v2022-04-04

Overview:

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

New terms

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

Changed terms

Changed labels

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

Changed definitions

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

Obsolete terms

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

v2022-03-01

Overview:

• Number of new terms: 81
• Number of changed labels: 23
• Number of changed definitions: 28
• Number obsoleted terms: 235
• Number of new obsoletion candidates: 47
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0030374	WHIM syndrome 2
MONDO:0030375	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MONDO:0030376	Martsolf syndrome 2
MONDO:0030378	combined oxidative phosphorylation deficiency 53
MONDO:0030397	portal hypertension, noncirrhotic, 2
MONDO:0030399	visceral neuropathy, familial, 2, autosomal recessive
MONDO:0030423	congenital disorder of glycosylation, type 2v
MONDO:0030428	immunodeficiency 85 and autoimmunity
MONDO:0030430	spermatogenic failure 56
MONDO:0030433	Charcot-Marie-Tooth disease, axonal, type 2FF
MONDO:0030434	epilepsy, idiopathic generalized, susceptibility to, 18
MONDO:0030436	anemia, sideroblastic, 5
MONDO:0030437	congenital disorder of glycosylation, type IIw
MONDO:0030438	pontocerebellar hypoplasia, type 16
MONDO:0030439	spermatogenic failure 57
MONDO:0030440	cone-rod dystrophy 22
MONDO:0030448	immunodeficiency 86
MONDO:0030449	deafness, autosomal recessive 118, with cochlear aplasia
MONDO:0030453	developmental and epileptic encephalopathy 97
MONDO:0030454	Joubert syndrome 39
MONDO:0030455	dystonia 31
MONDO:0030456	muscular dystrophy, limb-girdle, autosomal recessive 27
MONDO:0030457	immunodeficiency 87 and autoimmunity
MONDO:0030458	Charcot-Marie-Tooth disease, axonal, Type 2HH
MONDO:0030462	Joubert syndrome 40
MONDO:0030463	spermatogenic failure 58
MONDO:0030465	cataract 49
MONDO:0030471	Galloway-Mowat syndrome 9
MONDO:0030472	developmental and epileptic encephalopathy 98
MONDO:0030473	developmental and epileptic encephalopathy 99
MONDO:0030474	heterotaxy, visceral, 10, autosomal, with male infertility
MONDO:0030475	heterotaxy, visceral, 11, autosomal, with male infertility
MONDO:0030476	Galloway-Mowat syndrome 10
MONDO:0030480	hearing loss, autosomal recessive 119
MONDO:0030482	spastic paraplegia 84, autosomal recessive
MONDO:0030483	immunodeficiency 88
MONDO:0030484	immunodeficiency 89 and autoimmunity
MONDO:0030486	dystonia 32
MONDO:0030487	spondylometaphyseal dysplasia, pagnamenta type
MONDO:0030489	epidermolysis bullosa simplex 2A, generalized severe
MONDO:0030490	oocyte maturation defect 11
MONDO:0030491	immunodeficiency 91 and hyperinflammation
MONDO:0030492	spermatogenic failure 59
MONDO:0030493	spermatogenic failure 60
MONDO:0030498	immunodeficiency 92
MONDO:0030500	Loeys-Dietz syndrome 6
MONDO:0030503	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
MONDO:0030505	cholestasis, progressive familial intrahepatic, 8
MONDO:0030506	ovarian dysgenesis 9
MONDO:0030507	spermatogenic failure 61
MONDO:0030508	spermatogenic failure 62
MONDO:0030512	spastic paraplegia 85, autosomal recessive
MONDO:0030513	dystonia 33
MONDO:0030514	leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
MONDO:0030515	spermatogenic failure 63
MONDO:0030517	trichothiodystrophy 8, nonphotosensitive
MONDO:0030518	trichothiodystrophy 9, nonphotosensitive
MONDO:0030519	agammaglobulinemia 9, autosomal recessive
MONDO:0030522	spermatogenic failure 64
MONDO:0030523	oocyte maturation defect 12
MONDO:0030524	mucopolysaccharidosis, type 10
MONDO:0030525	epidermolysis bullosa simplex 2B, generalized intermediate
MONDO:0030527	epidermolysis bullosa simplex 2C, localized
MONDO:0030528	immunodeficiency 93 and hypertrophic cardiomyopathy
MONDO:0030529	agammaglobulinemia 10, autosomal dominant
MONDO:0030531	spermatogenic failure 65
MONDO:0030533	intellectual developmental disorder, autosomal recessive 73
MONDO:0030534	hypogonadotropic hypogonadism 26 with or without anosmia
MONDO:0030535	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
MONDO:0030538	dystonia 34, myoclonic
MONDO:0030543	combined oxidative phosphorylation deficiency 54
MONDO:0030553	acromesomelic dysplasia 4
MONDO:0030606	Bryant-Li-Bhoj neurodevelopmental syndrome 1
MONDO:0030607	Bryant-Li-Bhoj neurodevelopmental syndrome 2
MONDO:0031200	Bryant-Li-Bhoj neurodevelopmental syndrome
MONDO:0100485	KCNH1 associated disorder	Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.
MONDO:0100486	adult acne	Acne that occurs in an adult.
MONDO:0700038	TDP-43 proteinopathy	Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
MONDO:0700039	bladder exstrophy-epispadias-cloacal extrophy complex	An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.
MONDO:0700040	neonatal jaundice due to ABO incompatibility	Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.
MONDO:0700041	neuroblastoma, susceptibility to, 2

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007064	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	adenosine deaminase deficiency	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007219	Osebold-Remondini syndrome	brachydactyly type A6	Osebold-Remondini syndrome
MONDO:0007550	epidermolysis bullosa simplex 1A, generalized severe	epidermolysis bullosa simplex Dowling-Meara type	epidermolysis bullosa simplex 1A, generalized severe
MONDO:0007551	epidermolysis bullosa simplex 1C, localized	localized epidermolysis bullosa simplex	epidermolysis bullosa simplex 1C, localized
MONDO:0007554	epidermolysis bullosa simplex 1B, generalized intermediate	generalized epidermolysis bullosa simplex, non-Dowling-Meara type	epidermolysis bullosa simplex 1B, generalized intermediate
MONDO:0007555	pidermolysis bullosa simplex 5A, Ogna type	epidermolysis bullosa simplex Ogna type	pidermolysis bullosa simplex 5A, Ogna type
MONDO:0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation	epidermolysis bullosa simplex with mottled pigmentation	epidermolysis bullosa simplex 2F, with mottled pigmentation
MONDO:0008703	acromesomelic dysplasia 2A	acromesomelic dysplasia, Grebe type	acromesomelic dysplasia 2A
MONDO:0008717	acromesomelic dysplasia 2C, Hunter-Thompson type	acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dysplasia 2C, Hunter-Thompson type
MONDO:0009181	epidermolysis bullosa simplex 5B, with muscular dystrophy	epidermolysis bullosa simplex with muscular dystrophy	epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009231	acromesomelic dysplasia 2B	fibular hypoplasia and complex brachydactyly	acromesomelic dysplasia 2B
MONDO:0009741	neuroblastoma, susceptibility to, 1	neuroblastoma, susceptibility to	neuroblastoma, susceptibility to, 1
MONDO:0017919	exstrophy-epispadias complex	bladder exstrophy-epispadias-cloacal exstrophy complex	exstrophy-epispadias complex
MONDO:0016826	methylmalonic aciduria and homocystinuria	methylmalonic acidemia with homocystinuria	methylmalonic aciduria and homocystinuria
MONDO:0010976	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	KRT14-related epidermolysis bullosa simplex	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
MONDO:0011275	acromesomelic dysplasia 1, Maroteaux type	acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia 1, Maroteaux type
MONDO:0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema	epidermolysis bullosa simplex with circinate migratory erythema	epidermolysis bullosa simplex 2E, with migratory circinate erythema
MONDO:0012274	acromesomelic dysplasia 3	...

v2022-02-04

Overview:

• Number of new terms: 55
• Number of changed labels: 290
• Number of changed definitions: 106
• Number obsoleted terms: 16
• Number of new obsoletion candidates: 78
• Number of terms who were previously candidate for obsoletion and are now not anymore: 5

New terms

Mondo ID	Label	Definition
MONDO:0100468	Batten-Turner congenital myopathy	A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
MONDO:0100470	reactive airway disease	Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.
MONDO:0100471	vitamin D deficiency	Abnormally low level of 25-hydroxyvitamin D in the blood.
MONDO:0100474	mild ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.
MONDO:0100475	severe ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.
MONDO:0100476	lipodystrophy, partial, acquired, susceptibility to	An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.
MONDO:0100479	rifampicin-resistant tuberculosis	A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.
MONDO:0100480	autoimmune primary adrenal insufficiency	Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.
MONDO:0100481	active tuberculosis	Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.
MONDO:0100482	extensively drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.
MONDO:0100483	totally drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).
MONDO:0100484	TSPAN12-related vitreoretinopathy	A vitreoretinopathy caused by variants in the TSPAN12 gene.
MONDO:0700008	chromosome 1 disorder	Chromosomal disorder in which chromosome 1 is affected.
MONDO:0700009	chromosome 2 disorder	Chromosomal disorder in which chromosome 2 is affected.
MONDO:0700010	chromosome 3 disorder	Chromosomal disorder in which chromosome 3 is affected.
MONDO:0700011	chromosome 4 disorder	Chromosomal disorder in which chromosome 4 is affected.
MONDO:0700012	chromosome 5 disorder	Chromosomal disorder in which chromosome 5 is affected.
MONDO:0700013	chromosome 6 disorder	Chromosomal disorder in which chromosome 6 is affected.
MONDO:0700014	chromosome 7 disorder	Chromosomal disorder in which chromosome 7 is affected.
MONDO:0700015	chromosome 8 disorder	Chromosomal disorder in which chromosome 8 is affected.
MONDO:0700016	chromosome 9 disorder	Chromosomal disorder in which chromosome 9 is affected.
MONDO:0700017	chromosome 10 disorder	Chromosomal disorder in which chromosome 10 is affected.
MONDO:0700018	chromosome 11 disorder	Chromosomal disorder in which chromosome 11 is affected.
MONDO:0700019	chromosome 12 disorder	Chromosomal disorder in which chromosome 12 is affected.
MONDO:0700020	chromosome 13 disorder	Chromosomal disorder in which chromosome 13 is affected.
MONDO:0700021	chromosome 14 disorder	Chromosomal disorder in which chromosome 14 is affected.
MONDO:0700022	chromosome 15 disorder	Chromosomal disorder in which chromosome 15 is affected.
MONDO:0700023	chromosome 16 disorder	Chromosomal disorder in which chromosome 16 is affected.
MONDO:0700024	chromosome 19 disorder	Chromosomal disorder in which chromosome 19 is affected.
MONDO:0700025	chromosome 20 disorder	Chromosomal disorder in which chromosome 20 is affected.
MONDO:0700026	chromosome 22 disorder	Chromosomal disorder in which chromosome 22 is affected.
MONDO:0700027	chromosome X disorder	Chromosomal disorder in which chromosome X is affected.
MONDO:0700028	chromosome Y disorder	Chromosomal disorder in which chromosome Y is affected.
MONDO:0700029	partial duplication of chromosome 13
MONDO:0700030	complete trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.
MONDO:0700031	mosaic trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.
MONDO:0700032	complete trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.
MONDO:0700033	complete trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.
MONDO:0700034	mosaic trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.
MONDO:0700035	monosomy chromosome 8	A chromosomal disorder consisting of the absence of one chromosome 8.
MONDO:0700036	fibrothecoma	A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.
MONDO:0700037	testicular fibrothecoma	A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.
MONDO:0700118	proximal chromosome 18q deletion syndrome	Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.
MONDO:0700119	distal chromosome 18q deletion syndrome	Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.
MONDO:0700120	BAFopathy	Disorder caused by mutations in the various subunits composing the BAF complex.
MONDO:0700121	ACTL6A-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.
MONDO:0700122	PBRM1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.
MONDO:0700123	SMARCC1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene.
MONDO:0700124	chromosome 21 disorder	Chromosomal disorder in which chromosome 21 is affected.
MONDO:0700125	chromosome 18 disorder	Chromosomal disorder in which chromosome 18 is affected.
MONDO:0700126	trisomy 21	A chromosomal disorder consisting of the presence of an extra chromosome 21.
MONDO:0700127	mosaic trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.
MONDO:0700128	translocation Down syndrome	Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome.
MONDO:0700129	mosaic translocation Down syndrome	Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.
MONDO:0700130	partial Trisomy 21	A chromosomal disorder consisting of the partial duplication of chromosome 21.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0002816	adrenal cortex disorder	adrenal cortex disease	adrenal cortex disorder
MONDO:0020128	motor neuron disorder	motor neuron disease	motor neuron disorder
MONDO:0005039	reproductive system disorder	reproductive system disease	reproductive system disorder
MONDO:0002259	gonadal disorder	gonadal disease	gonadal disorder
MONDO:0005560	brain disorder	brain disease	brain disorder
MONDO:0003225	bone marrow disorder	bone marrow disease	bone marrow disorder
MONDO:0005172	skeletal system disorder	skeletal system disease	skeletal system disorder
MONDO:0005151	endocrine system disorder	endocrine system disease	endocrine system disorder
MONDO:0004805	leukocyte disorder	leukocyte disease	leukocyte disorder
MONDO:0020592	disorder of pharynx	disease of pharynx	disorder of pharynx
MONDO:0043424	digestive system infectious disorder	digestive system infectious disease	digestive system infectious disorder
MONDO:0044987	face disorder	face disease	face disorder
MONDO:0002917	disorder of pilosebaceous unit	disease of pilosebaceous unit	disorder of pilosebaceous unit
MONDO:0024481	skin appendage disorder	skin appendage disease	skin appendage disorder
MONDO:0002051	integumentary system disorder	integumentary system disease	integumentary system disorder
MONDO:0024294	skin disorder caused by infection	skin disease caused by infection	skin disorder caused by infection
MONDO:0000270	lower respiratory tract disorder	...

v2021-12-30

Overview:

• Number of new terms: 7
• Number of changed labels: 201
• Number of changed definitions: 64
• Number obsoleted terms: 36
• Number of new obsoletion candidates: 12
• Number of terms who were previously candidate for obsoletion and are now not anymore: 4

New terms

Mondo ID	Label	Definition
MONDO:0100457	achalasia, familial esophageal	An instance of achalsia that is caused by an inherited genomic modification in an individual.
MONDO:0100458	MECOM-associated syndrome	Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.
MONDO:0100461	gastrointestinal defects and immunodeficiency syndrome	A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
MONDO:0100462	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
MONDO:0100466	butterfly-shaped pigment dystrophy	A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
MONDO:0100467	preeclampsia/eclampsia 1
MONDO:0100469	anosmia, isolated congenital, X-linked	X-linked form of anosmia, isolated congenital.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0700066	myopathy caused by variation in FKRP	myopathy caused by varation in FKRP	myopathy caused by variation in FKRP
MONDO:0700068	myopathy caused by variation in POMGNT1	myopathy caused by varation in POMGNT1	myopathy caused by variation in POMGNT1
MONDO:0000912	autosomal recessive nonsyndromic hearing loss 5	autosomal recessive nonsyndromic deafness 5	autosomal recessive nonsyndromic hearing loss 5
MONDO:0019588	hearing loss, autosomal recessive	deafness, autosomal recessive	hearing loss, autosomal recessive
MONDO:0002145	difference of sexual differentiation	sex differentiation disease	difference of sexual differentiation
MONDO:0019589	syndromic genetic hearing loss	syndromic genetic deafness	syndromic genetic hearing loss
MONDO:0007424	autosomal dominant nonsyndromic hearing loss 1	autosomal dominant nonsyndromic deafness 1	autosomal dominant nonsyndromic hearing loss 1
MONDO:0019587	autosomal dominant nonsyndromic hearing loss	autosomal dominant nonsyndromic deafness	autosomal dominant nonsyndromic hearing loss
MONDO:0007850	autosomal dominant keratitis-ichthyosis-hearing loss syndrome	autosomal dominant keratitis-ichthyosis-deafness syndrome	autosomal dominant keratitis-ichthyosis-hearing loss syndrome
MONDO:0008083	ceroid lipofuscinosis, neuronal, 4 (Kufs type)	neuronal ceroid lipofuscinosis 4B	ceroid lipofuscinosis, neuronal, 4 (Kufs type)
MONDO:0008768	ceroid lipofuscinosis, neuronal, 6B (Kufs type)	neuronal ceroid lipofuscinosis 4A	ceroid lipofuscinosis, neuronal, 6B (Kufs type)
MONDO:0008960	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
MONDO:0009076	autosomal recessive nonsyndromic hearing loss 1A	autosomal recessive nonsyndromic deafness 1A	autosomal recessive nonsyndromic hearing loss 1A
MONDO:0009090	hearing loss, sensorineural, autosomal-mitochondrial type	deafness, sensorineural, autosomal-mitochondrial type	hearing loss, sensorineural, autosomal-mitochondrial type
MONDO:0010779	mitochondrial non-syndromic sensorineural hearing loss	mitochondrial non-syndromic sensorineural deafness	mitochondrial non-syndromic sensorineural hearing loss
MONDO:0009342	Hirschsprung disease-hearing loss-polydactyly syndrome	Hirschsprung disease-deafness-polydactyly syndrome	Hirschsprung disease-hearing loss-polydactyly syndrome
MONDO:0700070	myopathy caused by variation in POMT1	myopathy caused by varation in POMT1	myopathy caused by variation in POMT1
MONDO:0009440	ichthyosiform erythroderma, corneal involvement, and hearing loss	ichthyosiform erythroderma, corneal involvement, and deafness	ichthyosiform erythroderma, corneal involvement, and hearing loss
MONDO:0700067	myopathy caused by variation in FKTN	myopathy caused by varation in FKTN	myopathy caused by variation in FKTN
MONDO:0010228	hearing loss, X-linked 3	deafness, X-linked 3	hearing loss, X-linked 3
MONDO:0019586	X-linked nonsyndromic hearing loss	X-linked nonsyndromic deafness	X-linked nonsyndromic hearing loss
MONDO:0010238	hearing loss, X-linked 4	deafness, X-linked 4	hearing loss, X-linked 4
MONDO:0010378	X-linked hereditary sensory and autonomic neuropathy with hearing loss	X-linked hereditary sensory and autonomic neuropathy with deafness	X-linked hereditary sensory and autonomic neuropathy with hearing loss
MONDO:0010403	albinism-hearing loss syndrome	albinism-deafness syndrome	albinism-hearing loss syndrome
MONDO:0010484	hearing loss, X-linked 6	deafness, X-linked 6	hearing loss, X-linked 6
MONDO:0010576	X-linked mixed hearing loss with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher	X-linked mixed hearing loss with perilymphatic gusher
MONDO:0010577	hearing loss, X-linked 1	deafness, X-linked 1	hearing loss, X-linked 1
MONDO:0010764	hearing loss, Y-linked 1	deafness, Y-linked 1	hearing loss, Y-linked 1
MONDO:0016297	prelingual non-syndromic genetic hearing loss	prelingual non-syndromic genetic deafness	prelingual non-syndromic genetic hearing loss
MONDO:0016298	postlingual non-syndromic genetic hearing loss	postlingual non-syndromic genetic deafness	postlingual non-syndromic genetic hearing loss
MONDO:0010799	aminoglycoside-induced hearing loss	aminoglycoside-induced deafness	aminoglycoside-induced hearing loss
MONDO:0010807	autosomal recessive nonsyndromic hearing loss 2	autosomal recessive nonsyndromic deafness 2	autosomal recessive nonsyndromic hearing loss 2
MONDO:0010817	autosomal dominant nonsyndromic hearing loss 2A	autosomal dominant nonsyndromic deafness 2A	autosomal dominant nonsyndromic hearing loss 2A
MONDO:0010860	autosomal recessive nonsyndromic hearing loss 3	autosomal recessive nonsyndromic deafness 3	autosomal recessive nonsyndromic hearing loss 3
MONDO:0010915	autosomal dominant nonsyndromic hearing loss 4A	autosomal dominant nonsyndromic deafness 4A	autosomal dominant nonsyndromic hearing loss 4A
MONDO:0010918	epilepsy, idiopathic generalized, susceptibility to, 1	EIG1	epilepsy, idiopathic generalized, susceptibility to, 1
MONDO:0010933	autosomal recessive nonsyndromic hearing loss 4	autosomal recessive nonsyndromic deafness 4	autosomal recessive nonsyndromic hearing loss 4
MONDO:0010963	autosomal dominant nonsyndromic hearing loss 6	autosomal dominant nonsyndromic deafness 6	autosomal dominant nonsyndromic hearing loss 6
MONDO:0010965	autosomal recessive nonsyndromic hearing loss 6	autosomal recessive nonsyndromic deafness 6	autosomal recessive nonsyndromic hearing loss 6
MONDO:0010967	autosomal recessive nonsyndromic hearing loss 7	autosomal recessive nonsyndromic deafness 7	autosomal recessive nonsyndromic hearing loss 7
MONDO:0010973	autosomal dominant nonsyndromic hearing loss 5	autosomal dominant nonsyndromic deafness 5	autosomal dominant nonsyndromic hearing loss 5
MONDO:0010986	autosomal recessive nonsyndromic hearing loss 9	autosomal recessive nonsyndromic deafness 9	autosomal recessive nonsyndromic hearing loss 9
MONDO:0010987	autosomal recessive nonsyndromic hearing loss 8	autosomal recessive nonsyndromic deafness 8	autosomal recessive nonsyndromic hearing loss 8
MONDO:0011031	autosomal dominant nonsyndromic hearing loss 10	autosomal dominant nonsyndromic deafness 10	autosomal dominant nonsyndromic hearing loss 10
MONDO:0011032	autosomal dominant nonsyndromic hearing loss 11	autosomal dominant nonsyndromic deafness 11	autosomal dominant nonsyndromic hearing loss 11
MONDO:0011058	autosomal dominant nonsyndromic hearing loss 9	autosomal dominant nonsyndromic deafness 9	autosomal dominant nonsyndromic hearing loss 9
MONDO:0011067	autosomal recessive nonsyndromic hearin...

v2021-12-01

Overview:

• Number of new terms: 47
• Number of changed labels: 65
• Number of changed definitions: 57
• Number obsoleted terms: 53
• Number of new obsoletion candidates: 227
• Number of terms who were previously candidate for obsoletion and are now not anymore: 53

New terms

Mondo ID	Label	Definition
MONDO:0023880	WHIM syndrome
MONDO:0023910	Martsolf syndrome
MONDO:0023961	visceral neuropathy, familial
MONDO:0024189	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
MONDO:0024193	portal hypertension, noncirrhotic
MONDO:0100368	recessive RPE65 retinopathy	A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
MONDO:0100369	iatrogenic or non-iatrogenic	A iatrogenic or non-iatrogenic form of a disease.
MONDO:0100426	iatrogenic	A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100427	non-iatrogenic	A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100428	progressive bulbar palsy of childhood	A progressive bulbar palsy of childhood that occurs during childhood.
MONDO:0100430	fibrotic liver disease	A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.
MONDO:0100431	migraine without aura	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.
MONDO:0100432	FNIP1-associated syndrome	Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.
MONDO:0100433	ACTB-associated syndromic thrombocytopenia	A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
MONDO:0100435	Schwartz-Jampel syndrome type 1
MONDO:0100436	cataract 2, multiple types	Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
MONDO:0100437	RPGR retinopathy	A retinopathy caused by a variant in the X-linked gene, RPGR.
MONDO:0100438	AIPL1 retinopathy	A retinopathy caused by biallelic variants in the AIPL1 gene.
MONDO:0100439	glycogen storage disease IXa2	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
MONDO:0100441	dominant GUCY2D retinopathy	A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
MONDO:0100442	RP2 retinopathy	A retinopathy caused by variants in the X-linked gene, RP2.
MONDO:0100443	RDH5 retinopathy	A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
MONDO:0100444	RLBP1 retinopathy	A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.
MONDO:0100445	LCA5 retinopathy	A retinopathy caused by biallelic variants in the LCA5 gene.
MONDO:0100446	CNGB3 retinopathy	A retinopathy caused by biallelic variants in the CNGB3 gene.
MONDO:0100447	ATF6 retinopathy	A retinopathy caused by biallelic variants in the AFT6 gene.
MONDO:0100448	RAB28 retinopathy	A retinopathy caused by biallelic variants in the RAB28 gene.
MONDO:0100449	FLVCR1 retinopathy with or without ataxia	A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
MONDO:0100450	CAPN5 vitreoretinopathy	An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
MONDO:0100451	CEP290 ciliopathy	A ciliopathy caused by biallelic variants in the CEP290 gene.
MONDO:0100452	dominant RPE65 retinopathy	A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
MONDO:0100453	recessive GUCY2D retinopathy	A retinopathy caused by biallelic variants in the GUCY2D gene.
MONDO:0100454	GUCY2D retinopathy	Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
MONDO:0100455	neonatal-onset developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.
MONDO:0100456	neonatal encephalopathy with non-epileptic myoclonus	A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
MONDO:0700107	chromosome 19q13.11 deletion syndrome, distal	Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.
MONDO:8000006	WHIM syndrome 1	A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
MONDO:8000008	Martsolf syndrome 1	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
MONDO:8000010	antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
MONDO:8000011	visceral neuropathy, familial, 1, autosomal recessive	A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
MONDO:8000012	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
MONDO:8000013	portal hypertension, noncirrhotic, 1
MONDO:8000014	familial antiphospholipid syndrome	Autosomal dominant form of antiphospholipid syndrome.
MONDO:8000015	46,XY sex reversal 11	Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.
MONDO:8000017	testicular regression syndrome	A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
MONDO:8000018	benign paroxysmal positional vertigo	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
MONDO:8000019	vertigo, benign recurrent, 1

Changed terms

Changed label

Mondo ID	Label	Previous release	New release
MONDO:0000030	sleep-related hypermotor epilepsy	epilepsy, nocturnal frontal lobe	sleep-related hypermotor epilepsy
MONDO:0019040	chromosomal disorder	chromosomal anomaly	chromosomal disorder
MONDO:0000839	obsolete congenital abnormality	congenital abnormality	obsolete congenital abnormality
MONDO:0024633	hypertensive nephropathy	hypertensive renal disease	hypertensive nephropathy
MONDO:0002176	obsolete connective tissue cancer	connective tissue cancer	obsolete connective tissue cancer
MONDO:0004914	celiac artery stenosis from compression by median arcuate ligament of diaphragm	median arcuate ligament syndrome	celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0021199	obsolete disease by anatomical system	disease by anatomical system	obsolete disease by anatomical system
MONDO:0005547	obsolete desmoplastic medulloblastoma	desmoplastic medulloblastoma	obsolete desmoplastic medulloblastoma
MONDO:0005569	obsolete cartilage disease	cartilage disease	obsolete cartilage disease
MONDO:0006674	obsolete benign fibrous mesothelioma	benign fibrous mesothelioma	obsolete benign fibrous mesothelioma
MONDO:0006819	obsolete kernicterus	kernicterus	obsolete kernicterus
MONDO:0007140	obsolete antiphospholipid syndrome	antiphospholipid syndrome	obsolete antiphospholipid syndrome
...

v2021-11-01

Overview:

• Number of new terms: 181
• Number of changed labels: 44
• Number of changed definitions: 45
• Number obsoleted terms: 22
• Number of new obsoletion candidates: 49
• Number of terms who were previously candidate for obsoletion and are now not anymore: 21

New terms

Mondo ID	Label	Definition	Obsoletion candidate?	Obsolete
MONDO:0023670	Bardet-Biedl syndrome 20
MONDO:0030258	pontocerebellar hypoplasia, type 14
MONDO:0030259	pontocerebellar hypoplasia, type 15
MONDO:0030260	pontocerebellar hypoplasia, type 1E
MONDO:0030261	pontocerebellar hypoplasia, type 1F
MONDO:0030263	leukodystrophy, hypomyelinating, 21
MONDO:0030266	immunodeficiency 80 with or without congenital cardiomyopathy
MONDO:0030268	developmental and epileptic encephalopathy 6B
MONDO:0030270	lymphatic malformation 9
MONDO:0030281	arthrogryposis multiplex congenita 6
MONDO:0030293	angioedema, hereditary, 5
MONDO:0030294	megacystis-microcolon-intestinal hypoperistalsis syndrome 3
MONDO:0030296	megacystis-microcolon-intestinal hypoperistalsis syndrome 4
MONDO:0030298	angioedema, hereditary, 8
MONDO:0030300	cardiomyopathy, dilated, 2D
MONDO:0030302	immunodeficiency 81
MONDO:0030307	spermatogenic failure 55
MONDO:0030308	immunodeficiency 82 with systemic inflammation
MONDO:0030309	Leber hereditary optic neuropathy, autosomal recessive
MONDO:0030311	combined oxidative phosphorylation deficiency 52
MONDO:0030312	spinocerebellar ataxia, autosomal recessive 29
MONDO:0030313	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
MONDO:0030314	inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
MONDO:0030316	lymphatic malformation 11
MONDO:0030317	cardiomyopathy, familial hypertrophic, 28
MONDO:0030318	spinocerebellar ataxia, autosomal recessive 30
MONDO:0030323	spinocerebellar ataxia, autosomal recessive 31
MONDO:0030326	mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
MONDO:0030329	megacystis-microcolon-intestinal hypoperistalsis syndrome 5
MONDO:0030330	cardiomyopathy, familial restrictive, 6
MONDO:0030331	Ritscher-Schinzel syndrome 4
MONDO:0030332	ciliary dyskinesia, primary, 46
MONDO:0030333	immunodeficiency 84
MONDO:0030334	encephalitis, acute, infection (viral)-induced, susceptibility to, 11
MONDO:0030335	diarrhea 12, with microvillus atrophy
MONDO:0030337	cutis laxa, autosomal recessive, type 2E
MONDO:0030338	anencephaly 2
MONDO:0030339	microcephaly 28, primary, autosomal recessive
MONDO:0030341	myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MONDO:0030346	ciliary dyskinesia, primary, 47, and lissencephaly
MONDO:0030353	Joubert syndrome 38
MONDO:0030354	facioscapulohumeral muscular dystrophy 3, digenic
MONDO:0030355	facioscapulohumeral muscular dystrophy 4, digenic
MONDO:0030356	short-rib thoracic dysplasia 21 without polydactyly
MONDO:0030360	cholestasis, progressive familial intrahepatic, 6
MONDO:0030361	Aicardi-Goutieres syndrome 8
MONDO:0030362	Aicardi-Goutieres syndrome 9
MONDO:0030366	cardiomyopathy, dilated, 2E
MONDO:0100365	mucopolysaccharidosis or mucopolysaccharidosis-like disorder	Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.
MONDO:0100366	occupational disorder	Any disorder that is realized in response to an exposure to occupation.
MONDO:0100367	port-wine nevi-mega cisterna magna-hydrocephalus syndrome	A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
MONDO:0100429	intrahepatic cholestasis of pregnancy	A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
MONDO:0600030	B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.
MONDO:8000000	infectious discitis	An infection of the intervertebral disc space.
MONDO:8000001	staphylococcus discitis	Discitis caused by infection with Staphylococcus.
MONDO:8000002	escherichia coli discitis	Discitis caused by infection with Escherichia coli.
MONDO:8000003	streptococcus pneumoniae discitis	Discitis caused by infection with Streptococcus pneumoniae.
MONDO:8000004	salmonella discitis	Discitis caused by infection with Salmonella.
MONDO:8000005	fungal discitis	Discitis caused by infection with fungi.

Changed terms

Changed label

Mondo ID	Previous release	New release
MONDO:0007665	primary open angle glaucoma	glaucoma 1, open angle, E
MONDO:0019313	hereditary lymphedema	lymphatic malformation
MONDO:0007883	lazy leukocyte syndrome	periodic fever, immunodeficiency, and thrombocytopenia syndrome
MONDO:0007919	lymphedema, hereditary, 1A	lymphatic malformation 1
MONDO:0007920	Meige disease	lymphatic malformation 5
MONDO:0007964	dysplastic nevus syndrome	melanoma, cutaneous malignant, susceptibility to, 2
MONDO:0008233	phaeochromocytoma	pheochromocytoma
MONDO:0009852	congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency
MONDO:0010118	Threoninemia	inherited threoninemia
MONDO:0010301	thrombocythemia, X-linked	obsolete thrombocythemia, X-linked
MONDO:0011293	Homocysteinemia	obsolete Homocysteinemia
MONDO:0012317	visceral neuropathy, familial, autosomal dominant	visceral neuropathy, familial, 3, autosomal dominant
MONDO:0012765	lymphedema, hereditary, 1B	lymphatic malformation 2
MONDO:0012842	CMM7	melanoma, cutaneous malignant, susceptibility to, 7
MONDO:0012892	connective tissue disorder due to lysyl hydroxylase-3 deficiency	bone fragility with contractures, arterial rupture, and deafness
MONDO:0013278	lymphedema, hereditary, 1C	lymphatic malformation 3
MONDO:0013759	MITF-related melanoma and renal cell carcinoma predisposition syndrome	melanoma, cutaneous malignant, susceptibility to, 8
MONDO:0013995	cholestasis, intrahepatic, of pregnancy 3	cholestasis, intrahepatic, of pregnancy, 3
MONDO:0014393	lymphedema, hereditary, 1D	lymphatic malformation 4
MONDO:0014797	lymphedema, hereditary, type III	lymphatic malformation 6
MONDO:0014926	Bardet-Biedl syndrome 20	Bardet-Biedl syndrome 22
MONDO:0015009	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to	lymphatic malformation 7
MONDO:0015318	Pierre Robin syndrome associated with collagen disease	obsolete Pierre Robin syndrome associated with collagen disease
MONDO:0015320	Pierre Robin syndrome associated with a chromosomal anomaly	obsolete Pierre Robin syndrome associated with a chromosomal anomaly
MONDO:0015321	Pierre Robin syndrome associated with branchial archs anomalies	obsolete Pierre Robin syndrome associated with branchial archs anomalies
MONDO:0015322	Pierre Robin syndrome associated with bone disease	obsolete Pierre Robin syndrome associated with bone disease
MONDO:0015543	hemophagocytic syndrome associated with an infection	obsolete hemophagocytic syndrome associated with an infection
MONDO:0015633	Bazex syndrome	obsolete Bazex syndrome
MONDO:0015750	amelogenesis imperfecta-gingival hyperplasia syndrome	obsolete amelogenesis imperfecta-gingival hyperplasia syndrome
MONDO:0015938	systemic disease	obsolete systemic disease
MONDO:0016148	qualitative or quantitative defects of collagen 6	obsolete qualitative or quantitative defects of collagen 6
MONDO:0016329	familial syndrome associated with hypertrophic cardiomyopathy	obsolete familial syndrome associated with hypertrophic cardiomyopathy
MONDO:0017133	genetic systemic or rheumatologic disease	obsolete genetic systemic or rheumatologic disease
MONDO:0017274	autosomal ichthyosis syndrome with other associated signs	obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0019687	type 11 collagen-related bone disorder	obsolete type 11 collagen-related bone disorder
MONDO:0020012	systemic or rheumatic disease	obsolete systemic or rheumatic disease
MONDO:0020272	connective tissue disease with eye involvement	obsolete connective tissue disease with eye involvement
MONDO:0020277	ectodermal malformation syndrome associated with ocular features	obsolete ectodermal malformation syndrome associated with ocular features
MONDO:0020764	carcinoma, Brown-Pearce	Brown-Pearce carcinoma
MONDO:0035354	IgG4-related systemic disease	obsole...

v2021-10-01

New Classes

• MONDO:0023655 immunodeficiency 14b, autosomal recessive
• MONDO:0023657 intellectual developmental disorder, autosomal dominant 65
• MONDO:0023659 developmental and epileptic encephalopathy 96
• MONDO:0023660 angioedema, hereditary, 6
• MONDO:0023662 lymphatic malformation 10
• MONDO:0023664 spermatogenic failure 54
• MONDO:0023671 oculopharyngodistal myopathy 3
• MONDO:0100050 Usher syndrome, type 1D/F
• MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements
• MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements
• MONDO:0100067 childhood spindle cell rhabdomyosarcoma
• MONDO:0100077 congenital alveolar dysplasia
• MONDO:0100090 congenital alveolar dysplasia due to FGF10
• MONDO:0100097 congenital alveolar dysplasia due to TBX4
• MONDO:0100099 retrograde cricopharyngeus dysfunction
• MONDO:0100109 Zinner syndrome
• MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome
• MONDO:0600016 acinar dysplasia
• MONDO:0600017 acinar dysplasia caused by mutation in FGF10
• MONDO:0600018 acinar dysplasia caused by mutation in FGFR2
• MONDO:0600019 acinar dysplasia caused by mutation in TBX4
• MONDO:0600027 congenital right-sided heart lesions
• MONDO:0600029 restrictive pulmonary disease
• MONDO:0700091 ring chromosome anomaly
• MONDO:0700092 neurodevelopmental disorder

Obsoletions

• MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation --> obsolete acute myeloid leukemia, NPM1 gene mutation

Renaming

• MONDO:0010177 retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome --> vascular hyalinosis
• MONDO:0014327 autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering --> palmoplantar keratoderma, nonepidermolytic, focal or diffuse
• MONDO:0018702 TAFRO syndrome --> Castleman-Kojima disease
• MONDO:0023603 hereditary connective tissue disorder --> hereditary disorder of connective tissue
• MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation --> obsolete acute myeloid leukemia, NPM1 gene mutation

v2021-09-01

New Classes

• MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2
• MONDO:0035349 localized dystrophic epidermolysis bullosa
• MONDO:0035354 IgG4-related systemic disease
• MONDO:0035357 portosinusoidal vascular disease
• MONDO:0035362 TRIM22-related inflammatory bowel disease
• MONDO:0035363 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
• MONDO:0035369 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
• MONDO:0035370 ALPI-related inflammatory bowel disease
• MONDO:0035375 multisystem inflammatory syndrome in children and adults
• MONDO:0035398 hypomyelination of early myelinating structures
• MONDO:0100041 secondary trimethylaminuria
• MONDO:0100044 acrofrontofacionasal dysostosis 1
• MONDO:0550003 SEC61B-related polycystic liver disease
• MONDO:0700085 pentasomy
• MONDO:0700086 uniparental disomy
• MONDO:0700087 Usher syndrome type 1B
• MONDO:0700088 paroxysmal nonkinesigenic dyskinesia
• MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1
• MONDO:0700090 epilepsy, familial temporal lobe, 1
• MONDO:0800001 delayed sleep phase syndrome, susceptibility to

Obsoletions

• MONDO:0004424 familial glomangioma --> obsolete familial glomangioma
• MONDO:0005261 pervasive developmental disorder - not otherwise specified --> obsolete pervasive developmental disorder - not otherwise specified
• MONDO:0005442 type 1 diabetes nephropathy --> obsolete type 1 diabetes nephropathy
• MONDO:0005443 type 2 diabetes nephropathy --> obsolete type 2 diabetes nephropathy
• MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 --> obsolete paroxysmal nonkinesigenic dyskinesia 1
• MONDO:0015119 bronchopulmonary tumor --> obsolete bronchopulmonary tumor
• MONDO:0015989 congenital valvular dysplasia --> obsolete congenital valvular dysplasia
• MONDO:0016254 rare variants of adenocarcinoma of the corpus uteri --> obsolete rare variants of adenocarcinoma of the corpus uteri
• MONDO:0016629 hemorrhagic disorder due to a platelet anomaly --> obsolete hemorrhagic disorder due to a platelet anomaly
• MONDO:0016632 thrombotic disorder due to a coagulation factors defect --> obsolete thrombotic disorder due to a coagulation factors defect
• MONDO:0016635 thrombotic disorder due to a platelet anomaly --> obsolete thrombotic disorder due to a platelet anomaly
• MONDO:0016767 cutaneous lichen planus --> obsolete cutaneous lichen planus
• MONDO:0017141 hemorrhagic disorder due to a constitutional thrombocytopenia --> obsolete hemorrhagic disorder due to a constitutional thrombocytopenia
• MONDO:0017663 inherited tremor disorder --> obsolete inherited tremor disorder
• MONDO:0018729 genetic vascular tumor --> obsolete genetic vascular tumor
• MONDO:0019183 inherited odontologic disease --> obsolete inherited odontologic disease
• MONDO:0020092 rare idiopathic male infertility --> obsolete rare idiopathic male infertility
• MONDO:0021720 fetal alcohol spectrum disorders --> obsolete fetal alcohol spectrum disorders

Renaming

• MONDO:0004424 familial glomangioma --> obsolete familial glomangioma
• MONDO:0005261 pervasive developmental disorder - not otherwise specified --> obsolete pervasive developmental disorder - not otherwise specified
• MONDO:0005442 type 1 diabetes nephropathy --> obsolete type 1 diabetes nephropathy
• MONDO:0005443 type 2 diabetes nephropathy --> obsolete type 2 diabetes nephropathy
• MONDO:0005554 rheumatologic disorder --> rheumatic disorder
• MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 --> obsolete paroxysmal nonkinesigenic dyskinesia 1
• MONDO:0008757 alopecia universalis --> alopecia universalis congenita
• MONDO:0009402 hypertelorism-hypospadias-polysyndactyly syndrome --> acrofrontofacionasal dysostosis 2
• MONDO:0014175 mitochondrial DNA depletion syndrome 12 --> mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
• MONDO:0014243 Prader-Willi syndrome due to point mutation --> Schaaf-Yang syndrome
• MONDO:0014959 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant --> mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
• MONDO:0015119 bronchopulmonary tumor --> obsolete bronchopulmonary tumor
• MONDO:0015989 congenital valvular dysplasia --> obsolete congenital valvular dysplasia
• MONDO:0016254 rare variants of adenocarcinoma of the corpus uteri --> obsolete rare variants of adenocarcinoma of the corpus uteri
• MONDO:0016629 hemorrhagic disorder due to a platelet anomaly --> obsolete hemorrhagic disorder due to a platelet anomaly
• MONDO:0016632 thrombotic disorder due to a coagulation factors defect --> obsolete thrombotic disorder due to a coagulation factors defect
• MONDO:0016635 thrombotic disorder due to a platelet anomaly --> obsolete thrombotic disorder due to a platelet anomaly
• MONDO:0016767 cutaneous lichen planus --> obsolete cutaneous lichen planus
• MONDO:0017141 hemorrhagic disorder due to a constitutional thrombocytopenia --> obsolete hemorrhagic disorder due to a constitutional thrombocytopenia
• MONDO:0017663 inherited tremor disorder --> obsolete inherited tremor disorder
• MONDO:0018729 genetic vascular tumor --> obsolete genetic vascular tumor
• MONDO:0019183 inherited odontologic disease --> obsolete inherited odontologic disease
• MONDO:0020092 rare idiopathic male infertility --> obsolete rare idiopathic male infertility
• MONDO:0020726 medullary cystic kidney disease 1 --> tubulointerstitial kidney disease, autosomal dominant, 2
• MONDO:0021720 fetal alcohol spectrum disorders --> obsolete fetal alcohol spectrum disorders
• MONDO:0023007 drachtman weinblatt sitarz syndrome --> Drachtman Weinblatt Sitarz syndrome
• MONDO:0029141 usher syndrome, type 4 --> Usher syndrome, type 4
• MONDO:0030899 oculocutaneous albinism, type 8 --> oculocutaneous albinism type 8
• MONDO:0100232 'psoriatic arthritis, susceptibility to --> psoriatic arthritis, susceptibility to
• MONDO:0700066 myopathy caused by mutation in FKRP --> myopathy caused by varation in FKRP
• MONDO:0700067 myopathy caused by mutation in FKTN --> myopathy caused by varation in FKTN
• MONDO:0700068 myopathy caused by mutation in POMGNT1 --> myopathy caused by varation in POMGNT1
• MONDO:0700069 myopathy caused by mutation in POMGNT2 --> myopathy caused by varation in POMGNT2
• MONDO:0700070 myopathy...

v2021-08-11

New Classes

• MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors
• MONDO:0100007 chronic inflammatory demyelinating polyneuropathy
• MONDO:0100017 pityriasis rubra pilaris
• MONDO:0100018 adult onset pityriasis rubra pilaris
• MONDO:0100037 juvenile onset pityriasis rubra pilaris
• MONDO:0100373 acute myeloid leukemia, inv(16)(p13.1;q22)
• MONDO:0100374 acute myeloid leukemia, t(16;16)(p13.1;q22)
• MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21)
• MONDO:0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3)
• MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23)
• MONDO:0100378 acute myeloid leukemia, t(10;11)(p11.2;q23)
• MONDO:0100379 acute myeloid leukemia, t(1;11)(q21;q23)
• MONDO:0100380 acute myeloid leukemia, t(4;11)(q21;q23)
• MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23)
• MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1)
• MONDO:0100383 acute myeloid leukemia, t(11;19)(q23;p13)
• MONDO:0100384 acute myeloid leukemia, t(11;19)(q23;p13.1)
• MONDO:0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3)
• MONDO:0100386 acute myeloid leukemia, t(v;11q23.3)
• MONDO:0100387 acute myeloid leukemia, Monosomy 7
• MONDO:0100388 acute myeloid leukemia, Monosomy 5
• MONDO:0100389 acute myeloid leukemia, Trisomy 8
• MONDO:0100390 acute myeloid leukemia, der12p
• MONDO:0100391 acute myeloid leukemia, t(2;12)
• MONDO:0100392 acute myeloid leukemia, t(11;17)
• MONDO:0100393 acute myeloid leukemia, t(8;16)
• MONDO:0100394 acute myeloid leukemia, t(1;22)
• MONDO:0100395 acute myeloid leukemia, t(5;11)(q35;p15)
• MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13)
• MONDO:0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2)
• MONDO:0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2)
• MONDO:0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2)
• MONDO:0100400 acute myeloid leukemia, t(3;12)(q23;p12.3)
• MONDO:0100401 acute myeloid leukemia, del(5q31-q32)
• MONDO:0100402 acute myeloid leukemia, del(13q14-q21)
• MONDO:0100403 acute myeloid leukemia, loss of chromosome 17p
• MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement
• MONDO:0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive
• MONDO:0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3)
• MONDO:0100407 acute myeloid leukemia, t(11;15)(p15;q35)
• MONDO:0100408 acute myeloid leukemia, t(16;21)(q24;q22)
• MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34)
• MONDO:0100410 acute myeloid leukemia, t(16;21)(p11;q22)
• MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation
• MONDO:0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation
• MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation
• MONDO:0100414 acute myeloid leukemia, CEBPA gene mutation
• MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication
• MONDO:0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation
• MONDO:0100417 acute myeloid leukemia, WT1 gene mutation
• MONDO:0100418 acute myeloid leukemia, KIT exon 17 mutation
• MONDO:0100419 acute myeloid leukemia, KIT exon 8 mutation
• MONDO:0100420 acute myeloid leukemia, KIT gene mutation
• MONDO:0100421 acute myeloid leukemia, GATA1 gene mutation
• MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation
• MONDO:0100423 acute myeloid leukemia, PTPN11 gene mutation
• MONDO:0100424 acute myeloid leukemia, NRAS gene mutation
• MONDO:0100425 acute myeloid leukemia, KRAS gene mutation
• MONDO:0700066 myopathy caused by mutation in FKRP
• MONDO:0700067 myopathy caused by mutation in FKTN
• MONDO:0700068 myopathy caused by mutation in POMGNT1
• MONDO:0700069 myopathy caused by mutation in POMGNT2
• MONDO:0700070 myopathy caused by mutation in POMT1
• MONDO:0700071 myopathy caused by mutation in POMT2 {xref="MONDO:patterns/disease_series_by_gene"}
• MONDO:0700075 congenital muscular dystrophy caused by mutation in POMGNT2
• MONDO:0700084 myopathy caused by mutation in GMPPB

Obsoletions

• MONDO:0005721 coxsackievirus infectious disease --> obsolete coxsackievirus infectious disease
• MONDO:0006448 testicular teratoma (disease) --> obsolete testicular teratoma (disease)
• MONDO:0015598 acrodermatitis continua suppurativa of Hallopeau --> obsolete acrodermatitis continua suppurativa of Hallopeau
• MONDO:0016597 generalized pustular psoriasis --> obsolete generalized pustular psoriasis
• MONDO:0018452 deficiency of the interleukin-36 receptor antagonist --> obsolete deficiency of the interleukin-36 receptor antagonist
• MONDO:0024293 polyposis, gastric, Dos Santos and de Magalhaes 1980 --> obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980
• MONDO:0024351 familial pityriasis rubra pilaris --> obsolete familial pityriasis rubra pilaris
• MONDO:0029001 chemically-induced disorder --> obsolete chemically-induced disorder
• MONDO:0045028 radiation or chemically induced disorder --> obsolete radiation or chemically induced disorder

Renaming

• MONDO:0005721 coxsackievirus infectious disease --> obsolete coxsackievirus infectious disease
• MONDO:0006448 testicular teratoma (disease) --> obsolete testicular teratoma (disease)
• MONDO:0007691 chronic inflammatory demyelinating polyneuropathy --> Guillain-Barre syndrome, familial
• MONDO:0007953 binder syndrome --> Binder syndrome
• MONDO:0008251 pityriasis rubra pilaris --> familial pityriasis rubra pilaris
• MONDO:0010711 tarp syndrome --> TARP syndrome
• MONDO:0011922 adult idiopathic neutropenia --> nonimmune chronic idiopathic neutropenia of adults
• MONDO:0015598 acrodermatitis continua suppurativa of Hallopeau --> obsolete acrodermatitis continua suppurativa of Hallopeau
• MONDO:0016597 generalized pustular psoriasis --> obsolete generalized pustular psoriasis
• MONDO:0018452 deficiency of the...

v2021-08-03

New Classes

• MONDO:0600026 vanishing lung syndrome
• MONDO:0700064 aneuploidy
• MONDO:0700065 trisomy

Obsoletions

• MONDO:0004626 Hodgkin's paragranuloma --> obsolete Hodgkin's paragranuloma
• MONDO:0005889 orthomyxoviridae infectious disease --> obsolete orthomyxoviridae infectious disease
• MONDO:0008074 nerve growth factor, alpha subunit --> obsolete nerve growth factor, alpha subunit
• MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome --> obsolete hypotonia-speech impairment-severe cognitive delay syndrome

Renaming

• MONDO:0004626 Hodgkin's paragranuloma --> obsolete Hodgkin's paragranuloma
• MONDO:0005889 orthomyxoviridae infectious disease --> obsolete orthomyxoviridae infectious disease
• MONDO:0008074 nerve growth factor, alpha subunit --> obsolete nerve growth factor, alpha subunit
• MONDO:0014823 TBCK-related intellectual disability syndrome --> hypotonia, infantile, with psychomotor retardation and characteristic facies 3
• MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome --> obsolete hypotonia-speech impairment-severe cognitive delay syndrome