monarch-initiative/mondo: v2025-05-06

<details> <summary>New terms: 18</summary>

| Term | ----| | Fischer-Zirnsak progeroid syndrome (MONDO:0700301) | | Erb palsy (MONDO:0700303) | | aflatoxicosis (MONDO:0700296) | | ACTH-independent macronodular adrenal hyperplasia-3 (MONDO:0700299) | | glycogen storage disease IX (MONDO:0700291) | | desmoplastic fibroma (MONDO:0700292) | | leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical (MONDO:0700286) | | isolated methylmalonic aciduria cblD type (MONDO:0700298) | | achalasia-progeroid syndrome (MONDO:0700300) | | WFS1-related disorder (MONDO:0700293) | | carnitine palmitoyl transferase deficiency (MONDO:0700284) | | homocystinuria-megaloblastic anemia cblD type (MONDO:0700297) | | leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical (MONDO:0700295) | | CTCF-related neurodevelopmental disorder (MONDO:0700294) | | DMD-related muscular dystrophy (MONDO:0700285) | | spermatogenic failure 98 (MONDO:0700290) | | early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (MONDO:0700288) | | variable age epilepsy syndrome (MONDO:0100619) |

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<details> <summary>Terms renamed: 5</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0017287 | IgG4-related disease | immunoglobulin G4-related sclerosing disease | | MONDO:0007727 | autosomal dominant familial periodic fever | TNF receptor 1-associated periodic fever syndrome | | MONDO:0008814 | hyperargininemia | arginase deficiency | | MONDO:0100580 | epilepsy, onset unknown | epilepsy, unknown whether focal or generalized | | MONDO:0011382 | sickle cell anemia | sickle cell disease |

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<details> <summary>Text definitions added: 5</summary>

| Term | New Text Definition | ----|----| | systemic lupus erythematosus 17 (MONDO:0859083) | Any systemic lupus erythematosus in which the cause of the disease is a variation in the TLR7 gene. | | variable age epilepsy syndrome (MONDO:0100619) | An epilepsy syndrome that has an onset during variable ages and stages of life. | | aflatoxicosis (MONDO:0700296) | A disease caused by consuming food or feed contaminated with aflatoxins. | | Erb palsy (MONDO:0700303) | A palsy characterized by a paralysis of the arm caused by an injury to the upper group of the main nerves supplying it, specifically the upper trunk C5-C6 of the brachial plexus. Erb palsy most commonly, though not exclusively, arises as a result of an injury sustained during birth. | | glycogen storage disease IX (MONDO:0700291) | A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. |

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<details> <summary>Text definitions changed: 9</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | Crohn jejunitis (MONDO:0021207) | An Crohn disease involving a pathogenic inflammatory response in the jejunum. | A Crohn disease involving a pathogenic inflammatory response in the jejunum. | | lentigo maligna melanoma (MONDO:0023619) | Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. | A skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. | | amelanotic skin melanoma (MONDO:0005208) | A amelanotic melanoma that involves the zone of skin. | An amelanotic melanoma that involves the zone of skin. | | Crohn disease of the esophagus (MONDO:0022901) | An Crohn disease involving a pathogenic inflammatory response in the esophagus. | A Crohn disease involving a pathogenic inflammatory response in the esophagus. | | autosomal dominant Charcot-Marie-Tooth disease type 2M (MONDO:0016431) | Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. | A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. | | toxic labyrinthitis (MONDO:0001874) | A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. | A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicylic acid, amiodarone, quinine, cisplatin, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. | | perianal Crohn disease (MONDO:0005537) | An Crohn disease involving a pathogenic inflammatory response in the anal canal. | A Crohn disease involving a pathogenic inflammatory response in the anal region. | | Crohn ileitis (MONDO:0000709) | An Crohn disease involving a pathogenic inflammatory response in the ileum. | A Crohn disease involving a pathogenic inflammatory response in the ileum. | | small bowel Crohn disease (MONDO:0005539) | An Crohn disease involving a pathogenic inflammatory response in the small intestine. | A Crohn disease involving a pathogenic inflammatory response in the small intestine. |

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<details> <summary>Terms obsoleted with replacement: 0</summary>

| Term | ----|

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

| Term | ----|

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<details> <summary>New obsoletion candidates: 3</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0010061 | autosomal recessive cerebellar ataxia-blindness-deafness syndrome | | MONDO:0014453 | immunodeficiency 36 | | MONDO:0024360 | central sleep apnea caused by high altitude |

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

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

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