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 steatotic liver disease	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.
MONDO:0018965	Alport syndrome	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.	A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.
MONDO:0007652	gastric mucosal hypertrophy	MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.	A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.
MONDO:0010641	X-linked diffuse leiomyomatosis-Alport syndrome	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.	A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
MONDO:0011500	Becker nevus syndrome	Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.	Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.
MONDO:0011738	bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.
MONDO:0011771	neuronopathy, distal hereditary motor, autosomal recessive 3	Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
MONDO:0011787	autosomal recessive limb-girdle muscular dystrophy type 2I	Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.	A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
MONDO:0012726	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.	A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
MONDO:0013894	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome		Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
MONDO:0013999	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
MONDO:0014899	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
MONDO:0015050	esophageal duplication cyst	Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.	A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.
MONDO:0016425	Hughes-Stovin syndrome	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
MONDO:0016669	sickle cell-hemoglobin c disease syndrome		A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
MONDO:0016670	sickle cell-hemoglobin d disease syndrome		A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
MONDO:0016671	sickle cell-hemoglobin E disease syndrome		A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).
MONDO:0016672	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.
MONDO:0018346	ferro-cerebro-cutaneous syndrome		Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
MONDO:0018739	neonatal alloimmune neutropenia		A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.
MONDO:0019149	cholesteryl ester storage disease	Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.	A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
MONDO:0020348	acute motor and sensory axonal neuropathy	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS).	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).
MONDO:0020349	acute motor axonal neuropathy	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS).	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).
MONDO:0020563	dedifferentiated liposarcoma	Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.	A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.

Obsolete terms

Mondo ID	Label
MONDO:0019743	obsolete nephropathy secondary to a storage or other metabolic disease
MONDO:0015217	obsolete non-syndromic developmental defect of the eye
MONDO:0001500	obsolete gender identity disorder
MONDO:0001693	obsolete ego-dystonic sexual orientation
MONDO:0016756	obsolete inherited nervous system cancer-predisposing syndrome
MONDO:0017891	obsolete inherited renal cancer-predisposing syndrome
MONDO:0015334	obsolete branchial arch or oral-acral syndrome
MONDO:0015368	obsolete neuro-ophthalmological disease
MONDO:0020157	obsolete syndromic palpebral coloboma
MONDO:0020167	obsolete malposition of external canthus
MONDO:0019724	obsolete secondary glomerular disease
MONDO:0006514	obsolete recalcitrant atopic dermatitis
MONDO:0015488	obsolete predominantly large-vessel vasculitis
MONDO:0007299	obsolete Sotos syndrome 1
MONDO:0015221	obsolete non-syndromic respiratory or mediastinal malformation
MONDO:0007607	obsolete Birt-Hogg-Dube syndrome
MONDO:0016072	obsolete anomaly of puberty or/and menstrual cycle of genetic origin
MONDO:0016170	obsolete chronic polyradiculoneuropathy
MONDO:0015359	obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy
MONDO:0015361	obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy
MONDO:0015503	obsolete nose and cavum anomaly
MONDO:0018562	obsolete hereditary otorhinolaryngological malformation
MONDO:0020197	obsolete EEC syndrome and related syndrome
MONDO:0015950	obsolete inherited skin tumor
MONDO:0020211	obsolete syndromic keratoconus
MONDO:0020235	obsolete lens size anomaly
MONDO:0020176	obsolete palpebral sebaceous gland tumor
MONDO:0015141	obsolete disorder of medulla oblongata
MONDO:0020215	obsolete syndromic corneal dystrophy
MONDO:0019292	obsolete dermis elastic tissue disorder
MONDO:0019520	obsolete syndromic lymphedema
MONDO:0008347	obsolete idiopathic and/or familial pulmonary arterial hypertension
MONDO:0015620	obsolete syndromic urogenital tract malformation
MONDO:0020238	obsolete inherited vitreous-retinal disease
MONDO:0008406	obsolete autosomal recessive Emery-Dreifuss muscular dystrophy
MONDO:0015310	obsolete syndromic optic nerve hypoplasia
MONDO:0020145	obsolete developmental defect of the eye
MONDO:0015145	obsolete neurovascular malformation
MONDO:0019723	obsolete disease of glomerular basement membrane
MONDO:0017656	obsolete motor stereotypies
MONDO:0020165	obsolete syndromic epicanthus
MONDO:0020203	obsolete pigmented conjunctival lesion
MONDO:0020240	obsolete syndromic retinitis pigmentosa
MONDO:0008807	obsolete apnea, central sleep
MONDO:0016114	obsolete bulbospinal muscular atrophy of childhood
MONDO:0015508	obsolete hereditary parenchymatous liver disease
MONDO:0020237	obsolete lens shape anomaly
MONDO:0015509	obsolete hereditary biliary tract disease
MONDO:0015111	obsolete gastroesophageal disease
MONDO:0020194	obsolete congenital alacrima
MONDO:0015178	obsolete congenital intestinal transport defect
MONDO:0018384	obsolete avascular necrosis of genetic origin
MONDO:0015490	obsolete predominantly small-vessel vasculitis
MONDO:0019699	obsolete slender bone dysplasia
MONDO:0015130	obsolete acquired chronic primary adrenal insufficiency
MONDO:0015212	obsolete syndromic intestinal malformation
MONDO:0015246	obsolete syndromic anorectal malformation
MONDO:0015778	obsolete syndromic hypothyroidism
MONDO:0015180	obsolete intestinal disease due to fat malabsorption
MONDO:0016121	obsolete congenital myotonia
MONDO:0019693	obsolete multiple metaphyseal dysplasia
MONDO:0009997	obsolete Roberts syndrome
MONDO:0017270	obsolete autosomal ichthyosis syndrome
MONDO:0010204	obsolete lysosomal acid lipase deficiency
MONDO:0016565	obsolete syndromic genetic obesity
MONDO:0017916	obsolete pure or complex X-linked spastic paraplegia
MONDO:0020158	obsolete eyelids malposition disorder
MONDO:0020174	obsolete precancerous lesion of palpebral epidermis
MONDO:0015921	obsolete ARX-related epileptic encephalopathy
MONDO:0016154	obsolete qualitative or quantitative defects of myotubularin
MONDO:0016115	obsolete bulbospinal muscular atrophy of adulthood
MONDO:0019271	obsolete acrokeratoderma
MONDO:0011499	obsolete Okamoto syndrome
MONDO:0015822	obsolete acquired neutropenia
MONDO:0018329	obsolete persistent combined dystonia
MONDO:0016536	obsolete autosomal recessive lymphoproliferative disease
MONDO:0019126	obsolete intractable diarrhea of infancy
MONDO:0957024	obsolete hereditary 46,XX disorder of sex development
MONDO:0013524	obsolete bleeding diathesis due to thromboxane synthesis deficiency
MONDO:0013742	obsolete familial mesial temporal lobe epilepsy with febrile seizures
MONDO:0018113	obsolete isolated plagiocephaly
MONDO:0018114	obsolete isolated brachycephaly
MONDO:0017673	obsolete isolated focal palmoplantar keratoderma
MONDO:0016805	obsolete isolated oxidative phosphorylation complex disorder
MONDO:0018782	obsolete type 1 interferonopathy
MONDO:0014753	obsolete autosomal recessive optic atrophy
MONDO:0016803	obsolete unspecified inborn mitochondrial disorder
MONDO:0025511	obsolete inherited neuroendocrine tumor
MONDO:0015088	obsolete autosomal dominant pure spastic paraplegia
MONDO:0015089	obsolete autosomal recessive complex spastic paraplegia
MONDO:0015090	obsolete autosomal recessive pure spastic paraplegia
MONDO:0015132	obsolete immunodeficiency predominantly affecting antibody production
MONDO:0015133	obsolete quantitative and/or qualitative congenital phagocyte defect
MONDO:0015135	obsolete primary immunodeficiency due to a genetic defect in innate immunity
MONDO:0015144	obsolete brain inflammatory disease
MONDO:0015179	obsolete intestinal disease due to vitamin absorption anomaly
MONDO:0015182	obsolete congenital enteropathy involving intestinal mucosa development
MONDO:0015207	obsolete non-syndromic esophageal malformation
MONDO:0015208	obsolete syndromic esophageal malformation
MONDO:0015209	obsolete non-syndromic gastroduodenal malformation
MONDO:0015210	obsolete syndromic gastroduodenal malformation
MONDO:0015211	obsolete non-syndromic intestinal malformation
MONDO:0015213	obsolete non-syndromic visceral malformation
MONDO:0015214	obsolete syndromic visceral malformation
MONDO:0015219	obsolete non-syndromic central nervous system malformation
MONDO:0015222	obsolete syndromic respiratory or mediastinal malformation
MONDO:0015227	obsolete non-syndromic limb malformation
MONDO:0015323	obsolete teratogenic Pierre Robin syndrome
MONDO:0015330	obsolete overgrowth/obesity syndrome
MONDO:0015360	obsolete autosomal dominant hereditary axonal motor and sensory neuropathy
MONDO:0015365	obsolete autosomal dominant hereditary sensory and autonomic neuropathy
MONDO:0015366	obsolete autosomal recessive hereditary sensory and autonomic neuropathy
MONDO:0015385	obsolete external auditory canal aplasia/hypoplasia
MONDO:0020205	obsolete bulbar conjunctival dermoid or conjunctival dermolipoma
MONDO:0015398	obsolete hemifacial microsomia
MONDO:0015412	obsolete median facial cleft
MONDO:0015415	obsolete oblique facial cleft
MONDO:0015418	obsolete lateral facial cleft
MONDO:0015470	obsolete familial isolated dilated cardiomyopathy
MONDO:0015478	obsolete paramedian facial cleft
MONDO:0015482	obsolete otomandibular dysplasia
MONDO:0015485	obsolete primary hereditary glaucoma
MONDO:0015489	obsolete predominantly medium-vessel vasculitis
MONDO:0015497	obsolete hypoglossia/aglossia
MONDO:0015499	obsolete paralytic facial malformation
MONDO:0015504	obsolete larynx anomaly
MONDO:0015505	obsolete tracheal anomaly
MONDO:0015586	obsolete benign familial mesial temporal lobe epilepsy
MONDO:0015591	obsolete limbic encephalitis associated with antibodies to cell membrane antigens
MONDO:0015617	obsolete hereditary gastro-esophageal disease
MONDO:0015619	obsolete non-syndromic urogenital tract malformation
MONDO:0015668	obsolete hereditary dentin defect
MONDO:0015679	obsolete autosomal thrombocytopenia with normal platelets
MONDO:0015682	obsolete primary peritoneal tumor
MONDO:0015683	obsolete primary malignant peritoneal tumor
MONDO:0015765	obsolete congenital myopathy with cores
MONDO:0015777	obsolete adult hypothyroidism
MONDO:0020195	obsolete excretory apparatus of the lacrimal system anomaly
MONDO:0015817	obsolete aggressive primary cutaneous T-cell lymphoma
MONDO:0015818	obsolete aggressive primary cutaneous B-cell lymphoma
MONDO:0015823	obsolete primary immunodeficiency due to a defect in adaptive immunity
MONDO:0015828	obsolete uterovaginal malformation
MONDO:0015829	obsolete non-syndromic uterovaginal malformation
MONDO:0015837	obsolete Unicervical bicornuate uterus
MONDO:0015846	obsolete syndromic uterovaginal malformation
MONDO:0015852	obsolete excess breast volume or number
MONDO:0015853	obsolete deficient breast volume or number
MONDO:0015860	obsolete anomaly of puberty or/and menstrual cycle
MONDO:0015902	obsolete major hypertriglyceridemia
MONDO:0015915	obsolete cerebellar malformation
MONDO:0015930	obsolete respiratory malformation
MONDO:0015932	obsolete non-syndromic urogenital tract malformation of female
MONDO:0015933	obsolete non-syndromic urogenital tract malformation of male
MONDO:0015961	obsolete hereditary head and neck malformation
MONDO:0015975	obsolete hyper-IgM syndrome with susceptibility to opportunistic infections
MONDO:0015976	obsolete hyper-IgM syndrome without susceptibility to opportunistic infections
MONDO:0016034	obsolete cleft lip with or without cleft palate
MONDO:0016054	obsolete cerebral malformation
MONDO:0016109	obsolete autosomal recessive distal myopathy
MONDO:0016116	obsolete generalized bulbospinal muscular atrophy
MONDO:0016125	obsolete infectious, fungal or parasitic myopathy
MONDO:0016149	obsolete qualitative or quantitative defects of merosin
MONDO:0016150	obsolete qualitative or quantitative defects of integrin alpha-7
MONDO:0016152	obsolete qualitative or quantitative defects of calpain
MONDO:0016157	obsolete qualitative or quantitative defects of fukutin
MONDO:0016169	obsolete chronic acquired demyelinating polyneuropathy
MONDO:0016172	obsolete acquired sensory ganglionopathy
MONDO:0016173	obsolete non-paraneoplastic sensory ganglionopathy
MONDO:0016174	obsolete paraneoplastic sensory ganglionopathy
MONDO:0016179	obsolete acquired amyloid peripheral neuropathy
MONDO:0016182	obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016183	obsolete qualitative or quantitative defects of protein glycosyltransferase-like
MONDO:0016196	obsolete qualitative or quantitative defects of emerin
MONDO:0016200	obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0016201	obsolete qualitative or quantitative defects of myotilin
MONDO:0016221	obsolete temporomandibular joint anomaly
MONDO:0016224	obsolete autosomal dominant proximal spinal muscular atrophy
MONDO:0016229	obsolete hereditary vascular anomaly
MONDO:0016230	obsolete simple vascular malformation
MONDO:0016348	obsolete non-genetic cardiac rhythm disease
MONDO:0016352	obsolete idiopathic inherited hypercalciuria
MONDO:0016355	obsolete semilobar holoprosencephaly
MONDO:0016361	obsolete isolated hereditary giant platelet disorder
MONDO:0016375	obsolete acquired peripheral movement disorder
MONDO:0016409	obsolete primary congenital hypothyroidism
MONDO:0016592	obsolete non-hereditary degenerative ataxia
MONDO:0016428	obsolete multiple sclerosis variant
MONDO:0016434	obsolete acquired dermis elastic tissue disorder
MONDO:0016493	obsolete variant of Guillain-Barre syndrome
MONDO:0016494	obsolete regional variant of Guillain-Barre syndrome
MONDO:0016495	obsolete functional variant of Guillain-Barre syndrome
MONDO:0016513	obsolete alpha-thalassemia-related diseases
MONDO:0016518	obsolete isolated punctate palmoplantar keratoderma
MONDO:0016520	obsolete isolated Klippel-Feil syndrome
MONDO:0016524	obsolete congenital vascular bone syndrome
MONDO:0016579	obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis
MONDO:0016589	obsolete progressive cerebello-cerebral atrophy
MONDO:0016599	obsolete autosomal dominant secondary polycythemia
MONDO:0016647	obsolete autosomal recessive Stickler syndrome
MONDO:0016667	obsolete sickle cell disease associated with an other hemoglobin anomaly
MONDO:0016678	obsolete maternal disease-related embryofetopathy
MONDO:0016701	obsolete oligoastrocytic tumor
MONDO:0016708	obsolete embryonal tumor of neuroepithelial tissue
MONDO:0016721	obsolete pineal tumor of neuroepithelial tissue
MONDO:0016725	obsolete pineal parenchymal tumor of intermediate differenciation
MONDO:0016726	obsolete neuronal tumor
MONDO:0016738	obsolete primary germ cell tumor of central nervous system
MONDO:0016744	obsolete primary melanocytic tumor of central nervous system
MONDO:0016794	obsolete maternally-inherited mitochondrial myopathy
MONDO:0016797	obsolete multiple mitochondrial DNA deletion syndrome
MONDO:0016815	obsolete Leigh syndrome with leukodystrophy
MONDO:0016816	obsolete Leigh syndrome with nephrotic syndrome
MONDO:0016899	obsolete Duchenne and Becker muscular dystrophy
MONDO:0016980	obsolete ATR-X-related syndrome
MONDO:0017027	obsolete primary interstitial lung disease specific to adulthood
MONDO:0017030	obsolete interstitial lung disease in childhood and adulthood
MONDO:0017031	obsolete primary interstitial lung disease in childhood and adulthood
MONDO:0017034	obsolete secondary interstitial lung disease in childhood and adulthood
MONDO:0017036	obsolete Langerhans cell histiocytosis in childhood and adulthood
MONDO:0017040	obsolete exposure-related interstitial lung disease
MONDO:0017049	obsolete hypomyelination neuropathy-arthrogryposis syndrome
MONDO:0017057	obsolete hereditary thrombocytopenia with normal platelets
MONDO:0017059	obsolete neural tube closure defect
MONDO:0017090	obsolete midline cerebral malformation
MONDO:0017104	obsolete central nervous system cystic malformation
MONDO:0017114	obsolete global cerebellar malformation
MONDO:0017127	obsolete inherited soft tissue tumor
MONDO:0017128	obsolete inherited digestive tract tumor
MONDO:0017129	obsolete inherited cardiac tumor
MONDO:0017131	obsolete hereditary cardiac anomaly
MONDO:0017132	obsolete hereditary ATTR amyloidosis
MONDO:0017144	obsolete alpha-thalassemia and related diseases
MONDO:0017146	obsolete sickle cell disease and related diseases
MONDO:0017173	obsolete non-syndromic male infertility due to sperm motility disorder
MONDO:0017218	obsolete septopreoptic holoprosencephaly
MONDO:0017234	obsolete inherited prion disease
MONDO:0017240	obsolete acrodysostosis with multiple hormone resistance
MONDO:0017241	obsolete AP4-related intellectual disability and spastic paraplegia
MONDO:0017262	obsolete inherited non-syndromic ichthyosis
MONDO:0017263	obsolete inherited ichthyosis syndromic form
MONDO:0017288	obsolete DICER1 syndrome
MONDO:0017302	obsolete qualitative or quantitative defects of troponin
MONDO:0017336	obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
MONDO:0017397	obsolete constitutional dyserythropoietic anemia
MONDO:0017420	obsolete intercalary limb defects
MONDO:0017421	obsolete non-syndromic terminal limb defects
MONDO:0017422	obsolete adactyly of hand
MONDO:0017423	obsolete split hand or/and split foot malformation
MONDO:0017428	obsolete congenital deformities of fingers
MONDO:0017429	obsolete joint formation defects
MONDO:0017430	obsolete non-syndromic congenital joint dislocations
MONDO:0017431	obsolete non-syndromic limb overgrowth
MONDO:0017447	obsolete congenital absence/hypoplasia of thumb
MONDO:0017448	obsolete congenital absence/hypoplasia of fingers excluding thumb
MONDO:0017506	obsolete congenital absence/hypoplasia of thumb, unilateral
MONDO:0017507	obsolete congenital absence/hypoplasia of thumb, bilateral
MONDO:0017508	obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral
MONDO:0017581	obsolete familial infantile gigantism
MONDO:0017629	obsolete sodium channelopathy-related small fiber neuropathy
MONDO:0017651	obsolete primary myoclonus
MONDO:0017667	obsolete isolated diffuse palmoplantar keratoderma
MONDO:0017670	obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma
MONDO:0017676	obsolete marginal papular palmoplantar keratoderma
MONDO:0017709	obsolete disorder of lipid absorption and transport
MONDO:0017710	obsolete congenital systemic veins anomaly
MONDO:0017742	obsolete disorder of O-xylosylglycan synthesis
MONDO:0017743	obsolete disorder of O-N-acetylgalactosaminylglycan synthesis
MONDO:0017744	obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
MONDO:0017745	obsolete disorder of O-mannosylglycan synthesis
MONDO:0017756	obsolete disorder of pterin metabolism
MONDO:0017760	obsolete disorder of other vitamins and cofactors metabolism and transport
MONDO:0017828	obsolete primary renal tubular acidosis
MONDO:0017912	obsolete X-linked pure spastic paraplegia
MONDO:0017914	obsolete pure or complex autosomal dominant spastic paraplegia
MONDO:0017915	obsolete pure or complex autosomal recessive spastic paraplegia
MONDO:0019720	obsolete non-syndromic renal or urinary tract malformation
MONDO:0017922	obsolete deafness-onychodystrophy syndrome
MONDO:0017950	obsolete microcephalic primordial dwarfism
MONDO:0017954	obsolete pyogenic autoinflammatory syndrome
MONDO:0017955	obsolete granulomatous autoinflammatory syndrome
MONDO:0017961	obsolete 46,XX disorder of gonadal development
MONDO:0017962	obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess
MONDO:0017963	obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen
MONDO:0017964	obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen
MONDO:0017966	obsolete 46,XY disorder of gonadal development
MONDO:0017969	obsolete 46,XY disorder of sex development of endocrine origin
MONDO:0017974	obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
MONDO:0021034	obsolete hereditary alopecia
MONDO:0018112	obsolete isolated scaphocephaly
MONDO:0018144	obsolete congenital myasthenic syndromes with glycosylation defect
MONDO:0018292	obsolete congenital disorder of glycosylation-related bone disorder
MONDO:0018185	obsolete congenital anomaly of the great veins
MONDO:0018187	obsolete hereditary syndromic Pierre Robin syndrome
MONDO:0018188	obsolete hereditary intestinal polyposis
MONDO:0018191	obsolete tumor of testis and paratestis
MONDO:0018222	obsolete X-linked intellectual disability due to GRIA3 anomalies
MONDO:0018239	obsolete aggrecan-related bone disorder
MONDO:0018241	obsolete primary short bowel syndrome
MONDO:0018246	obsolete homozygous 2p21 microdeletion syndrome
MONDO:0018262	obsolete fetal anticonvulsant syndrome
MONDO:0018277	obsolete congenital muscular dystrophy with cerebellar involvement
MONDO:0018279	obsolete congenital muscular dystrophy without intellectual disability
MONDO:0018283	obsolete primary qualitative or quantitative defects of alpha-dystroglycan
MONDO:0018318	obsolete disorder of asparagine metabolism
MONDO:0018337	obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
MONDO:0018340	obsolete hereditary isolated aplastic anemia
MONDO:0018385	obsolete osteochondrosis of genetic origin
MONDO:0018393	obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation
MONDO:0018451	obsolete X-linked distal hereditary motor neuropathy
MONDO:0018454	obsolete dysostosis of genetic origin
MONDO:0018496	obsolete ARX-related encephalopathy-brain malformation spectrum
MONDO:0018529	obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1
MONDO:0018532	obsolete adenocarcinoma of liver and intrahepatic biliary tract
MONDO:0018538	obsolete inherited digestive cancer-predisposing syndrome
MONDO:0018550	obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
MONDO:0018574	obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome
MONDO:0018575	obsolete microcephalic primordial dwarfism-insulin resistance syndrome
MONDO:0018579	obsolete disorder of ketone body transport
MONDO:0018580	obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
MONDO:0018665	obsolete X-linked acrogigantism due to a point mutation
MONDO:0018701	obsolete congenital nemaline myopathy
MONDO:0018720	obsolete common cystic lymphatic malformation
MONDO:0018731	obsolete lethal multiple congenital anomalies/dysmorphic syndrome
MONDO:0018743	obsolete immune-mediated acquired neuromuscular junction disease
MONDO:0018745	obsolete superficial pemphigus
MONDO:0018758	obsolete familial patent arterial duct
MONDO:0018771	obsolete congenital anomaly of ventricular septum
MONDO:0020130	obsolete malformation of the cerebellar vermis
MONDO:0018775	obsolete axonal hereditary motor and sensory neuropathy
MONDO:0018779	obsolete hypercontractile muscle stiffness syndrome
MONDO:0018786	obsolete pontine autosomal dominant microangiopathy with leukoencephalopathy
MONDO:0018788	obsolete COL4A1 or COL4A2-related cerebral small vessel disease
MONDO:0018791	obsolete Moyomoya angiopathy
MONDO:0018796	obsolete isolated constitutional thrombocytopenia
MONDO:0018831	obsolete HTRA1-related cerebral small vessel disease
MONDO:0018888	obsolete congenital cornea plana
MONDO:0018916	obsolete isolated anorectal malformation
MONDO:0020177	obsolete pigmented palpebral tumor
MONDO:0019044	obsolete tumor of hematopoietic and lymphoid tissues
MONDO:0019063	obsolete vascular anomaly
MONDO:0019138	obsolete bleeding diathesis due to a collagen receptor defect
MONDO:0019150	obsolete familial isolated restrictive cardiomyopathy
MONDO:0019176	obsolete trichorhinophalangeal syndrome type I or III
MONDO:0019213	obsolete cerebral organic aciduria
MONDO:0019224	obsolete inborn disorder of gamma-aminobutyric acid metabolism
MONDO:0019227	obsolete inborn disorder of glycerol metabolism
MONDO:0019277	obsolete epidermal appendage anomaly
MONDO:0019281	obsolete isolated genetic hair shaft abnormality
MONDO:0019286	obsolete sebaceous gland anomaly
MONDO:0019486	obsolete myoclonic epilepsy of infancy
MONDO:0019505	obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
MONDO:0019513	obsolete esophageal malformation
MONDO:0019541	obsolete non-infectious posterior uveitis
MONDO:0019593	obsolete 46,XX disorder of sex development induced by fetal androgens excess
MONDO:0019597	obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
MONDO:0019599	obsolete primary lipodystrophy
MONDO:0019608	obsolete 46,XX disorder of sex development induced by maternal-derived androgen
MONDO:0019619	obsolete duplication of the esophagus
MONDO:0019688	obsolete sulfation-related bone disorder
MONDO:0019689	obsolete perlecan-related bone disorder
MONDO:0019692	obsolete multiple epiphyseal dysplasia and pseudoachondroplasia
MONDO:0019697	obsolete mesomelic and rhizo-mesomelic dysplasia
MONDO:0019712	obsolete patellar dysostosis
MONDO:0019714	obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy
MONDO:0019718	obsolete lethal chondrodysplasia
MONDO:0019758	obsolete midline interhemispheric variant of holoprosencephaly
MONDO:0019800	obsolete chronic hepatic porphyria
MONDO:0019816	obsolete anomaly of the tricuspid subvalvular apparatus
MONDO:0019822	obsolete arterial duct anomaly
MONDO:0019826	obsolete abnormal origin or aberrant course of coronary artery
MONDO:0019831	obsolete congenital anomaly of the coronary sinus
MONDO:0019837	obsolete atrial appendage anomaly
MONDO:0019844	obsolete pituitary hormone deficiency secondary to storage disease
MONDO:0019998	obsolete gastroduodenal malformation
MONDO:0019999	obsolete intestinal malformation
MONDO:0020018	obsolete cranial malformation
MONDO:0020019	obsolete digestive tract malformation
MONDO:0020020	obsolete visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0020023	obsolete respiratory or mediastinal malformation
MONDO:0020039	obsolete 46,XX disorder of sex development induced by androgens excess
MONDO:0020069	obsolete chronic encephalitis
MONDO:0020081	obsolete macrophage or histiocytic tumor
MONDO:0020084	obsolete lymphoproliferative disease associated with primary immune disease
MONDO:0020093	obsolete autosomal dominant isolated diffuse palmoplantar keratoderma
MONDO:0020096	obsolete autosomal recessive isolated diffuse palmoplantar keratoderma
MONDO:0020118	obsolete dense granule disease
MONDO:0020125	obsolete acquired neuromuscular junction disease
MONDO:0020131	obsolete malformation of the cerebellar hemispheres
MONDO:0020132	obsolete cranial nerve and nuclear aplasia
MONDO:0020133	obsolete posterior fossa malformation
MONDO:0020144	obsolete cerebrovascular dementia
MONDO:0020146	obsolete major induction processes eye anomaly
MONDO:0020147	obsolete anophthalmia-microphthalmia syndrome
MONDO:0020148	obsolete syndromic aniridia
MONDO:0020154	obsolete microblepharon-ablephara syndrome
MONDO:0020155	obsolete eyelid border anomaly
MONDO:0020156	obsolete syndromic ankyloblepharon
MONDO:0020160	obsolete secondary entropion
MONDO:0020162	obsolete secondary ectropion
MONDO:0020163	obsolete canthal anomaly
MONDO:0020164	obsolete epicanthal fold
MONDO:0020178	obsolete palpebral lentiginosis
MONDO:0020180	obsolete palpebral piliary tumor
MONDO:0020181	obsolete mesenchymatous palpebral tumor
MONDO:0020193	obsolete secretory apparatus of the lacrimal system anomaly
MONDO:0020196	obsolete anomaly of the secretory and excretory apparatus of the lacrimal system
MONDO:0020210	obsolete syndromic hyperopia
MONDO:0020216	obsolete secondary dysgenetic glaucoma
MONDO:0020219	obsolete corneogoniodysgenesis
MONDO:0020256	obsolete congenital trochlear nerve palsy
MONDO:0020275	obsolete oculocutaneous or ocular albinism
MONDO:0020284	obsolete heart position anomaly
MONDO:0020285	obsolete transposition of the great arteries and conotruncal cardiac anomaly
MONDO:0020286	obsolete aortic malformation
MONDO:0020287	obsolete pulmonary artery or pulmonary branch anomaly
MONDO:0020288	obsolete atrioventricular valve anomaly
MONDO:0020293	obsolete ascending aorta anomaly
MONDO:0020294	obsolete atrial defect and interatrial communication
MONDO:0020339	obsolete X-linked complex spastic paraplegia
MONDO:0020343	obsolete alpha-crystallinopathy
MONDO:0020345	obsolete presynaptic congenital myasthenic syndrome
MONDO:0020346	obsolete synaptic congenital myasthenic syndrome
MONDO:0020375	obsolete coralliform cataract
MONDO:0020392	obsolete discrete fixed membranous subaortic stenosis
MONDO:0020506	obsolete ovarioleukodystrophy
MONDO:0020524	obsolete primary parathyroid hyperplasia
MONDO:0020537	obsolete occupational allergic alveolitis
MONDO:0021927	obsolete arthrogryposis epileptic seizures migrational brain disorder
MONDO:0022397	obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
MONDO:0022399	obsolete retinal ciliopathy due to mutation in the RPGR gene
MONDO:0022400	obsolete retinal ciliopathy due to mutation in the RPGRIP gene
MONDO:0022404	obsolete retinal ciliopathy due to mutation in Usher gene
MONDO:0022405	obsolete retinal ciliopathy due to mutation in nephronophthisis gene
MONDO:0022407	obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene
MONDO:0022409	obsolete nephropathy-associated ciliopathy
MONDO:0024471	obsolete non-inflammatory vasculopathy
MONDO:0028618	obsolete gastroenteric neuroendocrine neoplasm
MONDO:0033947	obsolete hereditary angioedema with normal C1Inh
MONDO:0034024	obsolete kyphoscoliotic Ehlers-Danlos syndrome
MONDO:0034217	obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
MONDO:0034661	obsolete syndromic biliary atresia
MONDO:0034669	obsolete non-syndromic preaxial polydactyly
MONDO:0034670	obsolete non-syndromic postaxial polydactyly
MONDO:0034671	obsolete non-syndromic complex polydactyly
MONDO:0034872	obsolete large granular lymphocyte leukemia
MONDO:0034901	obsolete ATP13A2-related parkinsonism
MONDO:0034954	obsolete syndromic vitreoretinopathy
MONDO:0035002	obsolete isolated inherited retinal disorder
MONDO:0035014	obsolete primary orthostatic disorder
MONDO:0035075	obsolete secondary early-onset glaucoma of genetic origin
MONDO:0035160	obsolete progressive myoclonic epilepsy with neuroserpin inclusion bodies
MONDO:0035162	obsolete PIK3CA-related overgrowth syndrome
MONDO:0035561	obsolete sporadic human prion disease
MONDO:0035645	obsolete inherited gynecological cancer-predisposing syndrome
MONDO:0035682	obsolete fibrous dysplasia/McCune-Albright syndrome
MONDO:0035684	obsolete epidermolysis bullosa simplex without extracutaneous involvement
MONDO:0035685	obsolete epidermolysis bullosa simplex with extracutaneous involvement
MONDO:0035689	obsolete syndrome of reduced sensitivity to thyroid hormone
MONDO:0036042	obsolete KAT6B-related multiple congenital anomalies syndrome
MONDO:0036192	obsolete EN1-related dorsoventral syndrome
MONDO:0038268	obsolete autoimmune neurological channelopathy
MONDO:0044655	obsolete c12orf65-related combined oxidative phosphorylation defect
MONDO:0100189	obsolete apolipoprotein A-I deficiency
MONDO:0100282	obsolete SC phocomelia syndrome
MONDO:0100343	obsolete antenatal Bartter syndrome
MONDO:0800075	obsolete dysostosis with predominant vertebral with and without costal involvement
MONDO:0800084	obsolete primary bone dysplasia with increased bone density
MONDO:0800085	obsolete dysostosis with predominant craniofacial involvement
MONDO:0800086	obsolete primary bone dysplasia with multiple joint dislocations
MONDO:0800087	obsolete type 11 collagen-related bone disorder
MONDO:0800089	obsolete primary bone dysplasia with disorganized development of skeletal components
MONDO:0800090	obsolete ectrodactyly with and without other manifestations
MONDO:0800091	obsolete overgrowth or tall stature syndrome with skeletal involvement
MONDO:0800092	obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy
MONDO:0800093	obsolete dysostosis with brachydactyly without extraskeletal manifestations
MONDO:0800094	obsolete dysostosis with brachydactyly with extraskeletal manifestations
MONDO:0800095	obsolete syndrome with synostosis or other joint formation defect
MONDO:0800342	obsolete cap myopathy 2
MONDO:0858986	obsolete autosomal dominant spastic paraplegia type 80
MONDO:0858987	obsolete autosomal recessive spastic paraplegia type 82
MONDO:0858988	obsolete autosomal recessive spastic paraplegia type 83
MONDO:0957001	obsolete hereditary mixed dermis disorder
MONDO:0957009	obsolete hereditary posterior fossa malformation
MONDO:0957025	obsolete hereditary 46,XY disorder of sex development

New obsoletion candidates

Mondo ID	Label
MONDO:0000075	neuronopathy, distal hereditary motor
MONDO:0002013	lymphangioma
MONDO:0002063	breast papillomatosis
MONDO:0020489	familial hyperreninemic hypoaldosteronism type 1
MONDO:0010123	absent thumb-short stature-immunodeficiency syndrome
MONDO:0020075	hereditary non-syndromic obesity
MONDO:0011469	congenital amegakaryocytic thrombocytopenia
MONDO:0011876	juvenile absence epilepsy
MONDO:0014695	glioma susceptibility 9
MONDO:0015255	blepharophimosis-radioulnar synostosis syndrome
MONDO:0015343	secondary acute transverse myelitis
MONDO:0015593	limbic encephalitis with nCMAgs antibodies
MONDO:0016287	adenoid basal carcinoma of the cervix uteri
MONDO:0018107	idiopathic recurrent and disabling cutaneous herpes
MONDO:0018110	lethal idiopathic viral infection
MONDO:0018706	syndromic sensorineural deafness due to combined oxidative phosphorylation defect
MONDO:0018812	MSH3-related attenuated familial adenomatous polyposis
MONDO:0054836	parkinsonism-dystonia, infantile, 2
MONDO:0700042	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
MONDO:0957404	pyogenic autoinflammatory syndrome of childhood

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

Mondo ID	Label
MONDO:0019054	congenital limb malformation
MONDO:0019713	non-syndromic limb reduction defect
MONDO:0018240	TRPV4-related bone disorder
MONDO:0015338	syndromic craniosynostosis
MONDO:0015337	isolated craniosynostosis
MONDO:0018640	secondary vasculitis