speech delay (MONDO:0700356) | | systemic lupus erythematosus 18 (MONDO:1060185) | | GABRD-related neurodevelopmental disorder with epilepsy (MONDO:0700359) | | avoidant/restrictive food intake disorder (MONDO:7770002) | | RHO-related retinopathy (MONDO:0700380) | | NDP-related vitreoretinopathy (MONDO:0700377) | | CNOT9-related developmental disorder with seizures (MONDO:0700353) |

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<details> <summary>Terms renamed: 6</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0014391 | severe combined immunodeficiency due to CTPS1 deficiency | combined immunodeficiency due to CTPS1 deficiency | | MONDO:0001999 | primary pulmonary hypertension | idiopathic pulmonary arterial hypertension | | MONDO:0009935 | pulmonary hypertension, primary, autosomal recessive | pulmonary hypertension, primary, 5 | | MONDO:0003537 | precursor T-lymphoblastic lymphoma/leukemia | T lymphoblastic leukemia/lymphoma | | MONDO:0035122 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | obsolete GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | | MONDO:0017147 | idiopathic pulmonary arterial hypertension | obsolete idiopathic pulmonary arterial hypertension |

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<details> <summary>Text definitions added: 41</summary>

| Term | New Text Definition | ----|----| | type 5 diabetes mellitus (MONDO:1010179) | Any diabetes mellitus caused by an inability of the pancreas to produce enough insulin due to underdeveloped pancreatic tissue resulting from prolonged undernutrition. | | NDP-related vitreoretinopathy (MONDO:0700377) | Any vitreoretinopathy caused by a variant in the NDP gene, including cases diagnosed as Norrie disease or X-linked exudative vitreoretinopathy 2. | | ARF3-related neurodevelopmental disorder (MONDO:0700366) | A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities. | | severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (MONDO:0700371) | Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. | | CFAP418-related ciliopathy (MONDO:0700374) | Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64. | | FAM111A-related skeletal dysplasia (MONDO:1060172) | Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene. | | WDPCP-related ciliopathy (MONDO:0700378) | Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly. | | systemic lupus erythematosus 18 (MONDO:1060185) | Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene. | | RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700362) | A neurodevelopmental disorder caused by variation in the RFX4 gene. This disorder is characterised by global developmental delay and/or intellectual disability, and behavioural abnormalities including documented autism spectrum disorder. | | WDR5-related neurodevelopmental disorder (MONDO:0700365) | A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities. | | RHO-related retinopathy (MONDO:0700380) | Any retinopathy caused by a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4. | | avoidant/restrictive food intake disorder (MONDO:7770002) | An eating disorder characterized by avoidance or restriction of food intake due to one or more of the following: lack of interest in eating or food, sensitivity to sensory characteristics of food (such as taste, texture, smell, or appearance), or concern about aversive consequences of eating (such as choking or vomiting), resulting in persistent failure to meet appropriate nutritional and/or energy needs as manifested by significant weight loss, nutritional deficiency, dependence on enteral feeding or nutritional supplements, or marked interference with psychosocial functioning, and where the eating disturbance is not better explained by lack of available food, cultural or religious practices, another mental disorder, or a concurrent medical condition. | | SDCCAG8-related ciliopathy (MONDO:0700379) | Any ciliopathy caused by variants in the SDCCAG8 gene, including cases diagnosed as Bardet-Biedl syndrome 16 or Senior-Loken syndrome 7. | | GABRD-related neurodevelopmental disorder with epilepsy (MONDO:0700359) | A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities. | | GUCA1A-related retinopathy (MONDO:0700376) | Any retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14. | | GABRA4-related neurodevelopmental disorder with seizures (MONDO:0700358) | A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability. | | DIP2C-related developmental disorder with speech delay (MONDO:0700356) | A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies. | | CDHR1-related retinopathy (MONDO:0700375) | Any retinopathy caused by variants in the CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65. | | brain stem glioblastoma (MONDO:1060180) | A glioblastoma localized in the brain stem. | | DDX17-related neurodevelopmental disorder (MONDO:0700368) | A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities. | | PCCB-related propionic acidemia (MONDO:1060183) | Any propionic acidemia in which the cause of the disease is a variation in PCCB gene. | | RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity (MONDO:1060179) | A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity | | EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition (MONDO:1060184) | Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma. | | ACTC1-related distal arthrogryposis with congenital heart disease (MONDO:0700352) | A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy. | | FEZF2-related neurodevelopmental disorder (MONDO:0700369) | A neurodevelopmental disorder caused by variation in the FEZF2 gene. This disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, and/or attention deficit hyperactivity disorder. | | HDAC3-related neurodevelopmental disorder (MONDO:0700370) | A neurodevelopmental disorder caused by variation in the HDAC3 gene. This disorder is characterised by intellectual disability and neurodevelopmental delay. Phenotypes commonly reported include musculoskeletal abnormalities, abnormalities of the genitourinary system, and brain imaging abnormalities. Other phenotypes observed less frequently include microcephaly, hearing impairments, congenital heart disease, and autistic behavior. | | developmental and epileptic encephalopathy 119 (MONDO:1060177) | A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures. | | KDM2B-related neurodevelopmental disorder (MONDO:0700363) | A neurodevelopmental disorder caused by variation in the KDM2B gene. This disorder is characterised by speech delay, developmental delay, learning difficulties, and/or intellectual disability. Patients often present behavioral abnormalities including including autism and attention deficit hyperactivity disorder. Other phenotypic features commonly reported include heart defects, unilateral kidney agenesis, ophthalmological anomalies, broad nasal tip, large ear lobes, and exaggerated Cupid's bow. | | HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome (MONDO:0700354) | A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies. | | PCCA-related propionic acidemia (MONDO:1060182) | Any propionic acidemia in which the cause of the disease is a variation in PCCA gene. | | ATXN7L3-related developmental delay, hypotonia and facial dysmorphism (MONDO:0700355) | A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities | | renal infectious disease (MONDO:0004369) | An infectious disease that involves the kidney. | | pediatric acute-onset neuropsychiatric syndrome (MONDO:1060178) | An autoimmune disorder that involves a constellation of psychiatric and neurologic symptoms that present simultaneously and in rapid onset, the cause or causes of which are unknown. Although the cause is still under investigation, the manifestations may follow a recent infection. | | CBX1-related neurodevelopmental disorder (MONDO:0700367) | A neurodevelopmental disorder caused by variation in the CBX1 gene. This disorder is characterised by global motor and language developmental delay, intellectual disability, hypotonia, autism spectrum disorder, and variable dysmorphic features. | | RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700361) | A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities. | | CNOT9-related developmental disorder with seizures (MONDO:0700353) | A neurodevelopmental disorder caused by variation in the CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities. | | EPB41L3-related developmental disorder with delayed myelination and seizures (MONDO:0700357) | A neurodevelopmental disorder caused by variation in the EPB41L3 gene. This disorder is characterised by global developmental delay, mild to moderate intellectual disability, early-onset seizures, and delayed myelination. Additional brain MRI abnormalities include thin corpus callosum, mild cerebellar atrophy, hyperintensities in the posterior limb of internal capsule and pyramidal tract. Other phenotypic features commonly reported include dystonia, strabismus, spasticity, tremors, and autistic features. | | AFG3L2-related optic atrophy and/or spastic ataxia spectrum (MONDO:0700372) | Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia. | | optic atrophy 10 with or without ataxia, intellectual disability, and seizures (MONDO:0020737) | An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures. | | TRA2B-related neurodevelopmental disorder (MONDO:0700364) | A neurodevelopmental disorder caused by variation in the TRA2B gene. This disorder is characterised by intellectual disability and/or developmental delay, with delayed or absent speech and delayed motor development. Most patients present axial or global hypotonia in the neonatal to infancy period, and brain MRI abnormalities. Other phenotypic features commonly reported include infantile spasms, microcephaly, variable behavioral abnormalities, feeding difficulties, and short stature. | | KCNK3-related developmental delay with sleep apnea (MONDO:0700360) | A neurodevelopmental disorder caused by variation in the KCNK3 gene. This disorder is characterised by global developmental delay, central and/or obstructive sleep apnea. hypotonia, and feeding difficulties. Most patients also present structural malformations, including microcephaly, arthrogryposis/flexion contractures, scoliosis, cleft palate and bilateral talipes, with some facial dysmorphology, and ambiguous genitalia in male probands. |

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<details> <summary>Text definitions changed: 4</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | osteocraniostenosis (MONDO:0011215) | Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. | A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. | | idiopathic pulmonary arterial hypertension (MONDO:0001999) | Increased blood pressure in the arteries of the lungs; the etiology is unknown. | A sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. The etiology is unknown. | | combined immunodeficiency due to CTPS1 deficiency (MONDO:0014391) | Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. | Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. | | propionic acidemia (MONDO:0011628) | Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. | An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. |

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<details> <summary>Terms obsoleted with replacement: 2</summary>

| Term | Replacement | ----|----| | obsolete GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder (MONDO:0035122) | intellectual disability, autosomal dominant 6 (MONDO:0013509) | | obsolete idiopathic pulmonary arterial hypertension (MONDO:0017147) | idiopathic pulmonary arterial hypertension (MONDO:0001999) |

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

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<details> <summary>New obsoletion candidates: 1</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0004914 | celiac artery stenosis from compression by median arcuate ligament of diaphragm |

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

| Mondo ID | Label | |:---|:---| | MONDO:0033482 | spinocerebellar ataxia 47 |

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