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 gene fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
MONDO:0958302	TFEB-rearranged renal cell carcinoma	A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene.
MONDO:0958303	childhood renal cell carcinoma with MiT translocations	A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
MONDO:0958322	intellectual developmental disorder, x-linked, syndromic 37
MONDO:0958323	neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
MONDO:0958324	generalized epilepsy with febrile seizures plus, type 12
MONDO:0958325	thrombocytopenia 12 with or without myopathy
MONDO:0958326	macular dystrophy with or without cone dysfunction
MONDO:0958328	Seckel syndrome 11
MONDO:0958329	Jeffries-Lakhani neurodevelopmental syndrome
MONDO:0958330	developmental and epileptic encephalopathy 113
MONDO:0958331	developmental and epileptic encephalopathy 114
MONDO:0958332	neuromuscular disorder, congenital, with dysmorphic facies
MONDO:0958333	thrombocytopenia 13, syndromic
MONDO:0958334	pulmonary hypertension, primary, 6
MONDO:0958335	cutis laxa, autosomal recessive, type 1d
MONDO:0958342	isolated optic nerve aplasia	A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
MONDO:0958343	PAPASH syndrome	A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.
MONDO:0958344	spinal dermal sinus	A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.
MONDO:0958345	limited dorsal myeloschisis	A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.
MONDO:0958346	isolated transitional filum lipoma	A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.
MONDO:0958347	isolated filum lipoma	A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.
MONDO:0958348	retained medullary cord	A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.
MONDO:0958349	dorsal spinal cord lipoma	A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.
MONDO:0958350	conus spinal cord lipoma	A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.
MONDO:0958351	hemi-myeloschisis	A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis 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 myeloschisis.
MONDO:0958352	true myeloschisis	A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).
MONDO:0958353	intermediate collagen VI-related muscular dystrophy	A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
MONDO:0958354	genetic central precocious puberty in female
MONDO:0958355	secondary central precocious puberty in female
MONDO:0958356	primary central precocious puberty in male
MONDO:0958357	secondary central precocious puberty in male
MONDO:0968944	intellectual developmental disorder, autosomal recessive 82
MONDO:0968945	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
MONDO:0968946	developmental and epileptic encephalopathy 115
MONDO:0968947	neurodevelopmental disorder plus optic atrophy
MONDO:0968949	palmoplantar keratoderma, epidermolytic
MONDO:0968951	hypouricemia, renal
MONDO:0968955	hypocalcified amelogenesis imperfecta
MONDO:0968959	isolated arhinencephaly	Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
MONDO:0968974	large B-cell lymphoma	A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.
MONDO:1010029	aleutian mink disease, human	A human disease caused by infection with Aleutian mink disease parvovirus.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0000070	Mycobacterium tuberculosis, susceptibility	mycobacterium tuberculosis, susceptibility	Mycobacterium tuberculosis, susceptibility
MONDO:0005866	Mycobacterium avium complex disease	mycobacterium avium complex disease	Mycobacterium avium complex disease
MONDO:0007758	epidermolytic palmoplantar keratoderma, 1	epidermolytic palmoplantar keratoderma	epidermolytic palmoplantar keratoderma, 1
MONDO:0010282	Mycobacterium tuberculosis, susceptibility to, X-linked	mycobacterium tuberculosis, susceptibility to, X-linked	Mycobacterium tuberculosis, susceptibility to, X-linked
MONDO:0011399	alpha thalassemia spectrum	alpha thalassemia	alpha thalassemia spectrum
MONDO:0011941	Mycobacterium tuberculosis, susceptibility to, 1	mycobacterium tuberculosis, susceptibility to, 1	Mycobacterium tuberculosis, susceptibility to, 1
MONDO:0012606	Mycobacterium tuberculosis, susceptibility to, 2	mycobacterium tuberculosis, susceptibility to, 2	Mycobacterium tuberculosis, susceptibility to, 2
MONDO:0013045	Mycobacterium tuberculosis, susceptibility to, 3	mycobacterium tuberculosis, susceptibility to, 3	Mycobacterium tuberculosis, susceptibility to, 3
MONDO:0013800	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	Ehlers-Danlos syndrome, kyphoscoliotic type, 2
MONDO:0013867	Brown-Vialetto-van Laere syndrome 2	brown-Vialetto-van Laere syndrome 2	Brown-Vialetto-van Laere syndrome 2
MONDO:0017832	Mycobacterium xenopi infection	mycobacterium xenopi infection	Mycobacterium xenopi infection
MONDO:0022067	Cantu Sanchez-Corona Fragoso syndrome	Cantu sanchez-corona fragoso syndrome	Cantu Sanchez-Corona Fragoso syndrome
MONDO:0022070	Cantu Sanchez-Corona Hernandez syndrome	Cantu sanchez-corona hernandez syndrome	Cantu Sanchez-Corona Hernandez syndrome
MONDO:0022577	Billet Bear syndrome	Billet bear syndrome	Billet Bear syndrome
MONDO:0022639	Cantu Sanchez-Corona Garcia-Cruz syndrome	Cantu sanchez-corona Garcia-Cruz syndrome	Cantu Sanchez-Corona Garcia-Cruz syndrome
MONDO:0022739	Christian Demyer Franken syndrome	Christian demyer franken syndrome	Christian Demyer Franken syndrome
MONDO:0022798	Cohen Lockood Wyborney syndrome	Cohen lockood wyborney syndrome	Cohen Lockood Wyborney syndrome
MONDO:0022862	Cormier Rustin Munnich syndrome	cormier rustin munnich syndrome	Cormier Rustin Munnich syndrome
MONDO:0023068	Engelhard Yatziv syndrome	engelhard yatziv syndrome	Engelhard Yatziv syndrome

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000733	cornea plana		A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
MONDO:0020082	dendritic cell tumor	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.
MONDO:0957421	borna virus encephalitis		A human disease caused by infection with Borna disease virus.
MONDO:0007727	autosomal dominant familial periodic fever	Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.	A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
MONDO:0019146	inherited susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.	A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
MONDO:0009009	hypoplasminogenemia	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.	A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.
MONDO:0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
MONDO:0018938	mucopolysaccharidosis type 4	Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.	A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
MONDO:0020300	autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.	A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
MONDO:0011178	infantile convulsions and choreoathetosis	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.	A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.
MONDO:0011399	alpha thalassemia spectrum	Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.	An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
MONDO:0017615	benign familial infantile epilepsy	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
MONDO:0012999	guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.	A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
MONDO:0013512	hemoglobin H disease	Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.	Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).
MONDO:0015516	symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.	A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
MONDO:0015579	Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.	Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).
MONDO:0015584	febrile infection-related epilepsy syndrome	Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.	A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.
MONDO:0020307	benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.
MONDO:0020308	benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.
MONDO:0022666	cassavism		A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.
MONDO:0032672	intellectual developmental disorder with cardiac defects and dysmorphic facies		A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
MONDO:0032906	spastic paraplegia 82, autosomal recessive		Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.
MONDO:0033954	monoclonal mast cell activation syndrome		Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.

Obsolete terms

Mondo ID	Label
MONDO:0003629	obsolete uterine corpus serous adenocarcinoma
MONDO:0004490	obsolete gestational uterine corpus choriocarcinoma
MONDO:0004527	obsolete congenital granular cell tumor
MONDO:0005190	obsolete macroglobulinemia
MONDO:0005603	obsolete pancreatic tubular adenocarcinoma
MONDO:0008431	obsolete slipped femoral capital epiphyses
MONDO:0011940	obsolete Mycobacterium tuberculosis, susceptibility to
MONDO:0015979	obsolete hereditary predisposition to infections
MONDO:0018347	obsolete severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
MONDO:0019482	obsolete dendritic cell sarcoma not otherwise specified
MONDO:0019946	obsolete ligneous conjunctivitis
MONDO:0020327	obsolete classic Hodgkin lymphoma, nodular sclerosis type
MONDO:0020548	obsolete ocular pemphigoid
MONDO:0022819	obsolete congenital arteriovenous shunt
MONDO:0022953	obsolete delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
MONDO:0023038	obsolete eccentrochondrodysplasia
MONDO:0023041	obsolete ectodermal dysplasia Berlin type
MONDO:0023194	obsolete frints de Smet Fabry Fryns syndrome
MONDO:0024345	obsolete pityriasis streptogenes
MONDO:0043079	obsolete acute articular rheumatism
MONDO:0100005	obsolete primary mast cell activation syndrome
MONDO:0800294	obsolete progressive encephalomyelitis with rigidity
MONDO:0957316	obsolete epidermolytic hyperkeratosis

New obsoletion candidates

Mondo ID	Label
MONDO:0000169	microphthalmia, isolated, with cataract
MONDO:0000584	B cell linker protein deficiency
MONDO:0000866	hereditary myoglobinuria
MONDO:0000884	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
MONDO:0004031	ovary mixed epithelial carcinoma
MONDO:0006465	thyroid gland oncocytic follicular carcinoma
MONDO:0015429	choroideremia-hypopituitarism syndrome
MONDO:0020659	upper tract urothelial carcinoma
MONDO:0022575	biliary hypoplasia
MONDO:0022577	Billet Bear syndrome
MONDO:0022858	continuous spike-wave during slow sleep syndrome
MONDO:0022869	coronary arteries congenital malformation
MONDO:0022982	die Smulders Vles Fryns syndrome
MONDO:0034823	oral-facial-digital syndrome with short stature and brachymesophalangy
MONDO:0035547	predisposition to severe viral infection due to IRF7 deficiency
MONDO:0042724	macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations
MONDO:0042965	Machado-Joseph disease type 5
MONDO:0859345	branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID	Label
MONDO:0024886	serous adenofibroma