monarch-initiative/mondo: v2025-08-05

<details> <summary>New terms: 24</summary>

| Term | ----| | GRIN2A-related self-limited epilepsy with centrotemporal spikes (MONDO:1060142) | | atherosclerotic cardiovascular disease (MONDO:1060134) | | equine juvenile spinocerebellar ataxia, FDXR-related, horse (MONDO:7770001) | | GRIN disorder (MONDO:1060138) | | adult hypophosphatasia (MONDO:1010154) | | ocular growth disorder (MONDO:0100581) | | BMPR1A-related juvenile polyposis syndrome (MONDO:0700348) | | GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:1060140) | | ARHGAP29-related non-syndromic orofacial cleft (MONDO:1060132) | | infantile hypophosphatasia (MONDO:1010169) | | SDHC-related Mitochondrial Disease (MONDO:0700347) | | gallbladder disease 4 (MONDO:1010151) | | PIK3R1-related immunodeficiency and SHORT syndrome (MONDO:1060136) | | GRIN1-related neurodevelopmental disorder (MONDO:1060123) | | CSF1R-related disorder (MONDO:0100632) | | GRIN2A-related disorder (MONDO:1060139) | | childhood hypophosphatasia (MONDO:1010168) | | TMEM127-related tumor predisposition (MONDO:0700345) | | exogenous Cushing syndrome (MONDO:1060126) | | OFD1-related ciliopathy (MONDO:1040039) | | BMP4-related ocular growth disorder (MONDO:0100613) | | autosomal dominant nebulin-related myopathy (MONDO:1010152) | | GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome (MONDO:1060141) | | MAX-related tumor predisposition (MONDO:0700346) |

</details>

<details> <summary>Terms renamed: 97</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0032617 | mitochondrial complex 1 deficiency, nuclear type 11 | mitochondrial complex I deficiency, nuclear type 11 | | MONDO:0013602 | paragangliomas 5 | pheochromocytoma/paraganglioma syndrome 5 | | MONDO:0032622 | mitochondrial complex 1 deficiency, nuclear type 17 | mitochondrial complex I deficiency, nuclear type 17 | | MONDO:0027068 | mitochondrial complex 1 deficiency, mitochondrial type 1 | mitochondrial complex I deficiency, mitochondrial type 1 | | MONDO:0032909 | mitochondrial complex 3 deficiency, nuclear type 10 | mitochondrial complex III deficiency, nuclear type 10 | | MONDO:0032613 | mitochondrial complex 1 deficiency, nuclear type 8 | mitochondrial complex I deficiency, nuclear type 8 | | MONDO:0005259 | Asperger syndrome | obsolete Asperger syndrome | | MONDO:0016191 | qualitative or quantitative defects of titin | neuromuscular disease caused by qualitative or quantitative defects of titin | | MONDO:0700299 | ACTH-independent macronodular adrenal hyperplasia-3 | ACTH-independent macronodular adrenal hyperplasia 3 | | MONDO:0032608 | mitochondrial complex 1 deficiency, nuclear type 3 | mitochondrial complex I deficiency, nuclear type 3 | | MONDO:0033646 | mitochondrial complex 4 deficiency, nuclear type 12 | mitochondrial complex IV deficiency, nuclear type 12 | | MONDO:0011544 | paragangliomas 3 | pheochromocytoma/paraganglioma syndrome 3 | | MONDO:0032634 | mitochondrial complex 1 deficiency, nuclear type 31 | mitochondrial complex I deficiency, nuclear type 31 | | MONDO:0032619 | mitochondrial complex 1 deficiency, nuclear type 14 | mitochondrial complex I deficiency, nuclear type 14 | | MONDO:0016145 | qualitative or quantitative defects of dysferlin | neuromuscular disease caused by qualitative or quantitative defects of dysferlin | | MONDO:0032620 | mitochondrial complex 1 deficiency, nuclear type 15 | mitochondrial complex I deficiency, nuclear type 15 | | MONDO:0859761 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | obsolete SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | | MONDO:0032771 | paragangliomas 7 | pheochromocytoma/paraganglioma syndrome 7 | | MONDO:0032632 | mitochondrial complex 1 deficiency, nuclear type 28 | mitochondrial complex I deficiency, nuclear type 28 | | MONDO:0030902 | mitochondrial complex 1 deficiency, nuclear type 36 | mitochondrial complex I deficiency, nuclear type 36 | | MONDO:0850090 | fibrosis-neurodegeneration-cerebral angiomatosis syndrome | obsolete fibrosis-neurodegeneration-cerebral angiomatosis syndrome | | MONDO:0016147 | qualitative or quantitative defects of dystrophin | neuromuscular disease caused by qualitative or quantitative defects of dystrophin | | MONDO:0033635 | mitochondrial complex 4 deficiency, nuclear type 3 | mitochondrial complex IV deficiency, nuclear type 3 | | MONDO:0859321 | mitochondrial complex 3 deficiency, nuclear type 11 | mitochondrial complex III deficiency, nuclear type 11 | | MONDO:0026721 | mitochondrial complex 1 deficiency, nuclear type 30 | mitochondrial complex I deficiency, nuclear type 30 | | MONDO:0016186 | qualitative or quantitative defects of myofibrillar proteins | neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins | | MONDO:0032767 | paragangliomas 6 | pheochromocytoma/paraganglioma syndrome 6 | | MONDO:0032910 | mitochondrial complex 1 deficiency, nuclear type 34 | mitochondrial complex I deficiency, nuclear type 34 | | MONDO:0032629 | mitochondrial complex 1 deficiency, nuclear type 25 | mitochondrial complex I deficiency, nuclear type 25 | | MONDO:0032625 | mitochondrial complex 1 deficiency, nuclear type 21 | mitochondrial complex I deficiency, nuclear type 21 | | MONDO:0018823 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | obsolete X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | MONDO:0032627 | mitochondrial complex 1 deficiency, nuclear type 23 | mitochondrial complex I deficiency, nuclear type 23 | | MONDO:0016194 | qualitative or quantitative defects of nebulin | neuromuscular disease caused by qualitative or quantitative defects of nebulin | | MONDO:0020858 | mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 | | MONDO:0032623 | mitochondrial complex 1 deficiency, nuclear type 18 | mitochondrial complex I deficiency, nuclear type 18 | | MONDO:0032606 | mitochondrial complex 1 deficiency, nuclear type 2 | mitochondrial complex I deficiency, nuclear type 2 | | MONDO:0033653 | mitochondrial complex 4 deficiency, nuclear type 18 | mitochondrial complex IV deficiency, nuclear type 18 | | MONDO:0016195 | qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | | MONDO:0033649 | mitochondrial complex 4 deficiency, nuclear type 14 | mitochondrial complex IV deficiency, nuclear type 14 | | MONDO:0016193 | qualitative or quantitative defects of alpha-actin | neuromuscular disease caused by qualitative or quantitative defects of alpha-actin | | MONDO:0033639 | mitochondrial complex 4 deficiency, nuclear type 10 | mitochondrial complex IV deficiency, nuclear type 10 | | MONDO:0001389 | congenital coronary artery anomaly | obsolete congenital coronary artery anomaly | | MONDO:0033650 | mitochondrial complex 4 deficiency, nuclear type 15 | mitochondrial complex IV deficiency, nuclear type 15 | | MONDO:0018825 | PYCR2-related microcephaly-progressive leukoencephalopathy | obsolete PYCR2-related microcephaly-progressive leukoencephalopathy | | MONDO:0032628 | mitochondrial complex 1 deficiency, nuclear type 24 | mitochondrial complex I deficiency, nuclear type 24 | | MONDO:0032609 | mitochondrial complex 1 deficiency, nuclear type 4 | mitochondrial complex I deficiency, nuclear type 4 | | MONDO:0033645 | mitochondrial complex 4 deficiency, nuclear type 11 | mitochondrial complex IV deficiency, nuclear type 11 | | MONDO:0013266 | intellectual disability, autosomal dominant 20 | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | | MONDO:0032636 | mitochondrial complex 1 deficiency, nuclear type 33 | mitochondrial complex I deficiency, nuclear type 33 | | MONDO:0859762 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | obsolete SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | | MONDO:0018282 | qualitative or quantitative defects of alpha-dystroglycan | neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan | | MONDO:0032612 | mitochondrial complex 1 deficiency, nuclear type 7 | mitochondrial complex I deficiency, nuclear type 7 | | MONDO:0014091 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B | | MONDO:0017303 | qualitative or quantitative defects of tropomyosin | neuromuscular disease caused by qualitative or quantitative defects of tropomyosin | | MONDO:0032624 | mitochondrial complex 1 deficiency, nuclear type 19 | mitochondrial complex I deficiency, nuclear type 19 | | MONDO:0013655 | intellectual disability, autosomal dominant 8 | neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | | MONDO:0032626 | mitochondrial complex 1 deficiency, nuclear type 22 | mitochondrial complex I deficiency, nuclear type 22 | | MONDO:0000066 | mitochondrial complex deficiency | mitochondrial respiratory chain complex deficiency | | MONDO:0032631 | mitochondrial complex 1 deficiency, nuclear type 27 | mitochondrial complex I deficiency, nuclear type 27 | | MONDO:0032635 | mitochondrial complex 1 deficiency, nuclear type 32 | mitochondrial complex I deficiency, nuclear type 32 | | MONDO:0032616 | mitochondrial complex 1 deficiency, nuclear type 10 | mitochondrial complex I deficiency, nuclear type 10 | | MONDO:0009145 | SchC6pf-Schulz-Passarge syndrome | Schöpf-Schulz-Passarge syndrome | | MONDO:0020732 | progeria | obsolete progeria | | MONDO:0033652 | mitochondrial complex 4 deficiency, nuclear type 17 | mitochondrial complex IV deficiency, nuclear type 17 | | MONDO:0032618 | mitochondrial complex 1 deficiency, nuclear type 13 | mitochondrial complex I deficiency, nuclear type 13 | | MONDO:0014453 | immunodeficiency 36 | immunodeficiency 36 with lymphoproliferation | | MONDO:0033651 | mitochondrial complex 4 deficiency, nuclear type 16 | mitochondrial complex IV deficiency, nuclear type 16 | | MONDO:0007273 | paragangliomas 4 | pheochromocytoma/paraganglioma syndrome 4 | | MONDO:0032610 | mitochondrial complex 1 deficiency, nuclear type 5 | mitochondrial complex I deficiency, nuclear type 5 | | MONDO:0016192 | qualitative or quantitative defects of telethonin | neuromuscular disease caused by qualitative or quantitative defects of telethonin | | MONDO:0100503 | DPH5-related diphthamide-deficiency syndrome | obsolete DPH5-related diphthamide-deficiency syndrome | | MONDO:0957115 | neurological muscular channelopathy due to a genetic ryanodine receptor defect | obsolete neurological muscular channelopathy due to a genetic ryanodine receptor defect | | MONDO:0016153 | qualitative or quantitative defects of TRIM32 | neuromuscular disease caused by qualitative or quantitative defects of TRIM32 | | MONDO:0013546 | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | | MONDO:0026720 | mitochondrial complex 1 deficiency, nuclear type 12 | mitochondrial complex I deficiency, nuclear type 12 | | MONDO:0033636 | mitochondrial complex 4 deficiency, nuclear type 4 | mitochondrial complex IV deficiency, nuclear type 4 | | MONDO:0016198 | qualitative or quantitative defects of plectin | neuromuscular disease caused by qualitative or quantitative defects of plectin | | MONDO:0033656 | mitochondrial complex 4 deficiency, nuclear type 21 | mitochondrial complex IV deficiency, nuclear type 21 | | MONDO:0016197 | qualitative or quantitative defects of selenoprotein N1 | neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 | | MONDO:0033638 | mitochondrial complex 4 deficiency, nuclear type 8 | mitochondrial complex IV deficiency, nuclear type 8 | | MONDO:0032621 | mitochondrial complex 1 deficiency, nuclear type 16 | mitochondrial complex I deficiency, nuclear type 16 | | MONDO:0032633 | mitochondrial complex 1 deficiency, nuclear type 29 | mitochondrial complex I deficiency, nuclear type 29 | | MONDO:0033655 | mitochondrial complex 4 deficiency, nuclear type 20 | mitochondrial complex IV deficiency, nuclear type 20 | | MONDO:0010061 | autosomal recessive cerebellar ataxia-blindness-deafness syndrome | obsolete autosomal recessive cerebellar ataxia-blindness-deafness syndrome | | MONDO:0020522 | Ehlers-Danlos syndrome type 7B | obsolete Ehlers-Danlos syndrome type 7B | | MONDO:0008192 | paragangliomas 1 | pheochromocytoma/paraganglioma syndrome 1 | | MONDO:0010939 | low phospholipid associated cholelithiasis | gallbladder disease 1 | | MONDO:0030997 | mitochondrial complex 1 deficiency, nuclear type 37 | mitochondrial complex I deficiency, nuclear type 37 | | MONDO:0032615 | mitochondrial complex 1 deficiency, nuclear type 9 | mitochondrial complex I deficiency, nuclear type 9 | | MONDO:0033637 | mitochondrial complex 4 deficiency, nuclear type 7 | mitochondrial complex IV deficiency, nuclear type 7 | | MONDO:0013547 | mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | | MONDO:0033654 | mitochondrial complex 4 deficiency, nuclear type 19 | mitochondrial complex IV deficiency, nuclear type 19 | | MONDO:0016151 | qualitative or quantitative defects of perlecan | neuromuscular disease caused by qualitative or quantitative defects of perlecan | | MONDO:0016199 | qualitative or quantitative defects of protein SERCA1 | neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 | | MONDO:0032630 | mitochondrial complex 1 deficiency, nuclear type 26 | mitochondrial complex I deficiency, nuclear type 26 | | MONDO:0011121 | paragangliomas 2 | pheochromocytoma/paraganglioma syndrome 2 | | MONDO:0032611 | mitochondrial complex 1 deficiency, nuclear type 6 | mitochondrial complex I deficiency, nuclear type 6 |

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<details> <summary>Text definitions added: 76</summary>

| Term | New Text Definition | ----|----| | ocular growth disorder (MONDO:0100581) | An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions. | | mitochondrial complex 2 deficiency, nuclear type 4 (MONDO:0030974) | An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms. | | immunodeficiency 36 with lymphoproliferation (MONDO:0014453) | A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity. | | fibrosis, neurodegeneration, and cerebral angiomatosis (MONDO:0032651) | Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction. | | mitochondrial complex IV deficiency, nuclear type 7 (MONDO:0033637) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene. | | mismatch repair cancer syndrome 4 (MONDO:0030843) | An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis. | | endogenous Cushing syndrome (MONDO:0957431) | Any Cushing syndrome caused by body's prolonged overproduction of cortisol that can be dependent on or independent of adrenocorticotropic hormone (ACTH). | | Delpire-McNeill syndrome (MONDO:0033667) | Any neurodevelopmental disorder in which the cause of the disease is a mutation in the SLC12A2 gene. It is characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity. | | childhood hypophosphatasia (MONDO:1010168) | Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. | | OFD1-related ciliopathy (MONDO:1040039) | Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. | | mitochondrial complex IV deficiency, nuclear type 20 (MONDO:0033655) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene. | | ACTH-independent macronodular adrenal hyperplasia 3 (MONDO:0700299) | Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the KDM1A gene. | | GRIN2A-related self-limited epilepsy with centrotemporal spikes (MONDO:1060142) | Any self-limited epilepsy with centrotemporal spikes in which the cause of the disease is a variation in GRIN2A gene. | | mitochondrial complex III deficiency, nuclear type 11 (MONDO:0859321) | Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRH gene. | | mitochondrial complex IV deficiency, nuclear type 18 (MONDO:0033653) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene. | | mitochondrial complex I deficiency, nuclear type (MONDO:0100223) | Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I. | | adult hypophosphatasia (MONDO:1010154) | Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. | | GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome (MONDO:1060141) | Any rolandic epilepsy-speech dyspraxia syndrome in which the cause of the disease is a variation in GRIN2A gene. | | mitochondrial respiratory chain complex deficiency (MONDO:0000066) | A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex's proteins or assembly factors. | | CSF1R-related disorder (MONDO:0100632) | Any disease in which the cause of the disease is a variation in the CSF1R gene. | | mitochondrial complex 2 deficiency, nuclear type 3 (MONDO:0030937) | A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations. | | TMEM127-related tumor predisposition (MONDO:0700345) | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the TMEM127 gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma. | | Cushing syndrome due to cortisol-producing adrenocortical adenoma (MONDO:0958258) | A form of endogenous Cushing syndrome characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex. | | GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:1060140) | Any developmental and/or epileptic encephalopathy with spike-wave activation in sleep in which the cause of the disease is a variation in GRIN2A gene. | | mitochondrial complex IV deficiency, nuclear type 14 (MONDO:0033649) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene. | | mitochondrial complex IV deficiency, nuclear type 21 (MONDO:0033656) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COXFA4 gene. | | equine juvenile spinocerebellar ataxia, FDXR-related, horse (MONDO:7770001) | Any spinocerebellar ataxia that occurs in horses due to a variation in the FDXR gene. EJSCA is a degenerative axonopathy characterized by acute onset of ataxia within the first month of life, affecting the pelvic limbs more severely than the thoracic limb and rapidly progressing to inability to stand. | | mitochondrial complex IV deficiency, nuclear type 16 (MONDO:0033651) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene. | | mitochondrial complex IV deficiency, nuclear type 8 (MONDO:0033638) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the TACO1 gene. | | mitochondrial complex IV deficiency, nuclear type 22 (MONDO:0859160) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX16 gene. | | primary intrahepatic lithiasis (MONDO:0018806) | A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. | | ACTH-independent macronodular adrenal hyperplasia 1 (MONDO:0020735) | Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the GNAS1 gene. | | mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 (MONDO:0020858) | Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene. | | mismatch repair cancer syndrome (MONDO:0031219) | A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. | | gallbladder disease 4 (MONDO:1010151) | An inherited susceptibility or predisposition to developing hereditary gallbladder disease in which the cause of the disease is a variation in the ABCG8 gene. | | mitochondrial complex IV deficiency, nuclear type 23 (MONDO:0859520) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene. | | ATR-X-related syndrome (MONDO:0016980) | A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability. | | autosomal dominant nebulin-related myopathy (MONDO:1010152) | Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance. | | mitochondrial complex IV deficiency, nuclear type 4 (MONDO:0033636) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene. | | mitochondrial complex IV deficiency, nuclear type 3 (MONDO:0033635) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX10 gene. | | BMPR1A-related juvenile polyposis syndrome (MONDO:0700348) | An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer. | | GRIN disorder (MONDO:1060138) | A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved. | | childhood-onset autosomal recessive myopathy with external ophthalmoplegia (MONDO:0018206) | A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. | | juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (MONDO:0008278) | An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias. | | infantile hypophosphatasia (MONDO:1010169) | Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. | | Alagille syndrome due to a JAG1 point mutation (MONDO:0016862) | Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys. | | mismatch repair cancer syndrome 2 (MONDO:0030840) | An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer. | | ARHGAP29-related non-syndromic orofacial cleft (MONDO:1060132) | Any orofacial cleft in which the cause of the disease is a mutation in the ARHGAP29 gene. | | mitochondrial complex IV deficiency, nuclear type 1 (MONDO:0700250) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene. | | neonatal epilepsy syndrome (MONDO:0020070) | An epilepsy syndrome that has an onset during the neonatal stage of life. | | mitochondrial complex IV deficiency, nuclear type 15 (MONDO:0033650) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX8A gene. | | mitochondrial complex I deficiency, mitochondrial type (MONDO:0100134) | Any mitochondrial complex I deficiency in which the cause of the disease is a mitochondrial mutation in the complex I subunit genes. | | coronary artery congenital malformation (MONDO:0015203) | A coronary artery disorder characterized by abnormal origin, course, or structure of one or more coronary arteries present at birth. | | mitochondrial complex IV deficiency, nuclear type 19 (MONDO:0033654) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. | | gastrointestinal defect and immunodeficiency syndrome (MONDO:0030831) | A rare hereditary disease characterized by intestinal obstruction and profound combined immune deficiency. | | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder (MONDO:0035122) | A rare genetic syndromic intellectual disability in which the cause of the disease is a variation in the GRIN2B gene. It is characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. | | mitochondrial complex IV deficiency, nuclear type 12 (MONDO:0033646) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene. | | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (MONDO:0859295) | A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages. | | myopathy, proximal, and ophthalmoplegia (MONDO:0011577) | Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance. | | PIK3R1-related immunodeficiency and SHORT syndrome (MONDO:1060136) | A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features. | | MAX-related tumor predisposition (MONDO:0700346) | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the MAX gene, characterized by an increased risk of pheochromocytoma and paraganglioma. | | Wilms tumor 1 (MONDO:0008679) | An autosomal disorder due to pathogenic variants in the WT1 gene leading to an increased risk Wilms tumor and genitourinary abnormalities incorporating Denys-Drash syndrome and Frasier syndrome. | | peroxisome biogenesis disorder 4B (MONDO:0013931) | Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. | | mitochondrial complex III deficiency, nuclear type 10 (MONDO:0032909) | Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the UQCRFS1 gene. | | BMP4-related ocular growth disorder (MONDO:0100613) | Any ocular growth disorder in which the cause of the disease is a mutation in the BMP4 gene. | | Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) | A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations. | | exogenous Cushing syndrome (MONDO:1060126) | A form of Cushing syndrome caused by prolonged exposure or excessive use of cortisteroids, usually from medications taken to treat other conditions. | | mitochondrial complex IV deficiency, nuclear type 11 (MONDO:0033645) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene. | | mitochondrial complex IV deficiency, nuclear type 10 (MONDO:0033639) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX14 gene. | | atherosclerotic cardiovascular disease (MONDO:1060134) | Any cardiovascular disease resulting from atherosclerosis. | | mitochondrial complex IV deficiency, nuclear type 17 (MONDO:0033652) | Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene. | | SDHC-related Mitochondrial Disease (MONDO:0700347) | Mitochondrial complex II deficiency due to pathogenic variants in the SDHC gene, resulting in a variety of clinical manifestations, including neurological and muscular symptoms. | | mismatch repair cancer syndrome 3 (MONDO:0030841) | An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal | | orofacial cleft (MONDO:0000358) | A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. | | GRIN2A-related disorder (MONDO:1060139) | A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features. | | GRIN1-related neurodevelopmental disorder (MONDO:1060123) | A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. |

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<details> <summary>Text definitions changed: 53</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | hereditary nonpolyposis colon cancer (MONDO:0018630) | Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. | A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. | | Lynch syndrome 1 (MONDO:0007356) | Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. | An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages. | | ACTH-dependent Cushing syndrome (MONDO:0020528) | Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). | A group of endogenous Cushing syndrome caused by abnormal production of ACTH due to pituitary adenoma or an extrapituitary tumor. | | multisystemic smooth muscle dysfunction syndrome (MONDO:0013452) | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. | A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease. | | ACTH-independent Cushing syndrome (MONDO:0020529) | Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). | A group of endogenous Cushing syndrome that may result from excess secretion of cortisol by either a unilateral and benign, or malignant adrenocortical tumor, or nodular adrenocortical disease. | | tuberous sclerosis 2 (MONDO:0013199) | Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). | An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions. | | developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:0800501) | A spectrum of conditions with varied degree of cognitive, language, behavioral, and motor regression associated with marked spike-wave activation in sleep. The regression is seen within weeks of the EEG pattern. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy). Landau–Kleffner syndrome is a specific subtype of EE-SWAS, where regression affects mainly language, with an acquired auditory agnosia. | A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy). | | gallbladder disease 1 (MONDO:0010939) | Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. | A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. | | Cushing disease due to pituitary adenoma (MONDO:0009050) | Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. | A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma. | | gastric adenocarcinoma and proximal polyposis of the stomach (MONDO:0017790) | A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder. | An autosomal dominant disorder caused by specific pathogenic variants in the APC gene promoter, characterized by proximal gastric polyposis and an increased risk of gastric adenocarcinoma. | | Coffin-Lowry syndrome (MONDO:0010561) | A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. | A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. | | familial adenomatous polyposis 2 (MONDO:0012041) | An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. | An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas. | | ectopic Cushing syndrome (MONDO:0020527) | Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. | A form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. | | Lynch syndrome 4 (MONDO:0013699) | Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. | An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers. | | hereditary pheochromocytoma-paraganglioma (MONDO:0017366) | Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). | Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). | | Lynch syndrome 2 (MONDO:0012249) | Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. | An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occurring at younger ages. | | PTEN hamartoma tumor syndrome (MONDO:0017623) | A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. | An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. | | hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (MONDO:0019195) | Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. | A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. | | Li-Fraumeni syndrome (MONDO:0018875) | A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). | An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias. | | SHORT syndrome (MONDO:0010026) | SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. | A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. | | Lynch syndrome 5 (MONDO:0013710) | Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. | An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages. | | Lynch syndrome 8 (MONDO:0013196) | Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. | Any hereditary nonpolyposis colon cancer in which the cause of the disease is a heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM. | | retinitis pigmentosa 17 (MONDO:0010945) | Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. | Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. | | cyclic vomiting syndrome (MONDO:0010778) | A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. | A rare functional disorder characterized by recurrent, stereotypical episodes of severe nausea and vomiting separated by symptom-free intervals. Episodes are often accompanied by pallor, lethargy, and abdominal pain. The condition shows a strong association with migraine headaches and may have maternal inheritance patterns suggestive of mitochondrial involvement. | | Lynch syndrome (MONDO:0005835) | An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. | An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. | | multiple endocrine neoplasia type 2A (MONDO:0008234) | Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. | | myelophthisic anemia (MONDO:0005868) | A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. | An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. | | spondylometaphyseal dysplasia, Schmidt type (MONDO:0008478) | Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. | A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. | | early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (MONDO:0017325) | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. | A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. | | superior limbic keratoconjunctivitis (MONDO:0019504) | Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. | A chronic and recurrent eye disease which affects the superior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause of SLK remains unknown, it is believed that the condition is secondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. | | mismatch repair cancer syndrome 1 (MONDO:0010159) | A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. | An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis. | | Schmid metaphyseal chondrodysplasia (MONDO:0007983) | Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. | A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. | | familial adenomatous polyposis 1 (MONDO:0021056) | Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. | An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP). | | immunodeficiency, common variable, due to APRIL deficiency (MONDO:0800149) | Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene. | Any common variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFSF13 gene. | | mitochondrial complex I deficiency, mitochondrial type 1 (MONDO:0027068) | Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. | Any mitochondrial complex I deficiency, mitochondrial type, in which the cause of the disease is a mutation in the MTND3 gene. | | pheochromocytoma/paraganglioma syndrome 3 (MONDO:0011544) | Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST). | | tuberous sclerosis 1 (MONDO:0008612) | Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). | An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions. | | multiple intestinal atresia (MONDO:0009465) | A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. | A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. | | pheochromocytoma/paraganglioma syndrome 2 (MONDO:0011121) | Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas. | | Peutz-Jeghers syndrome (MONDO:0008280) | Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. | An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies. | | hereditary retinoblastoma (MONDO:0018160) | An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. | An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood. | | atherosclerosis (MONDO:0005311) | Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. | A disease characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. | | pancreatic insufficiency-anemia-hyperostosis syndrome (MONDO:0012992) | This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. | A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. | | polysyndactyly 4 (MONDO:0008272) | Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. | Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly. | | pheochromocytoma/paraganglioma syndrome 1 (MONDO:0008192) | Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST). | | multiple endocrine neoplasia type 1 (MONDO:0007540) | Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. | An autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the MEN1 gene, characterized by an increased risk of tumors of the parathyroid glands, pituitary gland, and foregut neuroendocrine tumors (most commonly pancreatic islet cells). | | von Hippel-Lindau disease (MONDO:0008667) | A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. | An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas. | | cholelithiasis (MONDO:0012672) | The presence of calculi in the gallbladder. | The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile. | | Landau-Kleffner syndrome (MONDO:0009509) | Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. | A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia. | | multiple endocrine neoplasia type 2B (MONDO:0008082) | Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. | An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas. | | mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (MONDO:0013546) | A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. | Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. | | pheochromocytoma/paraganglioma syndrome 4 (MONDO:0007273) | Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. | An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST). | | mitochondrial complex III deficiency (MONDO:0015448) | Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). | A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). |

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<details> <summary>Terms obsoleted with replacement: 12</summary>

| Term | Replacement | ----|----| | obsolete SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome (MONDO:0859762) | Delpire-McNeill syndrome (MONDO:0033667) | | obsolete congenital coronary artery anomaly (MONDO:0001389) | coronary artery congenital malformation (MONDO:0015203) | | obsolete neurological muscular channelopathy due to a genetic ryanodine receptor defect (MONDO:0957115) | RYR1-related myopathy (MONDO:0100150) | | obsolete Ehlers-Danlos syndrome type 7B (MONDO:0020522) | Ehlers-Danlos syndrome, arthrochalasia type, 2 (MONDO:0040501) | | obsolete X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (MONDO:0018823) | intellectual disability, X-linked, syndromic 33 (MONDO:0010500) | | obsolete DPH5-related diphthamide-deficiency syndrome (MONDO:0100503) | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (MONDO:0859295) | | obsolete Asperger syndrome (MONDO:0005259) | autism spectrum disorder 1 (MONDO:0100610) | | obsolete SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome (MONDO:0859761) | Kilquist syndrome (MONDO:0033664) | | obsolete progeria (MONDO:0020732) | progeroid syndrome (MONDO:0015333) | | obsolete PYCR2-related microcephaly-progressive leukoencephalopathy (MONDO:0018825) | hypomyelinating leukodystrophy 10 (MONDO:0014632) | | obsolete fibrosis-neurodegeneration-cerebral angiomatosis syndrome (MONDO:0850090) | fibrosis, neurodegeneration, and cerebral angiomatosis (MONDO:0032651) | | obsolete autosomal recessive cerebellar ataxia-blindness-deafness syndrome (MONDO:0010061) | peroxisome biogenesis disorder 4B (MONDO:0013931) |

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

| Term | Replacement | ----|----|

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<details> <summary>New obsoletion candidates: 5</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0006518 | sporadic Creutzfeld Jacob disease | | MONDO:0800029 | interstitial lung disease 2 | | MONDO:0100028 | immune epilepsy | | MONDO:0019123 | continuous spikes and waves during sleep | | MONDO:0850416 | autoimmune epilepsy |

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

| Mondo ID | Label | |:---|:---| | MONDO:0014453 | immunodeficiency 36 with lymphoproliferation | | MONDO:0018206 | childhood-onset autosomal recessive myopathy with external ophthalmoplegia |

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