monarch-initiative/mondo: 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 |