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

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 glycosylation	RFT1-CDG	RFT1-congenital disorder of glycosylation
MONDO:0012885	SRD5A3-congenital disorder of glycosylation	SRD5A3-CDG	SRD5A3-congenital disorder of glycosylation
MONDO:0013049	DPM3-congenital disorder of glycosylation	DPM3-CDG	DPM3-congenital disorder of glycosylation
MONDO:0013281	COG4-congenital disorder of glycosylation	COG4-CDG	COG4-congenital disorder of glycosylation
MONDO:0013325	COG5-congenital disorder of glycosylation	COG5-CDG	COG5-congenital disorder of glycosylation
MONDO:0013349	ALG11-congenital disorder of glycosylation	ALG11-CDG	ALG11-congenital disorder of glycosylation
MONDO:0013463	congenital heart defects, multiple types, 6	dextro-looped transposition of the great arteries 3	congenital heart defects, multiple types, 6
MONDO:0013789	DDOST-congenital disorder of glycosylation	DDOST-CDG	DDOST-congenital disorder of glycosylation
MONDO:0013810	COG6-ongenital disorder of glycosylation	COG6-CGD	COG6-ongenital disorder of glycosylation
MONDO:0013870	TMEM165-congenital disorder of glycosylation	TMEM165-CDG	TMEM165-congenital disorder of glycosylation
MONDO:0013968	PGM1-congenital disorder of glycosylation	PGM1-CDG	PGM1-congenital disorder of glycosylation
MONDO:0014270	STT3A-congenital disorder of glycosylation	STT3A-CDG	STT3A-congenital disorder of glycosylation
MONDO:0014271	STT3B-congenital disorder of glycosylation	STT3B-CDG	STT3B-congenital disorder of glycosylation
MONDO:0014630	familial adenomatous polyposis 3	NTHL1-related attenuated familial adenomatous polyposis	familial adenomatous polyposis 3
MONDO:0018273	XYLT1-congenital disorder of glycosylation	XYLT1-CDG	XYLT1-congenital disorder of glycosylation
MONDO:0018349	MAN1B1-congenital disorder of glycosylation	MAN1B1-CDG	MAN1B1-congenital disorder of glycosylation
MONDO:0019157	myelodysplastic syndrome with ring sideroblasts	acquired idiopathic sideroblastic anemia	myelodysplastic syndrome with ring sideroblasts
MONDO:0022622	congenital disorder of glycosylation syndrome type 4	CDG syndrome type 4	congenital disorder of glycosylation syndrome type 4
MONDO:0100068	SLC10A7-congenital disorder of glycosylation	SLC10A7-CDG	SLC10A7-congenital disorder of glycosylation

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0005272	myelodysplastic syndrome with single lineage dysplasia	A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)	A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.
MONDO:0006763	frozen shoulder	Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.
MONDO:0008357	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
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.	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).
MONDO:0009842	Pelger-Huet-like anomaly and episodic fever with abdominal pain		An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
MONDO:0010613	inborn glycerol kinase deficiency	An inherited metabolic disease that is has its basis in the disruption of glycerol kinase activity.	An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.
MONDO:0030491	immunodeficiency 91 and hyperinflammation		An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.

Obsolete terms

Mondo ID	Label
MONDO:0004595	obsolete acute pulmonary heart disease
MONDO:0008996	obsolete COACH syndrome 1
MONDO:0009628	obsolete microcolon
MONDO:0010050	obsolete spastic pseudosclerosis
MONDO:0019775	obsolete Chudley-Lowry-Hoar syndrome
MONDO:0019776	obsolete Juberg-Marsidi syndrome
MONDO:0019777	obsolete Carpenter-Waziri syndrome
MONDO:0019778	obsolete Smith-Fineman-Myers syndrome
MONDO:0019779	obsolete Renier-Gabreels-Jasper syndrome
MONDO:0042915	obsolete Schmitt-Gillenwater-Kelly syndrome

New obsoletion candidates

Mondo ID	Label
MONDO:0001324	hyperandrogenism
MONDO:0006928	proliferative vitreoretinopathy
MONDO:0009977	Knobloch syndrome
MONDO:0016784	gestational trophoblastic disease

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

Mondo ID	Label
MONDO:0035370	ALPI-related inflammatory bowel disease