Releases · monarch-initiative/mondo

01 Mar 19:25

sabrinatoro

v2023-03-01

8dbda27

v2023-03-01

Overview:

Number of new terms: 43
Number of changed labels: 10
Number of changed definitions: 37
Number obsoleted terms: 14
Number of new obsoletion candidates: 8
Number of terms who were previously candidate for obsoletion and are now not anymore: 2

New terms

Mondo ID	Label	Definition
MONDO:0100009	structural congenital heart disease, multiple types - GATA4	Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.
MONDO:0100042	cardiac conduction defect
MONDO:0100117	obsolete familial sudden death	OBSOLETE. An instance of sudden cardiac death that is caused by an inherited genomic modification in an individual.
MONDO:0100118	genetic skin disorder	An instance of skin disease that is caused by a modification of the individual's genome.
MONDO:0100167	pulmonary disease, chronic obstructive, susceptibility to	An inherited susceptibility or predisposition to developing COPD.
MONDO:0100295	Alzheimer disease, susceptibility to, mitochondrial
MONDO:0100511	sudden cardiac arrest	The sudden loss of all heart activity due to an irregular heart rhythm.
MONDO:0700049	infectious disease, non-human animal	Infectious disease that occurs in non-human animals.
MONDO:0700050	bacterial infectious disease, non-human animal	Bacterial infectious disease that occurs in non-human animals.
MONDO:0700053	viral infectious disease, non-human animal	Viral infectious disease that occurs in non-human animals.
MONDO:0700056	fungal infectious disease, non-human animal	Fungal infectious disease that occurs in non-human animals.
MONDO:0700058	Morton neuroma	Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.
MONDO:0700059	Actinobacillus infectious disease, non-human animal	Actinobacillus infectious disease that occurs in non-human animals.
MONDO:0700072	Rhabdoviridae infectious disease, non-human animal	Rhabdoviridae infectious disease that occurs in non-human animals.
MONDO:0700095	Reoviridae infectious disease, non-human animal	Reoviridae infectious disease that occurs in non-human animals.
MONDO:0700113	Anaplasmataceae infectious disease, non-human animal	Anaplasmataceae infectious disease that occurs in non-human animals.
MONDO:0700114	vector-borne disease, non-human animal	Vector-borne disease that occurs in non-human animals.
MONDO:0700201	tick-borne infectious disease, non-human animal	Tick-borne infectious disease that occurs in non-human animals.
MONDO:0700202	Bunyaviridae infectious disease, non-human animal	Bunyaviridae infectious disease that occurs in non-human animals.
MONDO:0700203	pestivirus infectious disease, non-human animal	Pestivirus infectious disease that occurs in non-human animals.
MONDO:0700204	trichostrongyloidiasis, non-human animal	Trichostrongyloidiasis that occurs in non-human animals.
MONDO:0700205	ehrlichiosis, non-human animal	Ehrlichiosis that occurs in non-human animals.
MONDO:0700206	Parvoviridae infectious disease, non-human animal	Parvoviridae infectious disease that occurs in non-human animals.
MONDO:0700207	constitutional delay of growth and puberty	Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.
MONDO:0700208	Caliciviridae infectious disease, non-human animal	Caliciviridae infectious disease that occurs in non-human animals.
MONDO:0700209	Strongylida infectious disease, non-human animal	Strongylida infectious disease that occurs in non-human animals.
MONDO:0700210	enterovirus infectious disease, non-human animal	Enterovirus infectious disease that occurs in non-human animals.
MONDO:0700211	Erysipelothrix infectious disease, non-human animal	Erysipelothrix infectious disease that occurs in non-human animals.
MONDO:0700212	tuberculosis, non-human animal	Tuberculosis that occurs in non-human animals.
MONDO:0700213	trypanosomiasis, non-human animal	Trypanosomiasis that occurs in non-human animals.
MONDO:0700214	Herpesviridae infectious disease, non-human animal	Herpesviridae infectious disease that occurs in non-human animals.
MONDO:0700215	NTRK fusion positive cancer	Neoplasm defined by the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.
MONDO:0700216	RET fusion positive cancer	Neoplasm defined by the expression of a RET (REarranged during Transfection) fusion.
MONDO:0700217	neonatal sepsis	Bacterial infection in the bloodstream of newborn infants younger than 28 days old.
MONDO:0700218	group B streptococcal infection	A disease caused by infection with Group B Streptococcus.
MONDO:0700219	neoplastic meningitis	Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.
MONDO:0850001	congenital neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
MONDO:0850008	anterior segment developmental abnormality with extraocular manifestations
MONDO:0850009	syndromic microspherophakia
MONDO:0850010	congenital optic disc excavation
MONDO:0850013	twin anemia-polycythemia sequence
MONDO:0850014	twin-reversed arterial perfusion sequence
MONDO:0850015	selective intrauterine growth restriction

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0000001	disease	disease or disorder	disease
MONDO:0003847	hereditary disease	Mendelian disease	hereditary disease
MONDO:0700096	human disease	human disease or disorder	human disease
MONDO:0007621	Floating-Harbor syndrome	floating-Harbor syndrome	Floating-Harbor syndrome
MONDO:0009263	GAPO syndrome	gapo syndrome	GAPO syndrome
MONDO:0009483	Kapur-Toriello syndrome	kapur-Toriello syndrome	Kapur-Toriello syndrome
MONDO:0009590	metachromatic leukodystrophy due to saposin B deficiency	metachromatic leukodystrophy due to saposin b deficiency	metachromatic leukodystrophy due to saposin B deficiency
MONDO:0011049	Fine-Lubinsky syndrome	fine-Lubinsky syndrome	Fine-Lubinsky syndrome
MONDO:0013166	GABA aminotransaminase deficiency	GABA aminotransferase deficiency	GABA aminotransaminase deficiency
MONDO:0015265	bronchiolitis obliterans syndrome	bronchiolitis obliterans with obstructive pulmonary disease	bronchiolitis obliterans syndrome

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0005550	infectious disease	A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.	A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.
MONDO:0007078	pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).	A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
MONDO:0007412	Beare-Stevenson cutis gyrata syndrome	Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay an...

Assets 21

06 Feb 18:11

sabrinatoro

v2023-02-06

44ce92c

v2023-02-06

Overview:

Number of new terms: 17
Number of changed labels: 11
Number of changed definitions: 7
Number obsoleted terms: 7
Number of new obsoletion candidates: 22
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0031329	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
MONDO:0031415	Carey-Fineman-Ziter syndrome
MONDO:0031632	developmental delay with short stature, dysmorphic facial features, and sparse hair
MONDO:0100158	CHRNG-associated hypo-akinesia disorder of prenatal onset	A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.
MONDO:0100190	gastric intestinal metaplasia	Metaplastic changes in the lining of the upper digestive tract.
MONDO:0100208	self-limited familial neonatal-infantile epilepsy	An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.
MONDO:0100216	DICER1-related tumor predisposition	Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
MONDO:0100227	ALS2-related motor neuron disease	Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.
MONDO:0100235	FOXC1-related anterior segment dysgenesis	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.
MONDO:0100236	LTBP2-related ocular dysgenesis	Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.
MONDO:0100254	CACNA1A-related complex neurodevelopmental disorder	A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
MONDO:0700046	baclofen withdrawal syndrome	Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.
MONDO:0700047	premenopausal osteoporosis	Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.
MONDO:0700048	hand-foot syndrome	A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.
MONDO:0800436	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
MONDO:0800437	Carey-Fineman-Ziter syndrome 1	A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
MONDO:0800438	developmental delay with short stature, dysmorphic facial features, and sparse hair 1	Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0013696	chromosome 2p16.3 deletion syndrome	chromosome 2P16.3 deletion syndrome	chromosome 2p16.3 deletion syndrome
MONDO:0021764	acrofacial dysostosis Preis type	acrofacial dysostosis preis type	acrofacial dysostosis Preis type
MONDO:0024773	spermatogenic failure, X-linked, 4	spermatogenic failure, x-linked, 4	spermatogenic failure, X-linked, 4
MONDO:0025351	multiple congenital anomalies-neurodevelopmental syndrome, X-linked	multiple congenital anomalies-neurodevelopmental syndrome, x-linked	multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MONDO:0035826	symptomatic form of X-linked centronuclear myopathy in female carriers	symptomatic form of x-linked centronuclear myopathy in female carriers	symptomatic form of X-linked centronuclear myopathy in female carriers
MONDO:0100024	self-limited familial infantile epilepsy	self-limited familial and non-familial infantile seizures	self-limited familial infantile epilepsy
MONDO:0800250	Graves disease, susceptibility to, X-linked 2	graves disease, susceptibility to, x-linked 2	Graves disease, susceptibility to, X-linked 2
MONDO:0800318	Emery-Deifuss muscular dystrophy 6, X-linked	Emery-dDeifuss muscular dystrophy 6, x-linked	Emery-Deifuss muscular dystrophy 6, X-linked
MONDO:0800319	cone dystrophy 5, X-linked	cone dystrophy 5, x-linked	cone dystrophy 5, X-linked
MONDO:0800320	cone dystrophy 1, X-linked	cone dystrophy 1, x-linked	cone dystrophy 1, X-linked
MONDO:0800321	congenital heart defects, multiple types, 1, X-linked	congenital heart defects, multiple types, 1, x-linked	congenital heart defects, multiple types, 1, X-linked

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0005567	substance withdrawal syndrome	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.
MONDO:0005789	hepatitis D virus infection	Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily trans...

Assets 21

04 Jan 19:47

sabrinatoro

v2023-01-04

ece31ee

v2023-01-04

Overview:

Number of new terms: 130
Number of changed labels: 11
Number of changed definitions: 11
Number obsoleted terms: 9
Number of new obsoletion candidates: 1
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100149	PNPLA6-related spastic paraplegia with or without ataxia	An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.
MONDO:0100162	IKBKG-related immunodeficiency with or without ectodermal dysplasia	Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).
MONDO:0100191	inherited kidney disorder	A type of genetic disorder manifestations of primary clinical importance in the and that primarily results from alterations in one gene or from an alternation of the genome affecting one or more gene or functional element. Said genetic or genomic alteration may be inherited from one or both parents or may occur de novo.
MONDO:0100198	Mendelian encephalopathy	An instance of encephalopathy that is caused by an inherited genomic modification in an individual.
MONDO:0100199	diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate
MONDO:0100200	microcephaly with intellectual disability	Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.
MONDO:0100201	lumbar disc disease	A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.
MONDO:0100202	lumbar disc herniation, susceptibility to
MONDO:0100206	lumbar disc degeneration, susceptibility to
MONDO:0100207	infantile-onset epilepsy	Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.
MONDO:0700042	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene.
MONDO:0700044	TUBB2A-related tubulinopathy	A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.
MONDO:0700045	protothecosis	A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.
MONDO:0800296	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
MONDO:0800297	neuronal ceroid lipofuscinosis, late infantile
MONDO:0800298	peroxisome biogenesis disorder, complementation group 2
MONDO:0800299	myopathy, congenital, with excess of muscle spindles
MONDO:0800300	black locks with albinism and deafness syndrome
MONDO:0800301	Friedreich ataxia with retained reflexes
MONDO:0800302	glycogen storage disease Id
MONDO:0800303	hypophosphatasia, perinatal lethal
MONDO:0800304	neuropathy, hereditary sensory and autonomic, type IId
MONDO:0800305	myelofibrosis with myeloid metaplasia
MONDO:0800306	epilepsy, progressive myoclonic, 2b
MONDO:0800307	de la Chapelle dysplasia
MONDO:0800308	orotic aciduria without megaloblastic anemia
MONDO:0800310	pregnancy loss, recurrent, 4
MONDO:0800311	vas deferens, congenital unilateral aplasia of
MONDO:0800312	woolly hair, autosomal recessive 1, with or without hypotrichosis
MONDO:0800316	contiguous ABCD1/DXS1375E deletion syndrome
MONDO:0800317	premature ovarian failure 4
MONDO:0800318	Emery-dDeifuss muscular dystrophy 6, x-linked
MONDO:0800319	cone dystrophy 5, x-linked
MONDO:0800320	cone dystrophy 1, x-linked
MONDO:0800321	congenital heart defects, multiple types, 1, x-linked
MONDO:0800322	membranous obstruction of inferior vena cava
MONDO:0800323	long QT syndrome 4
MONDO:0800324	microphthalmia, isolated, with coloboma 8
MONDO:0800326	cone-rod dystrophy 14
MONDO:0800329	febrile seizures, familial, 3a
MONDO:0800330	myoclonic epilepsy, juvenile, 2
MONDO:0800331	hyperglycinemia, transient neonatal
MONDO:0800335	migraine, familial hemiplegic, 4
MONDO:0800337	acute tubulointerstitial nephritis
MONDO:0800339	laryngospasm, severe neonatal episodic
MONDO:0800340	seasonal affective disorder, susceptibility to
MONDO:0800341	cap myopathy 1
MONDO:0800342	cap myopathy 2
MONDO:0800343	rhegmatogenous retinal detachment, autosomal dominant
MONDO:0800344	brachydactyly-syndactyly-oligodactyly syndrome
MONDO:0800345	atrial fibrillation, familial, 17
MONDO:0800346	left ventricular noncompaction 9
MONDO:0800347	cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
MONDO:0800349	atrial fibrillation, familial, 16
MONDO:0800350	left ventricular noncompaction 4
MONDO:0800408	urogenital adysplasia
MONDO:0800409	ventricular fibrillation during myocardial infarction, susceptibility to
MONDO:0800410	UV-induced skin damage, susceptibility to
MONDO:0800412	yakut short stature syndrome
MONDO:0800413	antisocial behavior, susceptibility to
MONDO:0800414	aplastic anemia, susceptibility to
MONDO:0800415	asthma, aspirin-induced, susceptibility to
MONDO:0800416	autism, susceptibility to, 1
MONDO:0800417	autism, susceptibility to, 4
MONDO:0800418	breast cancer, familial, susceptibility to, 1
MONDO:0800419	breast cancer, familial, susceptibility to, 2
MONDO:0800420	breast cancer, familial, susceptibility to, 3
MONDO:0800421	cardiomyopathy, familial hypertrophic, 4, susceptibility to
MONDO:0800422	cirrhosis, noncryptogenic, susceptibility to
MONDO:0800423	colorectal cancer, susceptibility to, 4
MONDO:0800424	colorectal cancer, susceptibility to, on chromosome 15
MONDO:0800425	coronary artery disease, severe, susceptibility to
MONDO:0800426	dengue fever, susceptibility to
MONDO:0800427	dengue hemorrhagic fever, susceptibility to
MONDO:0800428	dengue shock syndrome, susceptibility to
MONDO:0800429	dyslexia, susceptibility to, 4
MONDO:0800430	dyslexia, susceptibility to, 7
MONDO:0800431	efavirenz central nervous system toxicity, susceptibility to
MONDO:0800432	obesity, susceptibility to
MONDO:0800433	ovarian cancer, familial, susceptibility to, 1
MONDO:0800434	ovarian cancer, familial, susceptibility to, 2
MONDO:0800435	ovarian cancer, familial, susceptibility to, 3
MONDO:0850030	complete hemimelia
MONDO:0850046	amniotic fluid embolism
MONDO:0850048	classic eosinophilic pustular folliculitis
MONDO:0850049	painful legs and moving toes syndrome
MONDO:0850050	congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
MONDO:0850053	F12-associated cold autoinflammatory syndrome
MONDO:0850054	hemophilia B leyden
MONDO:0850058	chronic neurovisceral acid sphingomyelinase deficiency
MONDO:0850059	hereditary persistence of fetal hemoglobin-intellectual disability syndrome
MONDO:0850064	inherited hematologic cancer-predisposing syndrome
MONDO:0850065	neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
MONDO:0850066	SAMD9L-associated autoinflammatory syndrome
MONDO:0850067	immune deficiency due to impaired neutrophil phagocytosis and migration
MONDO:0850068	early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
MONDO:0850069	familial hyperinflammatory lymphoproliferative immunodeficiency
MONDO:0850070	CADINS disease
MONDO:0850071	developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
MONDO:0850072	non-syndromic unisutural craniosynostosis
MONDO:0850073	non-syndromic unicoronal craniosynostosis
MONDO:0850074	non-syndromic unilambdoid craniosynostosis
MONDO:0850075	non-syndromic unifrontosphenoidal craniosynostosis
MONDO:0850076	non-syndromic unisquamosal craniosynostosis
MONDO:0850077	non-syndromic multisutural craniosynostosis
MONDO:0850078	non-syndromic non-specific multisutural craniosynostosis
MONDO:0850079	non-syndromic bilambdoid craniosynostosis
...

Assets 21

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

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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

v2023-03-01

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v2023-02-06

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v2023-01-04

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v2022-12-01

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