Releases · monarch-initiative/mondo

01 Dec 19:07

nicolevasilevsky

v2022-12-01

cec5675

v2022-12-01

Overview:

Number of new terms: 160
Number of changed labels: 29
Number of changed definitions: 25
Number obsoleted terms: 3
Number of new obsoletion candidates: 7
Number of terms who were previously candidate for obsoletion and are now not anymore: 11

New terms

Mondo ID	Label	Definition
MONDO:0029465	intellectual developmental disorder, autosomal dominant 69
MONDO:0030805	spinocerebellar ataxia 49
MONDO:0030957	developmental and epileptic encephalopathy 103
MONDO:0030958	dystonia 35, childhood-onset
MONDO:0030964	intellectual developmental disorder, autosomal dominant 67
MONDO:0030968	intellectual developmental disorder, autosomal recessive 76
MONDO:0030969	intellectual developmental disorder, autosomal dominant 68
MONDO:0030970	immunodeficiency 106, susceptibility to viral infections
MONDO:0030972	spermatogenic failure 74
MONDO:0030975	premature ovarian failure 20
MONDO:0030983	Waardenburg syndrome, IIa 2F
MONDO:0030984	spermatogenic failure 75
MONDO:0030993	Tessadori-Van Haaften neurodevelopmental syndrome 3
MONDO:0031000	Tessadori-Van Haaften neurodevelopmental syndrome 4
MONDO:0031019	spastic paraplegia 87, autosomal recessive
MONDO:0031021	developmental and epileptic encephalopathy 104
MONDO:0031028	developmental and epileptic encephalopathy 105 with hypopituitarism
MONDO:0031030	immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
MONDO:0031031	intellectual developmental disorder, autosomal recessive 77
MONDO:0031040	cholestasis, progressive familial intrahepatic, 12
MONDO:0031043	lymphatic malformation 12
MONDO:0031044	advance sleep phase syndrome, familial, 4
MONDO:0031045	arthrogryposis, distal, IIa 11
MONDO:0031047	stickler syndrome, IIa 6
MONDO:0031052	developmental and epileptic encephalopathy 106
MONDO:0031054	ciliary dyskinesia, primary, 48, without situs inversus
MONDO:0031055	developmental and epileptic encephalopathy 107
MONDO:0031057	dyskeratosis congenita, digenic
MONDO:0031060	microcephaly 29, primary, autosomal recessive
MONDO:0031061	nephrotic syndrome, IIa 26
MONDO:0031062	polycystic kidney disease 7
MONDO:0031068	charcot-marie-tooth disease, axonal,IIa 2II
MONDO:0031071	diamond-blackfan anemia 21
MONDO:0031077	spermatogenic failure 76
MONDO:0031083	spermatogenic failure 77
MONDO:0031084	amelogenesis imperfecta, IIa 1K
MONDO:0031166	macular dystrophy, retinal
MONDO:0031240	familial panic disorder
MONDO:0031323	cardiac valvular defect
MONDO:0031422	familial mucolipidosis
MONDO:0031520	familial severe combined immunodeficiency
MONDO:0031615	familial bent bone dysplasia syndrome
MONDO:0031646	Braddock-Carey syndrome
MONDO:0100049	narcolepsy, susceptibility to	An inherited susceptibility or predisposition to developing narcolepsy.
MONDO:0100098	dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disablity, and only minimal, if any, hyperphenylalaninemia.
MONDO:0100119	Knobloch syndrome 2
MONDO:0100122	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency	An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.
MONDO:0100123	toxic bronchiolitis	Bronchiolitis as a response to a toxic exposure.
MONDO:0100127	toxic bronchiolitis obliterans	Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.
MONDO:0100153	tubulinopathy	A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia in which the cause of the disease is a variation in one or more of the tubulin genes.
MONDO:0100154	TUBB3-related tubulinopathy	A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.
MONDO:0100155	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.
MONDO:0100159	pulmonary hypertension, neonatal	Abnormally high blood pressure in a newborn child.
MONDO:0100166	PPP2R1A-related intellectual disability	Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.
MONDO:0100168	desmoid tumor caused by somatic mutation
MONDO:0100169	polyneuropathy, inflammatory demyelinating, chronic
MONDO:0100170	restless legs syndrome, susceptibility to	An inherited susceptibility or predisposition to developing restless legs syndrome.
MONDO:0100171	psoriasis, susceptibility to	An inherited susceptibility or predisposition to developing psoriasis.
MONDO:0100173	leukemia, acute myeloid, susceptibility to	An inherited susceptibility or predisposition to developing leukemia, acute myeloid.
MONDO:0100174	age related macular degeneration, susceptibility to	An inherited susceptibility or predisposition to developing age related macular degeneration.
MONDO:0100177	allergic rhinitis, susceptibility to	An inherited susceptibility or predisposition to developing allergic rhinitis.
MONDO:0100178	dermatitis, atopic, susceptibility to	An inherited susceptibility or predisposition to developing atopic dermatitis.
MONDO:0100179	Hirschsprung disease, susceptibility to	An inherited susceptibility or predisposition to developing Hirschsprung disease.
MONDO:0100180	diabetes mellitus, ketosis-prone	An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.
MONDO:0100181	dermatitis, atopic, 1	An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.
MONDO:0100182	schizophrenia, susceptibility to	An inherited susceptibility or predisposition to developing schizophrenia.
MONDO:0100183	radioulnar synostosis, nonsyndromic, susceptibility to	A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.
MONDO:0100187	opioid-induced constipation	A constipation disorder caused by use of opiods. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.
MONDO:0100501	body-stalk anomaly	A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.
MONDO:0700115	proliferative vitreoretinopathy	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.
MONDO:0700116	microcephaly with lissencephaly and/or hydranencephaly	A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.
MONDO:0700117	SLC6A3-related dopamine transporter deficiency syndrome	A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.
MONDO:0700200	atypical dopamine transporter deficiency syndrome	A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder ...

Assets 21

01 Nov 19:15

sabrinatoro

v2022-11-01

f720d1b

v2022-11-01

Overview:

Number of new terms: 71
Number of changed labels: 0
Number of changed definitions: 3
Number obsoleted terms: 3
Number of new obsoletion candidates: 1
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100048	graft-versus-host disease, susceptibility to	An inherited susceptibility or predisposition to developing graft vs. host disease.
MONDO:0700112	heterotaxy, visceral, 5, autosomal	Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.
MONDO:0700131	sarcoma, non-human animal	Sarcoma that occurs in non-human animals.
MONDO:0700132	melanoma, non-human animal	Melanoma that occurs in non-human animals.
MONDO:0700133	adenoma, non-human	Adenoma that occurs in non-human animals.
MONDO:0700134	bovine neoplasm	A neoplasm that occurs in cattle.
MONDO:0700135	bovine leukemia	A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle
MONDO:0700136	bovine protoporphyria	A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.
MONDO:0700137	bovine lymphosarcoma	Lymphosarcoma that occurs in a cow.
MONDO:0700138	bovine rectal myxoma	A myxoma that occurs in the rectum of a cow.
MONDO:0700139	canine neoplasm	A neoplasm that occurs in dogs.
MONDO:0700140	canine osteosarcoma	An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.
MONDO:0700141	canine melanoma	Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.
MONDO:0700142	canine hemangiosarcoma	Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.
MONDO:0700143	canine mammary carcinoma	Mammary carcinoma occurring in a dog.
MONDO:0700144	canine leukemia	An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.
MONDO:0700145	canine lymphoma	A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.
MONDO:0700146	canine prostate carcinoma	A malignant epithelial neoplasm arising from the prostate gland of a dog.
MONDO:0700147	canine histiocytic sarcoma	A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
MONDO:0700148	canine transitional cell carcinoma	A malignant neoplasm that affects dogs, arising from transitional epithelium.
MONDO:0700149	canine sarcoma	A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.
MONDO:0700150	canine mastocytoma	A tumor composed of mast cells that occurs in dogs.
MONDO:0700151	canine glioma	A brain or spinal cord tumor arising from glial cells that occurs in dogs.
MONDO:0700152	canine hepatocellular carcinoma	A malignant tumor arising from hepatocytes that occurs in dogs.
MONDO:0700153	canine lung adenocarcinoma	A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.
MONDO:0700154	canine rhabdomyosarcoma	A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.
MONDO:0700155	canine thyroid adenocarcinoma	Adeonocarcinoma of the thyroid gland occurring in a dog.
MONDO:0700156	canine soft tissue sarcoma	Soft tissue sarcoma occurring in a dog.
MONDO:0700157	canine oral squamous cell carcinoma	Oral squamous cell carcinoma that occurs in a dog.
MONDO:0700158	canine pancreatic carcinoma	Pancreatic carcinoma that occurs in a dog.
MONDO:0700159	canine acanthomatous epulis	A tumor arising from odontogenic epithelium and occurs in a dog.
MONDO:0700160	canine mammary adenoma	An adenoma arising from the mammary gland of a dog.
MONDO:0700161	canine gastrointestinal stromal tumor	A gastrointestinal stromal tumor occurring in a dog.
MONDO:0700162	canine granular cell tumor	A granular cell tumor occurring in a dog.
MONDO:0700163	canine Langerhans cell histiocytosis	Langerhans cell histiocytosis occurring in a dog.
MONDO:0700164	canine nephroblastoma	A nephroblastoma occurring in a dog.
MONDO:0700165	canine thyroid gland medullary carcinoma	Thyroid gland medullary carcinoma occurring in a dog.
MONDO:0700166	canine transmissible venereal tumor	A sexually transmitted tumor arising from histiocytes and occurring in dogs.
MONDO:0700167	canine sebaceous gland epithelioma	Sebaceous epithelioma occurring in a dog.
MONDO:0700168	canine oral melanoma	A melanoma that affects the lip and/or oral cavity of a dog.
MONDO:0700169	canine cutaneous t-cell lymphoma	Cutaneous T-cell lymphoma occurring in a dog.
MONDO:0700170	equine neoplasm	Neoplasm that occurs in a horse.
MONDO:0700171	horse melanoma	Melanoma that occurs in a horse.
MONDO:0700172	horse lymphoma	Lymphoma that occurs in a horse.
MONDO:0700173	horse sarcoid	A fibroblastic tumor that occurs in the skin of a horse.
MONDO:0700174	horse transitional cell carcinoma	Transitional cell carcinoma that occurs in a horse.
MONDO:0700175	feline neoplasm	Neoplasm that occurs in a cat.
MONDO:0700176	feline lymphoma	A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.
MONDO:0700177	feline mammary carcinoma	Mammary carcinoma occurring in a cat.
MONDO:0700178	feline oral squamous cell carcinoma	Oral squamous cell carcinoma that occurs in a cat.
MONDO:0700179	feline osteosarcoma	Osteosarcoma that occurs in a cat.
MONDO:0700180	feline bronchioloalveolar lung carcinoma	Bronchioloalveolar lung carcinoma that occurs in a cat.
MONDO:0700181	feline fibrosarcoma	Fibrosarcoma that occurs in a cat.
MONDO:0700182	feline erythroleukemia	Erythroleukemia that occurs in a cat.
MONDO:0700183	feline reticulum cell sarcoma	Reticulum cell sarcoma that occurs in a cat.
MONDO:0700184	feline large granular lymphocyte lymphoma	A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.
MONDO:0700185	feline melanoma	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.
MONDO:0700186	feline histiocytic sarcoma	Histiocytic sarcoma occurring in a cat.
MONDO:0700187	feline progressive histiocytosis	A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.
MONDO:0700188	feline synovial cell sarcoma	Synovial cell sarcoma occurring in a cat.
MONDO:0700189	chicken neoplasm	A neoplasm that occurs in a chicken.
MONDO:0700190	chicken bursal lymphoma	A malignant lymphoma that arises in the bursa of Fabricius in a chicken.
MONDO:0700191	chicken fibrosarcoma	Fibrosarcoma that occurs in a chicken.
MONDO:0700192	chicken hepatoma	Hepatoma that occurs in a chicken.
MONDO:0700193	chicken monocytic leukemia	Monocytic leukemia that occurs in a chicken.
MONDO:0700194	chicken lymphoma	Lymphoma that occurs in a chicken.
MONDO:0700195	rous sarcoma	A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family
MONDO:0700196	fish melanoma	Melanoma that occurs in a fish.
MONDO:0700197	porcine leukemia	Leukemia that occurs in a pig.
MONDO:0700198	porcine lymphoma	Lymphoma that occurs in a pig.
MONDO:0700199	sheep lung adenocarcinoma	Adenocarcinoma arising from the lung of a sheep.

Changed terms

No changed labels.

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0009821	lethal osteosclerotic bone dysplasia	Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.	Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
MONDO:0013730	graft versus host disease	Acute graft-versus-host disease ...

Assets 21

11 Oct 17:40

nicolevasilevsky

v2022-10-11

cba99c1

v2022-10-11

Overview:

Number of new terms: 38
Number of changed labels: 4
Number of changed definitions: 69
Number obsoleted terms: 6
Number of new obsoletion candidates: 3
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100043	epidermodysplasia verruciformis, susceptibility to
MONDO:0100045	epidermodysplasia verruciformis, susceptibility to, 1
MONDO:0100046	exfoliation syndrome, susceptibility to	An inherited susceptibility or predisposition to developing exfoliation syndrome.
MONDO:0100047	basal cell carcinoma, susceptibility to	An inherited susceptibility or predisposition to developing basal cell carcinoma.
MONDO:0800109	persistent tachypnoe of infancy	A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.
MONDO:0800110	persistent tachypnoe of infancy, aberrant	Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).
MONDO:0800111	persistent tachypnoe of infancy, usual	Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).
MONDO:0800112	non-atopic asthma	A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.
MONDO:0800113	necrotizing vasculitis	A type of vasculitis that is comprised of vasculitides that present with necrosis.
MONDO:0800114	follicular bronchiolits	A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.
MONDO:0800117	cutaneous botryomycosis	A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).
MONDO:0800118	visceral botryomycosis	A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.
MONDO:0800119	postinfectious bronchiolitis obliterans	An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.
MONDO:0800120	Mac-Leod-Swyer-James-Syndrome	A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.
MONDO:0800121	cellular interstitial pneumonitis	An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.
MONDO:0800123	bronchiolocentric pattern of interstitial pneumonia	An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.
MONDO:0800124	Lane Hamilton syndrome	A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.
MONDO:0800125	disseminated visceral giant cell angiitis	A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.
MONDO:0800126	dystrophic pulmonary ossification	A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.
MONDO:0800127	pulmonary amyloidosis	A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.
MONDO:0800128	combined immunodeficiency due to POLE2 deficiency	Any combined immunodeficiency due to a deficiency in the POLE2 gene.
MONDO:0800129	autoinflammatory disease, X-linked	An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.
MONDO:0800130	autoinflammatory syndrome with immunodeficiency	An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.
MONDO:0800131	hyper-IgE recurrent infection syndrome 4A, autosomal dominant	An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.
MONDO:0800132	autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.
MONDO:0800133	pulmonary hypoplasia	A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.
MONDO:0800174	encephalitis, acute, infection-induced, susceptibility to	An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.
MONDO:0800175	cardiogenic shock	A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea,...

Assets 21

03 Oct 17:31

nicolevasilevsky

v2022-10-03

62c478c

v2022-10-03

Overview:

Number of new terms: 34
Number of changed labels: 47
Number of changed definitions: 7
Number obsoleted terms: 10
Number of new obsoletion candidates: 4
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100478	brain malformations with or without urinary tract defects	A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
MONDO:0100500	Mendelian neurodevelopmental disorder	A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.
MONDO:0700096	human disease or disorder
MONDO:0700098	neoplasm, non-human animal
MONDO:0700099	adenocarcinoma, non-human animal
MONDO:0700100	leukemia, non-human animal
MONDO:0700101	carcinoma, non-human animal
MONDO:0700102	lymphoma, non-human animal
MONDO:0700103	nutritional deficiency disease, non-human animal
MONDO:0700104	respiratory system disorder, non-human animal
MONDO:0700105	difference of sexual differentiation, non-human animal
MONDO:0700106	immune system disorder, non-human animal
MONDO:0700108	prion disease, non-human animal
MONDO:0700109	skin disease caused by bacterial infection, non-human animal
MONDO:0700110	pneumonia, non-human animal
MONDO:0700111	bacterial pneumonia, non-human animal
MONDO:0800103	COACH syndrome 1	Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
MONDO:0800134	primary immunodeficiency due to calcium channel deficiency	An immunodeficiency disease caused by a variation in the CRACR2A gene.
MONDO:0800135	congenital emphysematous lung disease due to Filamin A loss-of-function variant	Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
MONDO:0800136	non-severe combined immunodeficiency due to COPG1 deficiency	Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.
MONDO:0800137	early-onset pulmonary and cutaneous vasculitis	A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.
MONDO:0800138	multisystem autoimmune disease due to IKAROS gain of function	An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.
MONDO:0800139	HELIOS deficiency	A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.
MONDO:0800140	ITPKB deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.
MONDO:0800141	MAN2B2 deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.
MONDO:0800142	chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency	An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).
MONDO:0800143	cytomegalovirus pneumonia due to NOS2 deficiency	Cytomegalovirus pneumonia due to variant in the NOS2 gene.
MONDO:0800144	autoimmune pulmonary disease due to PD-1 deficiency	An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.
MONDO:0800145	non-severe combined immunodeficiency due to polymerase delta deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.
MONDO:0800146	agammaglobulinemia, autosomal recessive, due to BOB1 deficiency	Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.
MONDO:0800147	hemophagocytic lymphohistiocytosis due to RhoG deficiency	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.
MONDO:0800148	autoinflammatory syndrome due to TBK1 deficiency	Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.
MONDO:0800149	immunodeficiency, common variable, due to APRIL deficiency	Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.
MONDO:0810000	choroidal neovascularization	An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.

Changed terms

Changed labels

Assets 21

06 Sep 22:31

nicolevasilevsky

v2022-09-06

94fd4bb

v2022-09-06

Overview:

Number of new terms: 19
Number of changed labels: 15
Number of changed definitions: 70
Number obsoleted terms: 42
Number of new obsoletion candidates: 5
Number of terms who were previously candidate for obsoletion and are now not anymore: 43

New terms

Mondo ID	Label	Definition
MONDO:0100434	chronic mountain sickness	A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.
MONDO:0100440	Asperger syndrome, susceptibility to	An inherited susceptibility or predisposition to developing Asperger sydrome.
MONDO:0100473	disorder of peptide and amine metabolism	An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.
MONDO:0100477	disorder of methylamine metabolism	An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.
MONDO:0100509	IFT140-related recessive ciliopathy	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
MONDO:0100510	spondyloepimetaphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
MONDO:0100514	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.
MONDO:0100515	mirror movements 1 and/or agenesis of the corpus callosum	A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).
MONDO:0100516	complex neurodevelopmental disorder with motor features	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.
MONDO:0800107	anterior deviation infundibular septum
MONDO:0800108	cleft leaflet of tricuspid valve
MONDO:0800152	disorder of galactose and fructose metabolism	An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.
MONDO:0800153	urea cycle disorder or inherited hyperammonemia	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle and/or there is an inherited increased concentration of ammonia in the blood.
MONDO:0800154	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.
MONDO:0800155	inborn disorder of glycine and serine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.
MONDO:0800156	inborn disorder of ornithine, proline and hydroxyproline metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.
MONDO:0800157	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.
MONDO:0800158	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.
MONDO:0800159	disorder of polyamine metabolism	An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.

Changed terms

Changed labels

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000155	triglyceride storage disease	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.
MONDO:0019226	glucose transport disorder	An acquired metabolic disease that is has its basis in the disruption of glucose transport.	An inherited metabolic disease that is has its basis in the disruption of glucose transport.
MONDO:0000273	Kunjin virus infectous disease		A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.
MONDO:0000351	disorder of methionine catabolism	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.	An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
MONDO:0037938	inborn disorder of aspartate family metabolism	An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.
MONDO:0000421	inborn serine deficiency	An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.
MONDO:0019239	inborn disorder of serine family metabolism	An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.
MONDO:0005528	inborn vitamin metabolic disorder	An acquired metaboli...

Assets 21

01 Aug 17:58

sabrinatoro

v2022-08-01

cc03760

v2022-08-01

Overview:

Number of new terms: 19
Number of changed labels: 6
Number of changed definitions: 35
Number obsoleted terms: 34
Number of new obsoletion candidates: 34
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0030827	macrothrombocytopenia, isolated, 2, autosomal dominant
MONDO:0030839	thyroid hormone metabolism, abnormal, 2
MONDO:0031432	thyroid hormone metabolism, abnormal
MONDO:0031447	macrothrombocytopenia, isolated
MONDO:0100498	UROD-related inherited porphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.
MONDO:0100502	NTHL1-deficiency tumor predisposition syndrome	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
MONDO:0100503	DPH5-related diphthamide-deficiency syndrome	A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.
MONDO:0100504	fungal infection of the toenail	A fungal infectious disease that involves the toenail.
MONDO:0100505	food dermatitis	Dermatitis caused by an allergic reaction to ingested food.
MONDO:0100506	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.
MONDO:0700082	Robertsonian translocation Down syndrome	Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.
MONDO:0700083	reciprocal translocation down syndrome	Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.
MONDO:0700093	balanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0700094	unbalanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0800046	thyroid hormone metabolism, abnormal 1	A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
MONDO:0800047	macrothrombocytopenia, isolated, 1, autosomal dominant	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
MONDO:0800104	immunodeficiency 105	Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
MONDO:0800105	catatonia	A psychiatric disorder featuring stupor, posturing, and echophenomena.
MONDO:0800106	disruptive behavior disorder	A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007962	megalodactyly	Megalodactyly	megalodactyly
MONDO:0008075	schwannomatosis	neurofibromatosis type 3	schwannomatosis
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	X-linked intellectual disability-hypotonic face syndrome	intellectual disability-hypotonic facies syndrome, X-linked, 1
MONDO:0012163	immunodeficiency 104	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	immunodeficiency 104
MONDO:0013784	neonatal-onset encephalopathy with rigidity and seizures	lethal neonatal spasticity-epileptic encephalopathy syndrome	neonatal-onset encephalopathy with rigidity and seizures
MONDO:0700130	partial segmental duplication	partial trisomy 21	partial segmental duplication

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0004598	acute cor pulmonale	Acute form of cor pulmonale.	A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.
MONDO:0017666	diffuse palmoplantar keratoderma		Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.
MONDO:0007113	Angelman syndrome	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
MONDO:0007168	atelosteogenesis type III	Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
MONDO:0016524	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood	An alteration in limb growth caused by congenital vascular malformations in childhood.
MONDO:0019270	erythrokeratoderma		An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.
MONDO:0008608	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
MONDO:0008075	schwannomatosis	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
MONDO:0015104	porphyria cutanea tarda	Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.
MONDO:0008756	alopecia - intellectual disability syndrome	Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures,...

Assets 21

01 Jul 20:17

nicolevasilevsky

v2022-07-01

e8b9f65

v2022-07-01

Overview:

Number of new terms: 100
Number of changed labels: 17
Number of changed definitions: 55
Number obsoleted terms: 15
Number of new obsoletion candidates: 120
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0024770	autoinflammatory syndrome, familial, X-linked, Behcet-like 2
MONDO:0024781	immunodeficiency 102
MONDO:0027652	5-fluorouracil toxicity
MONDO:0027653	abacavir toxicity
MONDO:0027655	allopurinol toxicity
MONDO:0027664	cisplatin toxicity
MONDO:0027666	codeine toxicity
MONDO:0027667	efavirenz toxicity
MONDO:0027668	flucloxacilline toxicity
MONDO:0027675	irinotecan toxicity
MONDO:0027677	isoniazid toxicity
MONDO:0027687	raltegravir toxicity
MONDO:0027696	voriconazole toxicity
MONDO:0030756	Stuve-Wiedemann syndrome 2
MONDO:0030770	congenital disorder of deglycosylation 2
MONDO:0030781	restrictive dermopathy 2
MONDO:0030881	developmental and epileptic encephalopathy 102
MONDO:0030886	holoprosencephaly 14
MONDO:0030887	cardiomyopathy, dilated, 2G
MONDO:0030890	pontocerebellar hypoplasia, IIA 17
MONDO:0030891	intellectual developmental disorder, autosomal dominant 66
MONDO:0031213	restrictive dermopathy
MONDO:0031257	high altitude pulmonary edema	A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.
MONDO:0031280	Stuve-Wiedemann syndrome
MONDO:0031376	congenital disorder of deglycosylation
MONDO:0031384	autoinflammatory syndrome, familial, Behcet-like
MONDO:0033169	curariform drugs toxicity
MONDO:0033170	statin toxicity
MONDO:0033181	phenytoin or carbamazepine toxicity
MONDO:0033938	acute radiation syndrome
MONDO:0034989	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.
MONDO:0034991	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.
MONDO:0035337	Duane retraction syndrome with congenital deafness	A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.
MONDO:0035344	acute bilirubin encephalopathy	A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
MONDO:0035345	chronic bilirubin encephalopathy	A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.
MONDO:0035350	letrozole toxicity
MONDO:0035763	idiopathic non-lupus full-house nephropathy
MONDO:0035764	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
MONDO:0035777	parenteral nutrition-associated cholestasis	A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
MONDO:0035838	idiopathic multicentric Castleman disease
MONDO:0035875	ivermectin toxicity
MONDO:0035876	belinostat toxicity or dose selection
MONDO:0035930	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
MONDO:0035940	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
MONDO:0035941	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
MONDO:0035942	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
MONDO:0035943	B-lymphoblastic leukemia/lymphoma with hyperdiploidy
MONDO:0035944	B-lymphoblastic leukemia/lymphoma with hypodiploidy
MONDO:0035945	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
MONDO:0036025	toxicity to dolutegravir
MONDO:0036042	KAT6B-related multiple congenital anomalies syndrome
MONDO:0036045	euthyroid dysprealbuminemic hyperthyroxinemia
MONDO:0036189	oculogastrointestinal-neurodevelopmental syndrome
MONDO:0036192	EN1-related dorsoventral syndrome
MONDO:0036193	parkinsonism with polyneuropathy
MONDO:0036212	spastic paraparesis-cataracts-speech delay syndrome
MONDO:0036217	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
MONDO:0036218	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
MONDO:0037149	HSD10 disease, atypical type
MONDO:0037398	pneumonia caused by pseudomonas aeruginosa infection	A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.
MONDO:0100464	acid sphingomyelinase deficiency	An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.
MONDO:0100465	complex neurodevelopmental disorder with or without congenital anomalies	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.
MONDO:0100492	Bonnevie-Ullrich syndrome	A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbin...

Assets 21

01 Jun 17:43

sabrinatoro

v2022-06-01

df68594

v2022-06-01

Overview:

Number of new terms: 29
Number of changed labels: 4
Number of changed definitions: 22
Number obsoleted terms: 16
Number of new obsoletion candidates: 19
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0024771	myopathy, distal, 7, adult-onset, X-linked
MONDO:0024777	immunodeficiency 98 with autoinflammation, X-linked
MONDO:0030619	retinitis pigmentosa 92
MONDO:0030669	gastrointestinal defects and immunodeficiency syndrome 2
MONDO:0030729	Tessadori-van Haaften neurodevelopmental syndrome 1
MONDO:0030730	Tessadori-van Haaften neurodevelopmental syndrome 2
MONDO:0030746	epidermolysis bullosa, junctional 2A, intermediate
MONDO:0030747	epidermolysis bullosa, junctional 2B, severe
MONDO:0030748	epidermolysis bullosa, junctional 3A, intermediate
MONDO:0030749	epidermolysis bullosa, junctional 3B, severe
MONDO:0030750	epidermolysis bullosa, junctional 4, intermediate
MONDO:0030768	epidermolysis bullosa, junctional 5A, intermediate
MONDO:0030785	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
MONDO:0030787	spermatogenic failure 71
MONDO:0030797	retinitis pigmentosa 93
MONDO:0030798	immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MONDO:0030800	cholestasis, progressive familial intrahepatic, 9
MONDO:0030809	spermatogenic failure 72
MONDO:0030810	cholestasis, progressive familial intrahepatic, 10
MONDO:0030813	immunodeficiency 101 (varicella zoster virus-specific)
MONDO:0030815	cholestasis, progressive familial intrahepatic, 11
MONDO:0030818	spermatogenic failure 73
MONDO:0030819	meckel syndrome 14
MONDO:0030822	renal hypodysplasia/aplasia 4
MONDO:0100460	tobacco addiction, susceptibility to	An inherited susceptibility or predisposition to developing nicotine dependence.
MONDO:0100463	methylmalonic aciduria and/or homocystinuria, cblD type	An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.
MONDO:0700073	glutaric acidemia IIa	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.
MONDO:0700074	glutaric acidemia IIb	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.
MONDO:0700076	glutaric acidemia IIc	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007818	hyper-IgE recurrent infection syndrome 1	Hyper-IgE recurrent infection syndrome 1	hyper-IgE recurrent infection syndrome 1
MONDO:0008675	Freeman-Sheldon syndrome	freeman-Sheldon syndrome	Freeman-Sheldon syndrome
MONDO:0014977	autosomal recessive limb-girdle muscular dystrophy type 2R1	autosomal recessive limb-girdle muscular dystrophy type 2Z	autosomal recessive limb-girdle muscular dystrophy type 2R1
MONDO:0044640	Charcot-Marie-Tooth disease type 2T	charcot-marie-tooth disease type 2T	Charcot-Marie-Tooth disease type 2T

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000188	GLUT1 deficiency syndrome		An epileptic encephalopathy resulting from impaired glucose transport into the brain.
MONDO:0002279	iron metabolism disease	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.
MONDO:0001793	excessive tearing	Diseases of the lacrimal apparatus.	Profuse lacrimation.
MONDO:0016085	Cole-Carpenter syndrome	Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
MONDO:0007252	Gordon syndrome	Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
MONDO:0019162	pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
MONDO:0007827	inclusion body myositis	Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.
MONDO:0016797	multiple mitochondrial DNA deletion syndrome		A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.
MONDO:0018975	neurofibromatosis type 1	Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
MONDO:0019027	otopalatodigital syndrome	Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
MONDO:0010704	otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
MONDO:0019037	progressive supranuclear palsy	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by...

Assets 21

02 May 18:11

nicolevasilevsky

v2022-05-02

f1c6be8

v2022-05-02

Overview:

Number of new terms: 391
Number of changed labels: 24
Number of changed definitions: 13
Number obsoleted terms: 47
Number of new obsoletion candidates: 35
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0000140	obsolete MONDO:0000140
MONDO:0000528	obsolete MONDO:0000528
MONDO:0000529	obsolete MONDO:0000529
MONDO:0000559	obsolete MONDO:0000559
MONDO:0000575	obsolete MONDO:0000575
MONDO:0000817	obsolete MONDO:0000817
MONDO:0000821	obsolete MONDO:0000821
MONDO:0000823	obsolete MONDO:0000823
MONDO:0000842	obsolete MONDO:0000842
MONDO:0000843	obsolete MONDO:0000843
MONDO:0000915	obsolete MONDO:0000915
MONDO:0001201	obsolete MONDO:0001201
MONDO:0001605	obsolete MONDO:0001605
MONDO:0001659	obsolete MONDO:0001659
MONDO:0002733	obsolete MONDO:0002733
MONDO:0002773	obsolete MONDO:0002773
MONDO:0002780	obsolete MONDO:0002780
MONDO:0003323	obsolete MONDO:0003323
MONDO:0003576	obsolete MONDO:0003576
MONDO:0003597	obsolete MONDO:0003597
MONDO:0003625	obsolete MONDO:0003625
MONDO:0003986	obsolete MONDO:0003986
MONDO:0004036	obsolete MONDO:0004036
MONDO:0004137	obsolete MONDO:0004137
MONDO:0004347	obsolete MONDO:0004347
MONDO:0004915	obsolete MONDO:0004915
MONDO:0004916	obsolete MONDO:0004916
MONDO:0005274	obsolete MONDO:0005274
MONDO:0005332	obsolete MONDO:0005332
MONDO:0005681	obsolete MONDO:0005681
MONDO:0005713	obsolete MONDO:0005713
MONDO:0005860	obsolete MONDO:0005860
MONDO:0006023	obsolete MONDO:0006023
MONDO:0006707	obsolete MONDO:0006707
MONDO:0006885	obsolete MONDO:0006885
MONDO:0014188	obsolete MONDO:0014188
MONDO:0014913	obsolete MONDO:0014913
MONDO:0020758	obsolete MONDO:0020758
MONDO:0021307	obsolete MONDO:0021307
MONDO:0021690	obsolete congenital left ventricular aneurysm	OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]
MONDO:0023539	obsolete MONDO:0023539
MONDO:0024145	obsolete Pierre Robin syndrome associated with collagen disease
MONDO:0024147	obsolete Pierre Robin syndrome associated with a chromosomal anomaly
MONDO:0024148	obsolete Pierre Robin syndrome associated with branchial archs anomalies
MONDO:0024149	obsolete Pierre Robin syndrome associated with bone disease
MONDO:0024581	obsolete MONDO:0024581
MONDO:0024772	intellectual developmental disorder, X-linked, syndromic, Pilorge type
MONDO:0024773	spermatogenic failure, x-linked, 4
MONDO:0024812	obsolete MONDO:0024812
MONDO:0024987	obsolete genetic urogenital tract malformation
MONDO:0026141	obsolete genetic urticaria
MONDO:0026150	obsolete genetic erythrokeratoderma
MONDO:0026151	obsolete genetic acrokeratoderma
MONDO:0026152	obsolete genetic porokeratosis
MONDO:0026157	obsolete genetic pigmentation anomaly of the skin
MONDO:0026160	obsolete genetic dermis disorder
MONDO:0026166	obsolete genetic immune deficiency with skin involvement
MONDO:0026167	obsolete genetic neuromuscular disease
MONDO:0026170	obsolete genetic central nervous system malformation
MONDO:0026173	obsolete rare genetic medullar disease
MONDO:0026180	obsolete genetic congenital limb malformation
MONDO:0026181	obsolete genetic renal or urinary tract malformation
MONDO:0026182	obsolete genetic cranial malformation
MONDO:0026183	obsolete genetic digestive tract malformation
MONDO:0026184	obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0026185	obsolete genetic respiratory or mediastinal malformation
MONDO:0026186	obsolete genetic developmental defect of the eye
MONDO:0026187	obsolete genetic malformation syndrome with short stature
MONDO:0026188	obsolete genetic overgrowth/obesity syndrome
MONDO:0026189	obsolete genetic branchial arch or oral-acral syndrome
MONDO:0026190	obsolete genetic malformation syndrome with odontal and/or periodontal component
MONDO:0026192	obsolete genetic glomerular disease
MONDO:0026193	obsolete genetic thrombotic microangiopathy
MONDO:0026203	obsolete genetic respiratory malformation
MONDO:0026209	obsolete genetic polyendocrinopathy
MONDO:0026419	obsolete isolated corpus callosum agenesis	OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]
MONDO:0026989	obsolete syndrome associated with hypertrophic cardiomyopathy
MONDO:0027929	obsolete genetic polycythemia
MONDO:0028569	obsolete genetic interstitial lung disease
MONDO:0028795	obsolete rare genetic systemic or rheumatologic disease
MONDO:0028868	obsolete genetic frontotemporal degeneration with dementia
MONDO:0029014	obsolete rare systemic or rheumatological disease of childhood
MONDO:0029051	obsolete autosomal recessive nail dysplasia	OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]
MONDO:0029102	obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0029810	obsolete laminopathy with striated muscle involvement
MONDO:0029811	obsolete laminopathy with peripheral neuropathy
MONDO:0029812	obsolete laminopathy with lipodystrophy
MONDO:0029813	obsolete laminopathy with premature aging
MONDO:0030016	obsolete MONDO:0030016
MONDO:0030052	obsolete disease with punctate palmoplantar keratoderma as a major feature
MONDO:0030407	obsolete rare disease with Cushing syndrome as a major feature
MONDO:0030537	central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
MONDO:0030539	central hypoventilation syndrome, congenital, 3
MONDO:0030549	hearing loss, autosomal dominant 81
MONDO:0030608	interstitial lung disease 1
MONDO:0030625	dyskinesia with orofacial involvement, autosomal recessive
MONDO:0030634	leukoencephalopathy, hereditary diffuse, with spheroids 2
MONDO:0030639	Teebi hypertelorism syndrome
MONDO:0030673	spastic paraplegia 86, autosomal recessive
MONDO:0030674	Teebi hypertelorism syndrome 2
MONDO:0030676	parkinsonism-dystonia 3, childhood-onset
MONDO:0030677	Charcot-Marie-Tooth disease, demyelinating, IIA 1I
MONDO:0030679	Noonan syndrome 14
MONDO:0030680	cardiomyopathy, dilated, 2F
MONDO:0030681	immunodeficiency 94 with autoinflammation and dysmorphic facies
MONDO:0030684	hypogonadotropic hypogonadism 27 without anosmia
MONDO:0030689	Charcot-Marie-Tooth disease, demyelinating, IIA 1H
MONDO:0030690	pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
MONDO:0030692	immunodeficiency 95
MONDO:0030693	immunodeficiency 96
MONDO:0030695	developmental and epileptic encephalopathy 100
MONDO:0030696	mitochondrial DNA depletion syndrome 20 (mngie type)
MONDO:0030697	myopia 28, autosomal recessive
MONDO:0030711	anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive
MONDO:0030712	oculopharyngodistal myopathy 4
MONDO:0030714	osteogenesis imperfecta, IIA 22
MONDO:0030716	spermatogenic failure 66
MONDO:0030717	immunodeficiency 97 with autoinflammation
MONDO:0030718	spermatogenic failure 67
MONDO:0030719	deafness, autosomal dominant 82
MONDO:0030721	spermatogenic failure 68
MONDO:0030723	hearing loss, autosomal dominant 83
MONDO:0030724	hearing loss, autosomal dominant 84
MONDO:0030726	neutropenia, severe congenital, 9, autosomal dominant
MONDO:0030727	developmental and epileptic encephalopathy 101
MONDO:0030731	aortic aneurysm, familial thoracic 12
MONDO:0030732	spermatogenic failure 69
MONDO:0030733	spermatogenic failure 70
MONDO:0030736	ovarian dysgenesis 10
MONDO:0030767	obsolete genetic tumor of hematopoietic and lymphoid tissues
MONDO:0030796	leukoencephalopathy, hereditary diffus...

Assets 21

04 Apr 18:21

sabrinatoro

v2022-04-04

14cbc59

v2022-04-04

Overview:

Number of new terms: 13
Number of changed labels: 8
Number of changed definitions: 4
Number obsoleted terms: 73
Number of new obsoletion candidates: 16
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100487	TPM4-related platelet disorder	A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.
MONDO:0100488	CDH1-related diffuse gastric and lobular breast cancer	Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.
MONDO:0100489	Graves disease, susceptibility to, 1
MONDO:0100490	breasts and/or nipples, aplasia or hypoplasia of, 1
MONDO:0100491	generalized pustular psoriasis	A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.
MONDO:0700043	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
MONDO:8000023	type 3 autoimmune lymphoproliferative syndrome	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
MONDO:8000024	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
MONDO:8000030	obsolete morphological anomaly
MONDO:8000031	obsolete subtype of a disorder
MONDO:8000032	obsolete malformation syndrome
MONDO:8000033	obsolete group of disorders
MONDO:8000034	obsolete disorder

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0003778	inborn errors of immunity	primary immunodeficiency disease	inborn errors of immunity
MONDO:0008791	anencephaly 1	isolated anencephaly/exencephaly	anencephaly 1
MONDO:0013612	geleophysic dysplasia 2	Geleophysic dysplasia 2	geleophysic dysplasia 2
MONDO:0014320	Bosch-Boonstra-Schaaf optic atrophy syndrome	optic atrophy-intellectual disability syndrome	Bosch-Boonstra-Schaaf optic atrophy syndrome
MONDO:0018983	Tolosa-Hunt syndrome	tolosa-Hunt syndrome	Tolosa-Hunt syndrome
MONDO:0020745	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	autosomal dominant cardiac arrhythmia (Kuhn)	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
MONDO:0043195	Rubinstein Taybi like syndrome	rubinstein taybi like syndrome	Rubinstein Taybi like syndrome
MONDO:0700130	partial trisomy 21	partial Trisomy 21	partial trisomy 21

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0006086	angiomyxoma	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma.	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.
MONDO:0700085	pentasomy	A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.	A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.
MONDO:0017388	celiac trunk compression syndrome		A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
MONDO:0030502	tetrasomy	A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.	A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.

Obsolete terms

Mondo ID	Label
MONDO:0000651	obsolete thoracic disorder
MONDO:0006588	obsolete nonepidermolytic palmoplantar keratoderma
MONDO:0007139	obsolete Antipyrine metabolism
MONDO:0007141	obsolete antiviral state repressor, regulator of
MONDO:0007317	obsolete chlorpropamide-alcohol flushing
MONDO:0007331	obsolete cleft chin
MONDO:0007532	obsolete Electroencephalographic peculiarity: occipital slow beta waves
MONDO:0007591	obsolete facial hypertrichosis
MONDO:0007622	obsolete flood factor deficiency
MONDO:0007645	obsolete gastric sneezing
MONDO:0007692	obsolete hairy ears
MONDO:0007822	obsolete incisors, long upper central
MONDO:0007823	obsolete insulin receptors, familial increase 1N
MONDO:0008068	obsolete navicular bone, accessory
MONDO:0008110	obsolete ocular dominance
MONDO:0008326	obsolete pseudocholinesterase, increase in plasma level of
MONDO:0008351	obsolete pupil, egg-shaped
MONDO:0008405	obsolete scapula, contour of vertebral border of
MONDO:0008432	obsolete ketone compounds, ability to smell
MONDO:0008548	obsolete theophylline Biotransformation
MONDO:0008616	obsolete twinning due to superfetation
MONDO:0008625	obsolete urate-binding globulin, decrease 1N
MONDO:0008677	obsolete widow's peak
MONDO:0009125	obsolete dopamine beta-hydroxylase, plasma, thermolability of
MONDO:0009250	obsolete fructose utilization
MONDO:0009553	obsolete Plasmodium falciparum blood infection level
MONDO:0009829	obsolete pallidal degeneration, progressive, with retinitis pigmentosa
MONDO:0009930	obsolete pulmonary arteriovenous malformation
MONDO:0010705	obsolete ouabain resistance
MONDO:0010994	obsolete micromelic dwarfism, Fryns type
MONDO:0011554	obsolete deafness, nonsyndromic, modifier 1
MONDO:0011692	obsolete basal ganglia calcification, idiopathic, 2
MONDO:0013538	obsolete alpha-2-macroglobulin deficiency
MONDO:0013586	obsolete Chitotriosidase deficiency
MONDO:0013799	obsolete efavirenz, poor metabolism of
MONDO:0014053	obsolete stomatin-like protein-2, hyperphosphorylation of
MONDO:0014253	obsolete autoimmune lymphoproliferative syndrome type 3
MONDO:0014826	obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency
MONDO:0015153	obsolete autosomal monosomy
MONDO:0016946	obsolete partial trisomy of the short arm of chromosome 9
MONDO:0016962	obsolete partial duplication of the long arm of chromosome 11
MONDO:0016963	obsolete partial duplication of the long arm of chromosome 13
MONDO:0016998	obsolete complex chromosomal rearrangement
MONDO:0016999	obsolete X chromosome number anomaly
MONDO:0017002	obsolete polysomy of X chromosome
MONDO:0017005	obsolete Y chromosome number anomaly
MONDO:0017006	obsolete X and Y chromosomal anomaly
MONDO:0017011	obsolete uniparental disomy of chromosome X
MONDO:0017412	obsolete 2q31.1 microduplication syndrome
MONDO:0018186	obsolete ring chromosome
MONDO:0019683	obsolete syndactyly type 2
MONDO:0020050	obsolete autosomal trisomy
MONDO:0020053	obsolete total autosomal monosomy
MONDO:0020054	obsolete partial autosomal monosomy
MONDO:0020055	obsolete autosomal uniparental disomy
MONDO:0020056	obsolete uniparental disomy of maternal origin
MONDO:0020057	obsolete uniparental disomy of paternal origin
MONDO:0020059	obsolete gonosome number anomaly
MONDO:0020060	obsolete gonosome structural anomaly
MONDO:0020061	obsolete chromosome Y structural anomaly
MONDO:0020062	obsolete chromosome X structural anomaly
MONDO:0020734	obsolete erythrocyte AMP deaminase deficiency
MONDO:0021059	obsolete head or neck disorder/disorder
MONDO:0022109	obsolete catatrichy
MONDO:0022794	obso...

Assets 21

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Obsolete terms

Mondo ID	Label	Previous release	New release
MONDO:0001571	gynecomastia disorder	gynecomastia	gynecomastia disorder
MONDO:0002145	disorder of sexual differentiation	difference of sexual differentiation	disorder of sexual differentiation
MONDO:0005272	myelodysplastic syndrome with single lineage dysplasia	refractory anemia	myelodysplastic syndrome with single lineage dysplasia
MONDO:0019453	myelodysplastic syndrome with multilineage dysplasia	refractory cytopenia with multilineage dysplasia	myelodysplastic syndrome with multilineage dysplasia
MONDO:0007925	myelodysplastic syndrome associated with isolated del(5q)	chromosome 5q deletion syndrome	myelodysplastic syndrome associated with isolated del(5q)
MONDO:0008907	PMM2-congenital disorder of glycosylation	PMM2-CDG	PMM2-congenital disorder of glycosylation
MONDO:0008908	MGAT2-congenital disorder of glycosylation	MGAT2-CDG	MGAT2-congenital disorder of glycosylation
MONDO:0012117	ALG9-congenital disorder of glycosylation	ALG9-CDG	ALG9-congenital disorder of glycosylation
MONDO:0010478	SLC35A2-congenital disorder of glycosylation	SLC35A2-CDG	SLC35A2-congenital disorder of glycosylation
MONDO:0010490	SSR4-congenital disorder of glycosylation	SSR4-CDG	SSR4-congenital disorder of glycosylation
MONDO:0010998	ALG3-congenital disorder of glycosylation	ALG3-CDG	ALG3-congenital disorder of glycosylation
MONDO:0011257	MPI-congenital disorder of glycosylation	MPI-CDG	MPI-congenital disorder of glycosylation
MONDO:0011291	ALG6-congenital disorder of glycosylation 1C	congenital disorder of glycosylation type 1C	ALG6-congenital disorder of glycosylation 1C
MONDO:0011342	SLC35A1-congenital disorder of glycosylation	SLC35A1-CDG	SLC35A1-congenital disorder of glycosylation
MONDO:0011629	MOGS-congenital disorder of glycosylation	MOGS-CDG	MOGS-congenital disorder of glycosylation
MONDO:0011772	B4GALT1-congenital disorder of glycosylation	B4GALT1-CDG	B4GALT1-congenital disorder of glycosylation
MONDO:0011783	ALG12-congenital disorder of glycosylation	ALG12-CDG	ALG12-congenital disorder of glycosylation
MONDO:0011933	ALG2-congenital disorder of glycosylation	ALG2-CDG	ALG2-congenital disorder of glycosylation
MONDO:0011964	DPAGT1-congenital disorder of glycosylation	DPAGT1-CDG	DPAGT1-congenital disorder of glycosylation
MONDO:0011969	ALG8-congenital disorder of glycosylation	ALG8-CDG	ALG8-congenital disorder of glycosylation
MONDO:0012041	familial adenomatous polyposis 2	MUTYH-related attenuated familial adenomatous polyposis	familial adenomatous polyposis 2
MONDO:0012052	ALG1-congenital disorder of glycosylation	ALG1-CDG	ALG1-congenital disorder of glycosylation
MONDO:0012118	COG7-congenital disorder of glycosylation	COG7-CDG	COG7-congenital disorder of glycosylation
MONDO:0012128	transposition of the great arteries, dextro-looped	dextro-looped transposition of the great arteries 1	transposition of the great arteries, dextro-looped
MONDO:0012211	MPDU1-congenital disorder of glycosylation	MPDU1-CDG	MPDU1-congenital disorder of glycosylation
MONDO:0012556	DK1-congenital disorder of glycosylation	DK1-CDG	DK1-congenital disorder of glycosylation
MONDO:0012635	COG8-congenital disorder of glycosylation	COG8-CDG	COG8-congenital disorder of glycosylation
MONDO:0012637	COG1-congenital disorder of glycosylation	COG1-CDG	COG1-congenital disorder of glycosylation
MONDO:0012783	RFT1-congenital disorder of glycosyla...

Mondo ID	Label	Previous release	New release
MONDO:0004736	inborn disorder of amino acid metabolism	inherited amino acid metabolic disorder	inborn disorder of amino acid metabolism
MONDO:0000688	inborn organic aciduria	inherited organic acidemia	inborn organic aciduria
MONDO:0002412	disorder of glycogen metabolism	glycogen storage disease	disorder of glycogen metabolism
MONDO:0019216	inborn disorder of amino acid transport	inborn disorder of amino acid absorption and transport	inborn disorder of amino acid transport
MONDO:0017706	disorder of carbohydrate transmembrane transport and absorption	disorder of carbohydrate absorption and transport	disorder of carbohydrate transmembrane transport and absorption
MONDO:0019225	disorder of gluconeogenesis	gluconeogenesis disorder	disorder of gluconeogenesis
MONDO:0010078	spondyloperipheral dysplasia	spondyloperipheral dysplasia-short ulna syndrome	spondyloperipheral dysplasia
MONDO:0010888	adenomyosis	endometriosis of uterus	adenomyosis
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0014502	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016454	Charcot-Marie-Tooth disease type 2B5	severe early-onset axonal neuropathy due to NEFL deficiency	Charcot-Marie-Tooth disease type 2B5
MONDO:0019235	inborn disorder of phenylalanine and tyrosine metabolism	inborn disorder of phenylalanin or tyrosine metabolism	inborn disorder of phenylalanine and tyrosine metabolism
MONDO:0019223	disorder of fatty acid and ketone body metabolism	inborn disorder of fatty acid oxidation and ketone body metabolism	disorder of fatty acid and ketone body metabolism
MONDO:0017900	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Releases: monarch-initiative/mondo

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