v2024-05-08

Overview:

• Number of new terms: 75
• Number of changed labels: 19
• Number of changed definitions: 23
• Number obsoleted terms: 23
• Number of new obsoletion candidates: 18
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100556	PRRT2-associated paroxysmal movement disorder	A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.
MONDO:0100557	RBFOX2-related congenital heart disorder	Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.
MONDO:0100558	RNU4ATAC spectrum disorder	A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.
MONDO:0100559	ALG14-congenital disorder of glycosylation	Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.
MONDO:0100560	ligneous conjunctivitis	A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.
MONDO:0100561	HBA1-related alpha thalassemia spectrum	Mild microcytic anemia caused by biallelic variation in the HBA1 gene.
MONDO:0100562	HBA2-related alpha thalassemia spectrum	Mild microcytic anemia caused by biallelic variation in the HBA2 gene.
MONDO:0100563	digenic alpha thalassemia spectrum	An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.
MONDO:0100564	HBA1; HBA2-related digenic alpha thalassemia spectrum	Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).
MONDO:0100565	monogenic alpha thalassemia spectrum	An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.
MONDO:0100566	myoclonic epilepsy in infancy
MONDO:0100567	hereditary angioedema with normal C1Inh	A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
MONDO:0100568	obsolete Mycobacterium tuberculosis, protection against
MONDO:0100569	ACD-related short telomere syndrome	A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.
MONDO:0100570	ACD-related long telomere syndrome	A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.
MONDO:0100571	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.
MONDO:0700267	BARD1-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.
MONDO:0700268	BRCA1-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BRAC1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.
MONDO:0700269	BRCA2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.
MONDO:0700270	ATM-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.
MONDO:0700271	CHEK2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.
MONDO:0700272	PALB2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.
MONDO:0700273	RAD51C-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
MONDO:0700274	RAD51D-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
MONDO:0800459	noxacusis	Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).
MONDO:0800469	ACD-related telomere biology disorder	A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.
MONDO:0800485	AKT3-related overgrowth spectrum	Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.
MONDO:0958295	BCOR ITD sarcoma	A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
MONDO:0958296	BCOR-CCNB3 sarcoma	A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
MONDO:0958297	childhood sarcoma with BCOR genetic alterations	A sarcoma with BCOR genetic alterations that occurs during childhood.
MONDO:0958298	childhood round cell sarcoma with EWSR1-non-ETS fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
MONDO:0958299	round cell sarcoma with EWSR1-NFATC2 gene fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
MONDO:0958300	round cell sarcoma with EWSR1-PATZ1 gene fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
MONDO:0958301	round cell sarcoma with FUS-NFATC2 g...

v2024-04-02

Overview:

• Number of new terms: 125
• Number of changed labels: 12
• Number of changed definitions: 17
• Number obsoleted terms: 23
• Number of new obsoletion candidates: 16
• Number of terms who were previously candidate for obsoletion and are now not anymore: 3

New terms

Mondo ID	Label	Definition
MONDO:0100551	SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss	A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.
MONDO:0100552	ATTRV30M amyloidosis	A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
MONDO:0100553	OPTN-related open angle glaucoma	Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.
MONDO:0100554	hereditary narcolepsy	An instance of narcolepsy that is caused by an inherited genomic modification in an individual.
MONDO:0100555	IgA nephropathy, susceptibility to	An inherited susceptibility or predisposition to developing IgA glomerulonephritis.
MONDO:0700245	epidermolytic hyperkeratosis 2B, autosomal recessive
MONDO:0700248	epidermolytic hyperkeratosis 2A, autosomal dominant
MONDO:0700249	epidermolytic hyperkeratosis 1
MONDO:0700250	mitochondrial complex IV deficiency, nuclear type 1
MONDO:0700251	orofacial cleft 7
MONDO:0700252	parneoplastic endocrine syndrome	Paraneoplastic syndrome that involves the endocrine system.
MONDO:0700253	paraneoplastic hematological syndrome	Paraneoplastic syndrome that involves the hematopoietic system.
MONDO:0700254	paraneoplastic gastrointestinal syndrome	Paraneoplastic syndrome that involves the digestive system.
MONDO:0700255	paraneoplastic renal syndrome	Paraneoplastic syndrome that involves the renal system.
MONDO:0700256	TREX1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
MONDO:0700257	RNASEH2B-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700258	RNASEH2C-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700259	RNASEH2A-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700260	SAMHD1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
MONDO:0700261	ADAR-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
MONDO:0700262	IFIH1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.
MONDO:0700263	RNU7-1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700264	type 1 interferonopathy	Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.
MONDO:0700265	paraneoplastic rheumatic syndrome	Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.
MONDO:0700266	paraneoplastic cutaneous syndrome	Paraneoplastic syndrome that involves the integumental system.
MONDO:0956962	benign teratoma	A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.
MONDO:0956964	medulloblastoma SHH activated and TP53 mutant	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
MONDO:0956965	medulloblastoma SHH activated and TP53 wild-type	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
MONDO:0956966	medulloblastoma non-WNT/non-SHH group 3	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
MONDO:0956967	medulloblastoma non-WNT/non-SHH group 4	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.
MONDO:0956969	chronic inducible urticaria	A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
MONDO:0956971	intermittent asthma	A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
MONDO:0956975	T2-high asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
MONDO:0956976	T2-low asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
MONDO:0956977	near-fatal asthma	An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
MONDO:0956979	nocturnal asthma	A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
MONDO:0956980	vascular parkinsonism	A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
MONDO:0956981	astrocytoma, IDH-mutant, grade 4	An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
MONDO:0956983	pleomorphic xanthoastrocytoma BRAF mutant	An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.
MONDO:0956984	YAP1-MAMLD1 fusion-positive supratentorial ependymoma	A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.
MONDO:0956985	lipofibromatosis-like neural tumor	A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.
MONDO:0956986	solitary fibrous tumor/hemangiopericytoma	A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
MONDO:0956987	EZB-MYC+ diffuse large B-cell lymphoma	An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. I...

v2024-03-04

Overview:

• Number of new terms: 34
• Number of changed labels: 5
• Number of changed definitions: 10
• Number obsoleted terms: 6
• Number of new obsoletion candidates: 17
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100539	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.
MONDO:0100540	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.
MONDO:0100541	GATA5-related congenital heart defects	A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.
MONDO:0100542	clonal hematopoiesis	A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.
MONDO:0100543	clonal hematopoiesis of indeterminate potential	A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.
MONDO:0100544	age-related clonal hematopoiesis	A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.
MONDO:0100545	hereditary neurological disease	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
MONDO:0100546	hereditary neuromuscular disease	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
MONDO:0100547	cardiogenetic disease	A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
MONDO:0100548	SERAC1-related neurological disorder	Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.
MONDO:0100549	focal nodular hyperplasia	A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.
MONDO:0100550	orbital myositis	A rare form of myositis that affects only the orbital muscles.
MONDO:0800453	juvenile absence epilepsy	A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
MONDO:0958083	conjoined twins
MONDO:0958091	cleft palate-congenital heart defect-intellectual disability syndrome
MONDO:0958094	adult-onset progressive leukoencephalopathy-early-onset deafness	A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.
MONDO:0958106	congenital insensitivity to pain syndrome, Marsili type
MONDO:0958110	atrophic papulosis
MONDO:0958115	autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
MONDO:0958116	autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
MONDO:0958117	autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
MONDO:0958118	autosomal recessive combined immunodeficiency due to IL6R deficiency
MONDO:0958119	embryonal tumor with multilayered rosettes	A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.
MONDO:0958120	autosomal dominant combined immunodeficiency due to ERBIN deficiency
MONDO:0958127	transplant-related bronchiolitis obliterans
MONDO:0958199	myoclonic epilepsy of Lafora 1
MONDO:0958200	intellectual developmental disorder, x-linked 113
MONDO:0958201	myoclonic epilepsy of Lafora 2
MONDO:0958202	moyamoya disease 7
MONDO:0958203	intellectual developmental disorder, autosomal dominant 74
MONDO:0958204	intellectual developmental disorder, autosomal recessive 81
MONDO:0958205	Yuksel-Vogel-Bauer syndrome
MONDO:0958206	spermatogenic failure 89
MONDO:1030001	epilepsy, juvenile absence, susceptibility to

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0004769	orbital pseudotumor	orbital plasma cell granuloma	orbital pseudotumor
MONDO:0009929	surfactant metabolism dysfunction, pulmonary, 1	neonatal acute respiratory distress due to SP-B deficiency	surfactant metabolism dysfunction, pulmonary, 1
MONDO:0012280	Goldberg-Shprintzen syndrome	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen syndrome
MONDO:0016499	autoimmune autonomic ganglionopathy	acute pandysautonomia	autoimmune autonomic ganglionopathy
MONDO:0957820	congenital disorder of glycosylation, type IIbb	congenital disorder of glycosylation, type IIb	congenital disorder of glycosylation, type IIbb

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0005775	G6PD deficiency	An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.	An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
MONDO:0005594	severe cutaneous adverse reaction	A permanent mark left on the skin in the process of wound healing.	A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).
MONDO:0006553	Fox-Fordyce disease	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped i...

v2024-02-06

Overview:

• Number of new terms: 126
• Number of changed labels: 8
• Number of changed definitions: 9
• Number obsoleted terms: 19
• Number of new obsoletion candidates: 40
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100533	hemorrhage, intracerebral, susceptibility to	An inherited susceptibility or predisposition to developing intracerebral hemorrhage.
MONDO:0100534	SMARCB1-deficient kidney medullary carcinoma	A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.
MONDO:0100535	hypodontia/oligodontia with orofacial cleft
MONDO:0100536	tooth agenesis, selective, with orofacial cleft
MONDO:0100537	plasminogen deficiency, type II
MONDO:0100538	dysplasminogenemia
MONDO:0700246	ocular dysgenesis caused by defects in PAX6 regulation	Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.
MONDO:0700247	RAB18 deficiency	Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
MONDO:0800451	congenital amegakaryocytic thrombocytopenia
MONDO:0800452	congenital amegakaryocytic thrombocytopenia 1	A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
MONDO:0957316	epidermolytic hyperkeratosis
MONDO:0957317	hematuria, benign familial
MONDO:0957318	nephrolithiasis, calcium oxalate
MONDO:0957319	pseudohypoaldosteronism, type I
MONDO:0957400	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
MONDO:0957553	Houge-Janssens syndrome
MONDO:0957560	hearing loss, noise-induced, susceptibility to
MONDO:0957561	encephalitis, acute, infection-induced, susceptibility to, 12
MONDO:0957563	cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
MONDO:0957564	congenital smooth muscle hamartoma, with or without hemihypertrophy
MONDO:0957572	thrombocytopenia 9
MONDO:0957575	amegakaryocytic thrombocytopenia, congenital, 2
MONDO:0957576	parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
MONDO:0957577	variegate porphyria, childhood-onset
MONDO:0957578	thrombocytopenia 10
MONDO:0957580	bleeding disorder, platelet-type, 25
MONDO:0957583	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
MONDO:0957584	spermatogenic failure 85
MONDO:0957588	neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
MONDO:0957593	spermatogenic failure 86
MONDO:0957594	spermatogenic failure 87
MONDO:0957595	Ziegler-Huang syndrome
MONDO:0957599	epilepsy, early-onset
MONDO:0957779	neurodevelopmental disorder with language delay and variable cognitive abnormalities
MONDO:0957780	developmental and epileptic encephalopathy 111
MONDO:0957783	ichthyosis with erythrokeratoderma
MONDO:0957786	xerosis and growth failure with immune and pulmonary dysfunction syndrome
MONDO:0957787	Fliedner-Zweier syndrome
MONDO:0957788	spastic paraplegia 18a, autosomal dominant
MONDO:0957790	immune dysregulation, autoimmunity, and autoinflammation
MONDO:0957791	neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
MONDO:0957795	arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
MONDO:0957807	hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
MONDO:0957809	neutropenia, severe congenital, 10, autosomal recessive
MONDO:0957810	developmental delay, dysmorphic facies, and brain anomalies
MONDO:0957811	Alport syndrome 3b, autosomal recessive
MONDO:0957812	developmental and epileptic encephalopathy 112
MONDO:0957813	spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
MONDO:0957815	developmental delay with or without epilepsy
MONDO:0957819	arthrogryposis, distal, type 12
MONDO:0957820	congenital disorder of glycosylation, type IIb
MONDO:0957821	spermatogenic failure 88
MONDO:0957822	premature ovarian failure 22
MONDO:0957824	optic atrophy 14
MONDO:0957825	deafness, autosomal recessive 121
MONDO:0957832	craniometadiaphyseal osteosclerosis with hip dysplasia
MONDO:0957870	leukoencephalopathy with vanishing white matter 2
MONDO:0957871	leukoencephalopathy with vanishing white matter 3
MONDO:0957872	leukoencephalopathy with vanishing white matter 4
MONDO:0957873	leukoencephalopathy with vanishing white matter 5
MONDO:0957874	neuronopathy, distal hereditary motor, autosomal recessive 9
MONDO:0957875	neuronopathy, distal hereditary motor, autosomal dominant 11
MONDO:0957876	neuronopathy, distal hereditary motor, autosomal recessive 10
MONDO:0957919	Lui-Jee-Baron syndrome
MONDO:0957920	immunodeficiency 113 with autoimmunity and autoinflammation
MONDO:0957921	Cornelia de Lange syndrome 6
MONDO:0957922	ciliary dyskinesia, primary, 52
MONDO:0957928	otosclerosis 11
MONDO:0957935	optic atrophy 15
MONDO:0957953	Garg-Mishra progeroid syndrome
MONDO:0957954	lymphatic malformation 14
MONDO:0957955	immunodeficiency 114, folate-responsive
MONDO:0957958	spastic paraplegia 72b, autosomal recessive
MONDO:0957960	Long-Olsen-Distelmaier syndrome
MONDO:0957961	oocyte/zygote/embryo maturation arrest 21
MONDO:0957978	optic atrophy 16
MONDO:0957981	immunodeficiency 115 with autoinflammation
MONDO:0957984	cardiomyopathy, dilated, 2j
MONDO:0957985	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
MONDO:0957988	osteogenesis imperfecta, type 23
MONDO:0957990	Tan-Almurshedi syndrome
MONDO:0957991	ciliary dyskinesia, primary, 53
MONDO:0957992	combined oxidative phosphorylation deficiency 59
MONDO:0957993	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MONDO:0957997	diabetes, deafness, developmental delay, and short stature syndrome
MONDO:0957999	intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
MONDO:0958000	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
MONDO:0958001	Alfadhel syndrome
MONDO:0958005	Hoxha-Aliu syndrome
MONDO:0958006	spondyloepimetaphyseal dysplasia, Guo-Campeau type
MONDO:0958009	spastic ataxia 10, autosomal recessive
MONDO:0958011	immunodeficiency 117
MONDO:0958012	neurodegeneration with brain iron accumulation 9
MONDO:0958013	immunodeficiency, common variable, 15
MONDO:0958017	neutropenia, severe congenital, 11, autosomal dominant
MONDO:0958018	leukodystrophy, hypomyelinating, 27
MONDO:0958022	lipodystrophy, familial partial, type 8
MONDO:0958023	lipodystrophy, congenital generalized, type 5
MONDO:0958030	immunodeficiency 118
MONDO:0958034	lipodystrophy, familial partial, type 9
MONDO:0958035	premature ovarian failure 23
MONDO:0958037	developmental dysplasia of the hip 3
MONDO:0958174	basal cell nevus syndrome 1
MONDO:0958175	craniofacial microsomia 1
MONDO:0958176	oculopharyngeal muscular dystrophy 1
MONDO:0958177	chronic recurrent multifocal osteomyelitis 3
MONDO:0958178	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
MONDO:0958179	glycine encephalopathy 1
MONDO:0958180	prolonged electroretinal response suppression 1
MONDO:0958181	...

v2024-01-03

Overview:

• Number of new terms: 757
• Number of changed labels: 4
• Number of changed definitions: 2
• Number obsoleted terms: 2
• Number of new obsoletion candidates: 0
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0700224	PDE6A-related retinopathy	Any retinopathy caused by variants in the PDE6A gene.
MONDO:0700227	ELOVL4-related maculopathy	Any maculopathy caused by a variant in the ELOVL4 gene.
MONDO:0700228	LRP5-related exudative vitreoretinopathy	Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.
MONDO:0700229	MAK-related retinopathy	Any retinopathy caused by variants in the MAK gene.
MONDO:0700230	GPR143-related foveal hypoplasia	Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.
MONDO:0700231	TSPAN12-related exudative vitreoretinopathy	Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.
MONDO:0700232	KIZ-related retinopathy	Any retinopathy caused by variants in the KIZ gene.
MONDO:0700233	TOPORS-related retinopathy	Any retinopathy caused by a variant in the TOPORS gene.
MONDO:0700234	PRPF8-related retinopathy	Any retinopathy caused by a variant in the PRPF8 gene.
MONDO:0700235	RD3-related retinopathy	Any retinopathy caused by variants in the RD3 gene.
MONDO:0700236	BBS9-related ciliopathy	Any ciliopathy caused by variants in the BBS9 gene.
MONDO:0700237	BBS10-related ciliopathy	Any ciliopathy caused by variants in the BBS10 gene.
MONDO:0700238	BEST1-related dominant retinopathy	Any retinopathy caused by a heterozygous variant in the BEST1 gene.
MONDO:0700239	BEST1-related recessive retinopathy	Any retinopathy caused by bi-allelic variants in the BEST1 gene.
MONDO:0700240	BEST1-related vitreoretinochoroidopathy	Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.
MONDO:0700241	IMPG2-related recessive retinopathy	Any retinopathy caused by bi-allelic variants in the IMPG2 gene.
MONDO:0700242	IMPG2-related dominant retinopathy	Any retinopathy caused by a heterozygous variant in the IMPG2 gene.
MONDO:0700243	CACNA1F-related retinopathy	Any retinopathy caused by a variant in the CACNA1F gene.
MONDO:0700244	CACNA2D4-related retinopathy	Any retinopathy caused by variants in the CACNA2D4 gene.
MONDO:0800456	SYNCRIP-related neurodevelopmental disorder	Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.
MONDO:0800457	HNRNPC-related neurodevelopmental disorder	Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.
MONDO:0800458	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.
MONDO:0800460	ASAH1-related disorders	The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.
MONDO:0800461	COL4A1-related disorders	The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).
MONDO:0800462	FHL1-related myopathy	A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.
MONDO:0800463	KIF7-related ciliopathy	A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.
MONDO:0800464	SQSTM1-related multisystem proteinopathy	A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.
MONDO:0800465	CTSC-related disorder	Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.
MONDO:0800466	disorder of GNAS inactivation	Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).
MONDO:0800467	dyskeratosis congenita and related telomere biology disorder	A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
MONDO:0800468	SCN4A-related channelopathy	Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.
MONDO:0800470	TUBB4A-related neurologic disorder	Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.
MONDO:0800472	CYP1B1-related glaucoma with or without anterior segment dysgenesis	Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.
MONDO:0800474	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.
MONDO:0800475	NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability	A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.
MONDO:0800476	HAND2 related congenital heart defect	A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.
MONDO:0800477	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	A neurodevelopmental disorder caused by heterozygous variants i...

v2023-12-12

Overview:

• Number of new terms: 11
• Number of changed labels: 31
• Number of changed definitions: 26
• Number obsoleted terms: 484
• Number of new obsoletion candidates: 20
• Number of terms who were previously candidate for obsoletion and are now not anymore: 6

New terms

Mondo ID	Label	Definition
MONDO:0100529	Sunflower syndrome	A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.
MONDO:0100530	myopathy caused by variation in CRPPA	Any myopathy in which the cause of the disease is a variation in the CRPPA gene.
MONDO:0100531	Emery-Dreifuss muscular dystrophy 1, X-linked
MONDO:0100532	blepharospasm, benign essential, susceptibility to
MONDO:0800444	Birt-Hogg-Dube syndrome
MONDO:0800445	Birt-Hogg-Dube syndrome 1	Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.
MONDO:0800446	bleeding diathesis due to thromboxane synthesis deficiency	A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).
MONDO:0800447	bleeding disorder, platelet-type, 13, susceptibility to
MONDO:0800449	lysosomal acid lipase deficiency
MONDO:0800450	microcephaly, short stature, and impaired glucose metabolism
MONDO:0800455	Birt-Hogg-Dube syndrome 2	Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0015397	craniofacial microsomia 1	oculo-auriculo-vertebral spectrum	craniofacial microsomia 1
MONDO:0004759	zoophilia	bestiality	zoophilia
MONDO:0007027	metabolic dysfunction-associated steatohepatitis	non-alcoholic steatohepatitis	metabolic dysfunction-associated steatohepatitis
MONDO:0013209	metabolic dysfunction-associated steatotic liver disease	non-alcoholic fatty liver disease	metabolic dysfunction-associated steatotic liver disease
MONDO:0007078	pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A	pseudohypoparathyroidism type 1A
MONDO:0008451	neuronopathy, distal hereditary motor, autosomal dominant 1	neuronopathy, distal hereditary motor, type 1	neuronopathy, distal hereditary motor, autosomal dominant 1
MONDO:0015362	neuronopathy, distal hereditary motor, autosomal dominant	autosomal dominant distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal dominant
MONDO:0010683	X-linked myotubular myopathy	X-linked centronuclear myopathy	X-linked myotubular myopathy
MONDO:0010773	mitochondrial myopathy with diabetes	myopathy and diabetes mellitus	mitochondrial myopathy with diabetes
MONDO:0010839	neuronopathy, distal hereditary motor, autosomal dominant 8	autosomal dominant congenital benign spinal muscular atrophy	neuronopathy, distal hereditary motor, autosomal dominant 8
MONDO:0015363	neuronopathy, distal hereditary motor, autosomal recessive	autosomal recessive distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal recessive
MONDO:0011728	benign essential blepharospasm	blepharospasm	benign essential blepharospasm
MONDO:0011771	neuronopathy, distal hereditary motor, autosomal recessive 3	distal spinal muscular atrophy type 3	neuronopathy, distal hereditary motor, autosomal recessive 3
MONDO:0012190	epidermolysis bullosa simplex 7, with nephropathy and deafness	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome	epidermolysis bullosa simplex 7, with nephropathy and deafness
MONDO:0012240	congenital myopathy 23	nemaline myopathy 4	congenital myopathy 23
MONDO:0012608	neuronopathy, distal hereditary motor, autosomal recessive 4	autosomal recessive lower motor neuron disease with childhood onset	neuronopathy, distal hereditary motor, autosomal recessive 4
MONDO:0013772	Huppke-Brendel syndrome	congenital cataract-hearing loss-severe developmental delay syndrome	Huppke-Brendel syndrome
MONDO:0013835	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
MONDO:0013947	neuronopathy, distal hereditary motor, autosomal recessive 5	young adult-onset distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal recessive 5
MONDO:0013999	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	optic nerve edema-splenomegaly syndrome	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
MONDO:0014700	Au-Kline syndrome	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation	Au-Kline syndrome
MONDO:0014899	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
MONDO:0015007	spastic paraplegia, intellectual disability, nystagmus, and obesity	spastic paraplegia, intellectual disability, nystagmus, and obesity;	spastic paraplegia, intellectual disability, nystagmus, and obesity
MONDO:0017939	classic multiminicore myopathy	minicore myopathy	classic multiminicore myopathy
MONDO:0020563	dedifferentiated liposarcoma	Dedifferentiated liposarcoma	dedifferentiated liposarcoma
MONDO:0030055	neuronopathy, distal hereditary motor, autosomal recessive 8	sorbitol dehydrogenase deficiency with peripheral neuropathy	neuronopathy, distal hereditary motor, autosomal recessive 8
MONDO:0030977	neuronopathy, distal hereditary motor, autosomal recessive 7	neuropathy, hereditary motor, with myopathic features	neuronopathy, distal hereditary motor, autosomal recessive 7
MONDO:0100230	fatty acyl-CoA reductase 1 upregulation	fatty acyl-CoA reductase 1 dysregulation	fatty acyl-CoA reductase 1 upregulation
MONDO:0800313	xeroderma pigmentosum, type F/Cockayne syndrome	xeroderma pigmentosum, type F/cockayne syndrome	xeroderma pigmentosum, type F/Cockayne syndrome
MONDO:0800314	xeroderma pigmentosum, type G/Cockayne syndrome	xeroderma pigmentosum, type G/cockayne syndrome	xeroderma pigmentosum, type G/Cockayne syndrome
MONDO:0859300	neuronopathy, distal hereditary motor, autosomal dominant 10	Neuronopathy, distal hereditary motor, type X	neuronopathy, distal hereditary motor, autosomal dominant 10

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0018882	vasculitis	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease.	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.
MONDO:0007027	metabolic dysfunction-associated steatohepatitis	Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).
MONDO:0013209	metabolic dysfunction-associated ste...

v2023-09-12

Overview:

• Number of new terms: 379
• Number of changed labels: 28
• Number of changed definitions: 508
• Number obsoleted terms: 6
• Number of new obsoletion candidates: 236
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100524	ASAH1-related sphingolipidosis	A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.
MONDO:0100525	TCF7L2-related neurodevelopmental disorder	A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.
MONDO:0100526	breast-ovarian cancer, familial, susceptibility to
MONDO:0100527	dysplastic cortical hyperostosis, Kozlowski-Tsuruta type	An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
MONDO:0100528	Hao-Fountain syndrome due to 16p13.2 microdeletion	A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
MONDO:0800448	leukoencephalopathy with vanishing white matter	A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \foamy'' aspect."
MONDO:0957202	spermatogenic failure, X-linked, 7
MONDO:0957203	intellectual developmental disorder, X-linked 111
MONDO:0957204	autoinflammation with pulmonary and cutaneous vasculitis
MONDO:0957208	pituitary hormone deficiency, combined or isolated, 8
MONDO:0957210	neurooculorenal syndrome
MONDO:0957211	neurodegeneration and seizures due to copper transport defect
MONDO:0957215	congenital myopathy 20
MONDO:0957216	premature ovarian failure 21
MONDO:0957217	cortical dysplasia, complex, with other brain malformations 12
MONDO:0957218	neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
MONDO:0957220	oocyte/zygote/embryo maturation arrest 17
MONDO:0957221	spastic paraplegia 70, autosomal recessive
MONDO:0957224	congenital myopathy 21 with early respiratory failure
MONDO:0957225	neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
MONDO:0957228	intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
MONDO:0957229	hatipoglu immunodeficiency syndrome
MONDO:0957230	oocyte/zygote/embryo maturation arrest 18
MONDO:0957231	oocyte/zygote/embryo maturation arrest 19
MONDO:0957240	cone-rod dystrophy 24
MONDO:0957247	congenital myopathy 22A, classic
MONDO:0957248	developmental and epileptic encephalopathy 31B
MONDO:0957249	spermatogenic failure 82
MONDO:0957250	spermatogenic failure 83
MONDO:0957252	ciliary dyskinesia, primary, 50
MONDO:0957253	diarrhea 13
MONDO:0957254	mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
MONDO:0957255	mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
MONDO:0957260	combined low LDL and fibrinogen
MONDO:0957261	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
MONDO:0957262	osteopetrosis, autosomal recessive 9
MONDO:0957263	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
MONDO:0957264	cerebroretinal microangiopathy with calcifications and cysts 3
MONDO:0957265	congenital myopathy 22B, severe fetal
MONDO:0957266	RECON progeroid syndrome
MONDO:0957267	neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MONDO:0957268	hypersulfaturia
MONDO:0957270	muscular dystrophy, limb-girdle, autosomal recessive 28
MONDO:0957271	autoinflammatory disease, systemic, with vasculitis
MONDO:0957273	Charcot-Marie-Tooth disease, dominant intermediate A
MONDO:0957274	spastic paraplegia 89, autosomal recessive
MONDO:0957278	oocyte/zygote/embryo maturation arrest 20
MONDO:0957279	auditory neuropathy, autosomal dominant 2
MONDO:0957281	nemaline myopathy 5B, autosomal recessive, childhood-onset
MONDO:0957284	nemaline myopathy 5C, autosomal dominant
MONDO:0957288	intellectual developmental disorder, autosomal recessive 79
MONDO:0957294	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
MONDO:0957301	spermatogenic failure 84
MONDO:0957303	palmoplantar keratoderma, epidermolytic, 2
MONDO:0957307	woolly hair-skin fragility syndrome
MONDO:0957308	spastic paraplegia 90A, autosomal dominant
MONDO:0957309	spastic paraplegia 90B, autosomal recessive
MONDO:0957314	retinitis pigmentosa 97
MONDO:0957337	isolated chorioretinal dystrophy
MONDO:0957341	secondary early-onset glaucoma
MONDO:0957382	multiple mitochondrial dysfunctions syndrome 7
MONDO:0957385	dystonia 37, early-onset, with striatal lesions
MONDO:0957386	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
MONDO:0957388	autoimmune disease, multisystem, infantile-onset, 3
MONDO:0957396	ciliary dyskinesia, primary, 51
MONDO:0957397	intellectual developmental disorder, autosomal dominant 72
MONDO:0957403	periodic fever syndrome of childhood
MONDO:0957404	pyogenic autoinflammatory syndrome of childhood
MONDO:0957405	granulomatous autoinflammatory syndrome of childhood
MONDO:0957408	type 1 interferonopathy of childhood
MONDO:0957421	borna virus encephalitis
MONDO:0957423	immunotherapy induced hypophysitis
MONDO:0957426	autosomal recessive hyper-IgE syndrome
MONDO:0957427	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
MONDO:0957428	B-lymphoblastic leukemia/lymphoma with t(17;19)
MONDO:0957430	childhood-onset schizophrenia
MONDO:0957431	endogenous Cushing syndrome
MONDO:0957432	neonatal compartment syndrome
MONDO:0957433	primary pulmonary vein stenosis
MONDO:0957442	autosomal recessive ataxia due to PEX16 deficiency
MONDO:0957443	autosomal recessive ataxia due to PEX2 deficiency
MONDO:0957451	non-terminal myelocystocele	A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.
MONDO:0957452	segmental arterial mediolysis
MONDO:0957453	true myelomeningocele	A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).
MONDO:0957454	hemi-myelomeningocele	A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.
MONDO:0957456	classical dermatomyositis
MONDO:0957458	adermatopathic dermatomyositis
MONDO:0957459	congenital esophageal stenosis
MONDO:0957460	spontaneous intestinal perforation
MONDO:0957461	primary tuberculous lymphadenitis
MONDO:0957462	primary pulmonary tuberculosis
MONDO:0957463	primary bone and joint tuberculosis
MONDO:0957464	primary cutaneous tuberculosis
MONDO:0957465	multifocal tuberculosis
MONDO:0957466	primary tuberculosis of the digestive system
MONDO:0957467	primary genito-urinary tuberculosis
MONDO:0957473	craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
MONDO:0957476	isolated persistent urogenital sinus
MONDO:0957477	MYT1L-related developmental delay-intellectual disability-obesity syndrome
MONDO:0957481	idiopathic pregnancy-associated osteoporosis
MONDO:0957487	idiopathic cat...

v2023-08-02

Overview:

• Number of new terms: 1
• Number of changed labels: 3
• Number of changed definitions: 18
• Number obsoleted terms: 10
• Number of new obsoletion candidates: 230
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:1010000	pythiosis	A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007062	adactylia, unilateral	congenital absence/hypoplasia of fingers excluding thumb, unilateral	adactylia, unilateral
MONDO:0008409	congenital myopathy 7A, myosin storage, autosomal dominant	MYH7-related late-onset scapuloperoneal muscular dystrophy	congenital myopathy 7A, myosin storage, autosomal dominant
MONDO:0044635	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0002113	peritoneal carcinoma	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	A peritoneum cancer that is located in the inside of the abdomen.
MONDO:0015686	primary peritoneal carcinoma	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.
MONDO:0007062	adactylia, unilateral	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
MONDO:0008346	pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
MONDO:0008458	spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
MONDO:0008675	Freeman-Sheldon syndrome	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
MONDO:0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
MONDO:0009835	subacute sclerosing panencephalitis	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.
MONDO:0011191	capillary infantile hemangioma	Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover. Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported.	Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.
MONDO:0013646	chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
MONDO:0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormaliti...

v2023-07-03

Overview:

• Number of new terms: 82
• Number of changed labels: 50
• Number of changed definitions: 24
• Number obsoleted terms: 24
• Number of new obsoletion candidates: 20
• Number of terms who were previously candidate for obsoletion and are now not anymore: 10

New terms

Mondo ID	Label	Definition
MONDO:0100513	TRAF3 haploinsufficiency	Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.
MONDO:0100519	epilepsy, idiopathic generalized, susceptibility to, 17
MONDO:0100520	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.
MONDO:0100521	NOG-related symphalangism spectrum disorder	An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.
MONDO:0100522	hypotrichosis 4
MONDO:0100523	SPAST-related motor disorder	Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,
MONDO:0957001	hereditary mixed dermis disorder
MONDO:0957003	hereditary neuro-ophthalmological disease
MONDO:0957008	hereditary cerebral malformation
MONDO:0957009	hereditary posterior fossa malformation
MONDO:0957018	autoinflammatory syndrome of childhood
MONDO:0957024	hereditary 46,XX disorder of sex development
MONDO:0957025	hereditary 46,XY disorder of sex development
MONDO:0957048	isolated macular dystrophy
MONDO:0957097	hereditary hemolytic uremic syndrome
MONDO:0957111	neurological muscular channelopathy due to a genetic sodium channel defect
MONDO:0957112	neurological muscular channelopathy due to a genetic chloride channel defect
MONDO:0957113	neurological muscular channelopathy due to a genetic calcium channel defect
MONDO:0957114	neurological muscular channelopathy due to a genetic potassium channel defect
MONDO:0957115	neurological muscular channelopathy due to a genetic ryanodine receptor defect
MONDO:1011300	acute disease, non-human animal	Acute disease that occurs in non-human animals.
MONDO:1011301	auditory system disorder, non-human animal	Auditory system disorder that occurs in non-human animals.
MONDO:1011302	branchial arch disease, non-human animal	Branchial arch disease that occurs in non-human animals.
MONDO:1011303	mammary gland disorder, non-human animal	Mammary gland disorder that occurs in non-human animals.
MONDO:1011304	mammary fibrocystic disease, non-human animal	Mammary fibrocystic disease that occurs in non-human animals.
MONDO:1011305	cancer or benign tumor, non-human animal	Cancer or benign tumor that occurs in non-human animals.
MONDO:1011306	cardiovascular disorder, non-human animal	Cardiovascular disorder that occurs in non-human animals.
MONDO:1011307	chromosomal disorder, non-human animal	Chromosomal disorder that occurs in non-human animals.
MONDO:1011308	congenital nervous system disorder, non-human animal	Congenital nervous system disorder that occurs in non-human animals.
MONDO:1011309	connective tissue disorder, non-human animal	Connective tissue disorder that occurs in non-human animals.
MONDO:1011310	developmental defect during embryogenesis, non-human animal	Developmental defect during embryogenesis that occurs in non-human animals.
MONDO:1011311	digestive system disorder, non-human animal	Digestive system disorder that occurs in non-human animals.
MONDO:1011312	disease related to transplantation, non-human animal	Disease related to transplantation that occurs in non-human animals.
MONDO:1011313	disorder of development or morphogenesis, non-human animal	Disorder of development or morphogenesis that occurs in non-human animals.
MONDO:1011314	disorder of glycosylation, non-human animal	Disorder of glycosylation that occurs in non-human animals.
MONDO:1011315	disorder of orbital region, non-human animal	Disorder of orbital region that occurs in non-human animals.
MONDO:1011316	disorder of visual system, non-human animal	Disorder of visual system that occurs in non-human animals.
MONDO:1011317	endocrine system disorder, non-human animal	Endocrine system disorder that occurs in non-human animals.
MONDO:1011318	hearing disorder, non-human animal	Hearing disorder that occurs in non-human animals.
MONDO:1011319	hematologic disorder, non-human animal	Hematologic disorder that occurs in non-human animals.
MONDO:1011321	hereditary disease, non-human animal	Hereditary disease that occurs in non-human animals.
MONDO:1011322	iatrogenic disease, non-human animal	Iatrogenic disease that occurs in non-human animals.
MONDO:1011323	idiopathic disease, non-human animal	Idiopathic disease that occurs in non-human animals.
MONDO:1011325	immunodeficiency-related disorder, non-human animal	Immunodeficiency-Related disorder that occurs in non-human animals.
MONDO:1011327	inflammatory disease, non-human animal	Inflammatory disease that occurs in non-human animals.
MONDO:1011328	integumentary system disorder, non-human animal	Integumentary system disorder that occurs in non-human animals.
MONDO:1011329	keratoconjunctivitis, non-human animal	Keratoconjunctivitis that occurs in non-human animals.
MONDO:1011330	lymphoid system disorder, non-human animal	Lymphoid system disorder that occurs in non-human animals.
MONDO:1011331	metabolic disease, non-human animal	Metabolic disease that occurs in non-human animals.
MONDO:1011332	mitochondrial disease, non-human animal	Mitochondrial disease that occurs in non-human animals.
MONDO:1011333	mouth disorder, non-human animal	Mouth disorder that occurs in non-human animals.
MONDO:1011334	mouth mucosa disorder, non-human animal	Mouth mucosa disorder that occurs in non-human animals.
MONDO:1011335	musculoskeletal system disorder, non-human animal	Musculoskeletal system disorder that occurs in non-human animals.
MONDO:1011336	nervous system disorder, non-human animal	Nervous system disorder that occurs in non-human animals.
MONDO:1011337	neurocristopathy, non-human animal	Neurocristopathy that occurs in non-human animals.
MONDO:1011338	nutritional disorder, non-human animal	Nutritional disorder that occurs in non-human animals.
MONDO:1011339	obstetric disorder, non-human animal	Obstetric disorder that occurs in non-human animals.
MONDO:1011340	occupational disorder, non-human animal	Occupational disorder that occurs in non-human animals.
MONDO:1011341	omphalitis, non-human animal	Omphalitis that occurs in non-human animals.
MONDO:1011342	otorhinolaryngologic disease, non-human animal	Otorhinolaryngologic disease that occurs in non-human animals.
MONDO:1011343	perceptual disorders, non-human animal	Perceptual disorders that occurs in non-human animals.
MONDO:1011344	perinatal disease, non-human animal	Perinatal disease that occurs in non-human animals.
MONDO:1011345	poisoning, non-human animal	Poisoning that occurs in non-human animals.
MONDO:1011346	post-bacterial disorder, non-human animal	Post-Bacterial disorder that occurs in non-human animals.
MONDO:1011347	post-COVID-19 disorder, non-human animal	Post-Covid-19 disorder that occurs in non-human animals.
MONDO:1011348	post-infectious disorder, non-human animal	Post-Infectious disorder that occurs in non-human animals.
MONDO:1011349	post-viral disorder, non-human animal	Post-Viral disorder that occurs in non-human animals.
MONDO:1011350	premature aging syndrome, non-human animal	Premature aging syndrome that occurs in non-human animals.
MONDO:1011351	psychiatric disorder, non-human animal	Psychiatric disorder that occurs in non-human animals.
MONDO:1011352	radiation-induced disorder, non-human animal	Radiation-induced disorder that occurs in non-human animals.
MONDO:1011353	radiculitis, non-human animal	Radiculitis that occurs in non-human animals.
MONDO:1011354	reproductive system disorder, non-human animal	Reproductive system disorder that occurs in non-human animals.
MONDO:1011356	sensory ganglionopathy, non-human animal	Sensory ganglionopathy...

v2023-06-01

Overview:

• Number of new terms: 106
• Number of changed labels: 6
• Number of changed definitions: 6
• Number obsoleted terms: 5
• Number of new obsoletion candidates: 14
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100351	POLD1-related polyposis and colorectal cancer syndrome	An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
MONDO:0100472	lissencephaly spectrum disorder with complex brainstem malformation	A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).
MONDO:0100499	multiple congenital anomalies due to 14q32.2 imprinting defect	Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including \coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14)."
MONDO:0100507	multiple congenital anomalies due to 14q32.2 paternally expressed gene defect	Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).
MONDO:0100508	salivary gland type cancer of the breast	A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.
MONDO:0100512	mitochondrial DNA depletion syndrome, hepatocerebral form
MONDO:0800439	syndromic complex neurodevelopmental disorder	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.
MONDO:0800440	HAND1 related congenital heart defect	A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.
MONDO:0800441	NKX2.5-related congenital, conduction and myopathic heart disease	A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.
MONDO:0800442	MYH-6 related congenital heart defects	A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.
MONDO:0800443	DEAF1-associated neurodevelopmental disorder	A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.
MONDO:0850094	drug-induced hearing loss
MONDO:0850098	oligoasthenoteratozoospermia
MONDO:0850122	solid adenocarcinoma with mucin production
MONDO:0850123	autonomic nervous system benign neoplasm
MONDO:0850126	testicular sex cord-stromal benign neoplasm	A sex cord-stromal benign neoplasm that arises from the testis.
MONDO:0850127	epithelioid inflammatory myofibroblastic sarcoma
MONDO:0850144	germ cell benign neoplasm	A benign neoplasm that derives from germ cells.
MONDO:0850150	kidney cortex disease	A kidney disease that is located in the kidney cortex.
MONDO:0850170	spinal muscular atrophy type 0	A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.
MONDO:0850196	medulloblastoma WNT activated	A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
MONDO:0850197	medulloblastoma SHH activated	A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
MONDO:0850198	medulloblastoma non-WNT/non-SHH	A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
MONDO:0850225	autoimmune cholangitis	An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.
MONDO:0850230	chronic urticaria	An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.
MONDO:0850231	erythema nodosum	A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.
MONDO:0850257	mucinous pancreas adenocarcinoma	A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.
MONDO:0850267	childhood acute megakaryoblastic leukemia	An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
MONDO:0850269	core binding factor acute myeloid leukemia	An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
MONDO:0850271	myeloid leukemia associated with down syndrome	An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.
MONDO:0850282	chronic asthma	An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.
MONDO:0850283	acute asthma	An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
MONDO:0850284	extrinsic asthma	A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
MONDO:0850285	environmental induced asthma	An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter.
MONDO:0850286	exercise-induced bronchoconstriction	An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.
MONDO:0850287	aspirin-induced respiratory disease	An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.
MONDO:0850289	human betaherpesvirus 5 infectious disease	A disease caused by infection with Human betaherpesvirus 5.
MONDO:0850301	pemphigoid	An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.
MONDO:0850302	intracranial meningioma	A meningioma that arises within the cranial cavity.
MONDO:0850303	supratentorial meningioma	A meningioma that affects the supratentorial brain.
MONDO:0850306	latent autoimmune diabetes in adults	A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.
MONDO:0850312	anaplastic pleomorphic xanthoastrocytoma	A malignant astr...