v2026-03-03

New terms: 156

Mondo ID	Label	Definition
MONDO:0700385	Camurati-Engelmann disease type 1	A Camurati-Engelmann disease caused by a variation in the TGFB1 gene.
MONDO:0700386	enhanced S-cone syndrome 2	An enhanced S-cone syndrome caused by a variation in the NRL gene.
MONDO:0700387	dentin dysplasia, type IB
MONDO:0700388	cardiac conduction disease with or without dilated cardiomyopathy 1	A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the TNNI3K gene.
MONDO:0700389	cardiac conduction disease with or without cardiomyopathy 2	A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the POPDC2 gene.
MONDO:0700390	follicular lymphoma, susceptibility to, 2
MONDO:0700391	autoinflammation and autoimmunity with immune dysregulation 1
MONDO:0700392	autoinflammation and autoimmunity with immune dysregulation 2
MONDO:0700393	idiopathic triglyceride deposit cardiomyovasculopathy
MONDO:0975919	IFIH1-related hereditary spastic paraplegia
MONDO:0975920	RNASEH2B-related hereditary spastic paraplegia
MONDO:0978306	isolated duodenal duplication
MONDO:0978307	isolated jejuno-ileal duplication
MONDO:0978310	adenomatoid tumour of the peritoneum
MONDO:0978312	isolated anal canal duplication
MONDO:0979257	isolated anogenital granulomatosis	A rare urogenital disease characterized by the presence of granulomas in the genital or anoperineal area presenting with painless swelling, inflammation, ulcers and lymphoedema. It is usually associated with a history of recurrent perianal or genital lesions.
MONDO:0979258	cerebral proliferative angiopathy	A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation.
MONDO:0979259	triglyceride deposit cardiomyovasculopathy	A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.
MONDO:0979261	RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
MONDO:0979271	congenital intrahepatic arterioportal fistula
MONDO:0979273	ADAR-related hereditary spastic paraplegia
MONDO:0979280	pure squamous carcinoma of the urothelial tract
MONDO:0979281	giant omphalocele
MONDO:0979282	small omphalocele
MONDO:0979284	acinar cystic transformation of the pancreas
MONDO:0979286	sickle cell-beta zero-thalassemia
MONDO:0979287	sickle cell-beta plus-thalassemia
MONDO:0979288	combined immunodeficiency due to dimerization defective IKAROS mutation
MONDO:0979290	late-onset combined immunodeficiency due to ICOSL deficiency
MONDO:0979291	3q26q28 deletion syndrome
MONDO:0979292	primary vitreoretinal large b-cell lymphoma
MONDO:0979300	PPARG-associated congenital generalized lipodystrophy
MONDO:0979307	emergomycosis
MONDO:0979310	lymphoepithelial cyst of the pancreas
MONDO:0979315	combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
MONDO:0979316	early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation
MONDO:0979317	ST3GAL3-congenital disorder of glycosylation
MONDO:0979319	congenital peritoneal encapsulation
MONDO:0979323	carotid web
MONDO:0979325	annular erythema of infancy
MONDO:0979326	Fontan-associated liver disease	Chronic disease that occur as a complication of the Fontan procedure, a palliative surgery for patients with congenital heart disease that results in a single-ventricle circulation.
MONDO:0979327	combined immunodeficiency with low Ig due to BCL10 deficiency
MONDO:0979328	immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
MONDO:0979334	necrotizing cellulitis
MONDO:0979335	fibro-adipose vascular anomaly	A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable.
MONDO:0979337	necrotizing myositis
MONDO:0979339	infantile neuronal ceroid lipofuscinosis 1
MONDO:0979340	late infantile neuronal ceroid lipofuscinosis 1
MONDO:0979341	juvenile neuronal ceroid lipofuscinosis 1
MONDO:0979342	adult neuronal ceroid lipofuscinosis 1
MONDO:0979343	infantile neuronal ceroid lipofuscinosis 2
MONDO:0979344	late infantile neuronal ceroid lipofuscinosis 2
MONDO:0979345	juvenile neuronal ceroid lipofuscinosis 2
MONDO:0979346	juvenile neuronal ceroid lipofuscinosis 3
MONDO:0979347	protracted juvenile neuronal ceroid lipofuscinosis 3
MONDO:0979348	late infantile neuronal ceroid lipofuscinosis 5
MONDO:0979349	juvenile neuronal ceroid lipofuscinosis 5
MONDO:0979350	adult neuronal ceroid lipofuscinosis 5
MONDO:0979353	2p25.3 microduplication syndrome
MONDO:0979354	sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
MONDO:0979355	homozygous hemoglobin O Arab disease
MONDO:0979356	autosomal recessive hereditary chronic pancreatitis
MONDO:0979357	idiopathic chronic pancreatitis
MONDO:0979359	TARDBP-related predominantly upper-limb distal myopathy
MONDO:0979360	ADNP-related blepharophimosis-intellectual disability syndrome
MONDO:0979361	asymetric thumb-handgrip weakness-distal myopathy
MONDO:0979362	calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
MONDO:0979367	late infantile neuronal ceroid lipofuscinosis 6
MONDO:0979368	juvenile neuronal ceroid lipofuscinosis 6
MONDO:0979370	late infantile neuronal ceroid lipofuscinosis 8
MONDO:0979371	congenital neuronal ceroid lipofuscinosis 10
MONDO:0979372	late infantile neuronal ceroid lipofuscinosis 10
MONDO:0979373	juvenile neuronal ceroid lipofuscinosis 10
MONDO:0979881	infection-induced acute-onset axonal neuropathy
MONDO:0979897	congenital myopathy 27
MONDO:0979898	Dursun-Ozgul neurodevelopmental syndrome
MONDO:0979899	spondyloepiphyseal dysplasia, Holling type
MONDO:0980699	neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
MONDO:0980700	neurodevelopmental disorder with speech delay and behavioral abnormalities
MONDO:0980701	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2
MONDO:0980702	immune dysregulation, neurodevelopmental defects, and colitis
MONDO:0980703	Harel-Tora neurodevelopmental syndrome
MONDO:0980704	neurocardiorenal malformation syndrome
MONDO:0980705	congenital disorder of glycosylation, type IIcc
MONDO:0980706	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
MONDO:0980707	Valence-Farazi cerebellar ataxia syndrome
MONDO:0980708	spermatogenic failure 102
MONDO:0980709	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
MONDO:0980710	neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
MONDO:0980711	brain small vessel disease 6 with leukoencephalopathy
MONDO:0980712	dyschromatosis, ichthyosis, deafness, and atopic disease
MONDO:0980715	cardiac conduction disease with or without cardiomyoopathy	A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.
MONDO:0980721	rhabdomyolysis, susceptibility to, 2
MONDO:0980722	Stargardt disease 5
MONDO:0980723	fetomaternal alloimmune thrombocytopenia 1
MONDO:0980724	fetomaternal alloimmune thrombocytopenia 2
MONDO:0980725	fetomaternal alloimmune thrombocytopenia 3
MONDO:0980726	Ververi-Brady syndrome 2
MONDO:0980727	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
MONDO:0980728	developmental delay with sleep apnea
MONDO:0980729	immunodeficiency 134 (Epstein-Barr virus-specific)
MONDO:0980732	Pitt-Hopkins or Pitt-Hopkins-like syndrome
MONDO:0980746	intellectual developmental disorder, autosomal recessive 84
MONDO:0980747	brain small vessel disease 2B, autosomal recessive
MONDO:0980748	intellectual developmental disorder, autosomal dominant 77
MONDO:0980749	apolipoprotein A-II deficiency
MONDO:0980751	Ramond-Elliott neurodevelopmental syndrome
MONDO:0980752	leukoencephalopathy without lacunae, adult-onset
MONDO:0980755	mitochondrial complex IV deficiency, nuclear type 24
MONDO:0980756	congenital ...

v2026-02-03

New terms: 11

Mondo ID	Label	Definition
MONDO:1010182	premenstrual dysphoric disorder	A severe form of premenstrual syndrome (PMS) that involves significant emotional and physical symptoms in the week or two before a period.
MONDO:1010183	macular telangiectasia type 2	A macular telangiectasia that causes slow deterioration of central vision, typically appearing in people between the ages of 50 and 60. It is characterized by the dilation and leakage of blood vessels in the macula, the part of the retina responsible for sharp, detailed vision, and is also linked to neurodegeneration in retinal cells.
MONDO:1010184	macular telangiectasia	An eye disorder characterized by retinal capillary network incompetence, dilatations, and thinning which can be uniocular or binocular and causes gradual deterioration of central vision.
MONDO:1010185	transplant rejection	A disease related to transplantation that occurs when transplant tissue is rejected by the recipient's immune system, which destroys the transplanted tissue.
MONDO:1010186	hyperacute transplant rejection	A transplant rejection that appears in the first minutes following transplantation and occurs only in vascularized grafts. This very fast rejection is characterized by vessels thrombosis leading to graft necrosis. Hyperacute rejection is caused by the presence of antidonor antibodies existing in the recipient before transplantation. These antibodies induce both complement activation and stimulation of endothelial cells to secrete Von Willebrand procoagulant factor, resulting in platelet adhesion and aggregation. The result of these series of reactions is the generation of intravascular thrombosis leading to lesion formation and ultimately to graft loss.
MONDO:1010187	acute transplant rejection	A transplant rejection that is caused by an immune response directed against the graft and occurs between 1 week and several months after transplantation. Acute rejection is diagnosed on histological analysis of a graft biopsy. Acute rejection is thought to result from two immunological mechanisms that may act alone or in combination: (1) a T-cell-dependent process that corresponds to acute cellular rejection, and (2) a B-cell-dependent process that generates the acute humoral rejection.
MONDO:1010188	chronic transplant rejection	An insidious form of transplant rejection that leads to graft destruction over months to years after tissue transplantation. Chronic rejection can be mediated by either humoral or cellular mechanisms linked to memory/plasma cells and antibodies. The presence of tertiary lymphoid organs in the graft is a characteristic of this form of rejection.
MONDO:1060190	APP-related brain and vascular amyloidosis	A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage.
MONDO:1060191	ciliopathy-IFT74	Any ciliopathy caused by variants in the IFT74 gene.
MONDO:1060194	FAS-related autoimmune lymphoproliferative syndrome	An autoimmune lymphoproliferative syndrome that results from defective lymphocyte homoestasis, and is caused by variants in the FAS gene. It is characterized by non-malignant lymphoproliferation, autoimmune disease, and lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma.
MONDO:1060195	SH2B3-related immune system disorder	A predisposition caused by a mutation in SH2B3 gene that presents with myeloproliferation and/or multi-organ autoimmunity.

Terms renamed (excluding obsoleted terms): 6

ID	Old Label	New Label
MONDO:0018013	non-immunoglobulin-mediated membranoproliferative glomerulonephritis	complement 3 glomerulopathy
MONDO:0012398	retinal cone dystrophy 3A	achromatopsia 6
MONDO:0012727	mucocutaneous lymph node syndrome	Kawasaki disease
MONDO:0014306	vasculitis due to ADA2 deficiency	deficiency of adenosine deaminase 2
MONDO:0018146	idiopathic macular telangiectasia type 1	macular telangiectasia type 1
MONDO:0018147	idiopathic macular telangiectasia type 3	macular telangiectasia type 3

Text definitions added to existing terms: 4

Mondo ID	Label	New Text Definition
MONDO:0004919	infected hydrocele	A hydrocele that has active infection and inflammation of the fluid-filled sac surrounding a testicle, caused by microbial invasion, with clinical features such as pain, swelling, redness, or systemic signs of infection. The infection often arises from contiguous genitourinary or anorectal sources and is confirmed by microbiological evidence.
MONDO:0018013	complement 3 glomerulopathy	A rare primary membranoproliferative glomerulonephritis characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples.
MONDO:0012398	achromatopsia 6	Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive.
MONDO:0971179	arterial tortuosity-bone fragility syndrome	A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood.

Text definitions changed: 13

Mondo ID	Label	Old Text Definition	New Text Definition
MONDO:0004169	premenstrual tension	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
MONDO:0004813	tuberculous pneumothorax	A pneumothorax in which air enters into the pleural cavity.	A pneumothorax caused by tuberculosis infection, typically resulting from rupture of a cavitary tuberculous lesion into the pleural space.
MONDO:0005838	mansonelliasis	A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.	A parasitic infection caused by the nematode Mansonella, including M. ozzardi, M. perstans (Dipetalonema perstans), and M. streptocerca (Dipetalonema streptocerca). Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.
MONDO:0015746	male infertility due to globozoospermia	Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.	A male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida following intercourse or IVF thus fertilization fails. Fertilization efficiency is also very low following intracytoplasmic spem injection due to the absence of the oocyte activation factor protein PLCzeta.
MONDO:0009461	spermatogenic failure 5	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).	A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
MONDO:0010483	X-linked intellectual disability, Cantagrel type	X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at...

v2026-01-06

New terms: 14

Term
mirror-image polydactyly (MONDO:0700479)
semilobar holoprosencephaly (MONDO:0700419)
small plaque parapsoriasis (MONDO:1060188)
congenital trochlear nerve palsy (MONDO:0700463)
presynaptic congenital myasthenic syndrome (MONDO:0700466)
large plaque parapsoriasis (MONDO:1060189)
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (MONDO:0700478)
prenatal benign hypophosphatasia (MONDO:0700424)
hypomyelination neuropathy-arthrogryposis syndrome (MONDO:0700428)
idiopathic hypercalciuria (MONDO:0700418)
paraneoplastic sensory ganglionopathy (MONDO:0700416)
apolipoprotein A-I deficiency (MONDO:0700513)
anterior urethral valve (MONDO:0700447)
non-paraneoplastic sensory ganglionopathy (MONDO:0700415)

Terms renamed: 7

ID	Old Label	New Label
MONDO:0019123	continuous spikes and waves during sleep	obsolete continuous spikes and waves during sleep
MONDO:0957221	spastic paraplegia 70, autosomal recessive	obsolete spastic paraplegia 70, autosomal recessive
MONDO:0015597	pustulosis palmaris et plantaris	palmoplantar pustulosis
MONDO:0004762	Taylor syndrome	pelvic congestion syndrome
MONDO:0014213	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	CTCF-related neurodevelopmental disorder
MONDO:0700294	CTCF-related neurodevelopmental disorder	obsolete CTCF-related neurodevelopmental disorder
MONDO:0018773	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	obsolete autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Text definitions added: 18

Term	New Text Definition
pelvic congestion syndrome (MONDO:0004762)	A uterine disorder characterised by chronic pelvic pain caused by reflux or obstruction of the ovarian or pelvic veins, often associated with pelvic or vulvar varicosities.
myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133)	A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
large plaque parapsoriasis (MONDO:1060189)	A variant of parapsoriasis characterized by erythematous-to-brown patches or thin plaques with fine scales larger than 5cm in diameter. It has a substantial risk to evolve to mycosis fungoides.
thiamine-responsive dysfunction syndrome (MONDO:0000152)	A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.
apolipoprotein A-I deficiency (MONDO:0700513)	A lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
anterior urethral valve (MONDO:0700447)	A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.
idiopathic hypercalciuria (MONDO:0700418)	A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.
biotin-responsive basal ganglia disease (MONDO:0011841)	Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
mirror-image polydactyly (MONDO:0700479)	A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.
prenatal benign hypophosphatasia (MONDO:0700424)	A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
hypomyelination neuropathy-arthrogryposis syndrome (MONDO:0700428)	A rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (MONDO:0700478)	A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
semilobar holoprosencephaly (MONDO:0700419)	A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
palmoplantar pustulosis (MONDO:0015597)	A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.
obsolete sodium channelopathy-related small fiber neuropathy (MONDO:0017629)	OBSOLETE. A rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.
congenital trochlear nerve palsy (MONDO:0700463)	A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.
small plaque parapsoriasis (MONDO:1060188)	A variant of parapsoriasis characterized by round-to-oval plaques less than 5cm in diameter, and it rarely progresses.
CTCF-related neurodevelopmental disorder (MONDO:0014213)	A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

Text definitions changed: 4

Term	Old Text Definition	New Text Definition
parapsoriasis (MONDO:0006592)	Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, ...

v2025-12-02

New terms: 60

Term
rhabdomyolysis, susceptibility to (MONDO:0979250)
Houge-Janssens syndrome 4 (MONDO:0978293)
Nil-Deshwar neurodevelopmental syndrome (MONDO:0979246)
SCN5A-related cardiac rhythm disorder (MONDO:1010181)
fanconi anemia, complementation group 10 (MONDO:0979241)
retinal dystrophy, X-linked, Gardner-Hardcastle type (MONDO:0978292)
neurodevelopmental disorder with ataxia and brain abnormalities (MONDO:0978300)
spermatogenic failure 100 (MONDO:0978302)
cranioectodermal dysplasia 6 (MONDO:0979883)
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MONDO:0979249)
FICUS syndrome (MONDO:0978296)
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy (MONDO:0979226)
spermatogenic failure 99 (MONDO:0978297)
PPOX-related hepatic porphyria (MONDO:0700383)
maturity-onset diabetes of the young, type 12 (MONDO:0978299)
cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (MONDO:0979240)
spastic paraplegia 30A, autosomal dominant (MONDO:0700307)
combined oxidative phosphorylation deficiency 60 (MONDO:0978298)
developmental dysplasia of the hip 4 (MONDO:0979872)
porphyria, acute intermittent, nonerythroid variant (MONDO:0700384)
Ververi-Brady syndrome (MONDO:0979877)
oocyte/zygote/embryo maturation arrest 23 (MONDO:0979231)
brain small vessel disease 4 (MONDO:0979873)
developmental and epileptic encephalopathy 118 (MONDO:0979238)
brain small vessel disease 5 with osteoporosis (MONDO:0979880)
ICHAD syndrome (MONDO:0979234)
congenital myopathy 26 (MONDO:0979229)
oocyte/zygote/embryo maturation arrest 24 (MONDO:0979232)
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 (MONDO:0979867)
short-rib thoracic dysplasia 22 without polydactyly (MONDO:0979242)
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (MONDO:0979875)
autoimmune disease, multisystem, infantile-onset, 5 (MONDO:0979235)
immunodysregulation with variable immunodeficiency and autoimmunity (MONDO:0979233)
cardiomyopathy, dilated, 1QQ (MONDO:0979239)
Popov-Chang syndrome (MONDO:0979865)
retinitis pigmentosa 100 (MONDO:0979574)
oculovertebral syndrome (MONDO:0979866)
Li-Takada-Miyake syndrome (MONDO:0978303)
Diamond-Blackfan anemia 22 (MONDO:0979244)
intellectual developmental disorder, autosomal dominant 76 (MONDO:0979575)
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities (MONDO:0979245)
spermatogenic failure 101 (MONDO:0979572)
pulmonary hypertension, primary, 7 (MONDO:0979237)
HMBS-related hepatic porphyria (MONDO:0700382)
Guillouet-Gordon syndrome (MONDO:0979227)
retinitis pigmentosa 99 (MONDO:0978291)
LSM7-related leukodystrophy and cerebellar atrophy (MONDO:0978294)
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (MONDO:0978301)
craniofaciocardiohepatic syndrome (MONDO:0978295)
spastic paraplegia 18b, autosomal recessive (MONDO:0700309)
Wilms tumor 7 (MONDO:0979876)
spastic ataxia 11, autosomal dominant (MONDO:0979230)
cardiogenetic rhythm disorder (MONDO:1010180)
Alsahan-Harris syndrome (MONDO:0979871)
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy (MONDO:0979570)
exudative vitreoretinopathy 8 (MONDO:0979571)
cardiomyopathy, dilated, 2l (MONDO:0979236)
cardiomyopathy, familial hypertrophic, 31 (MONDO:0979573)
cardiomyopathy, dilated, 2M (MONDO:0979243)
ectodermal dysplasia 17 with or without limb malformations (MONDO:0979228)

Terms renamed: 4

ID	Old Label	New Label
MONDO:0971149	spastic paraplegia 30b, autosomal recessive	spastic paraplegia 30B, autosomal recessive
MONDO:0001859	algoneurodystrophy	obsolete algoneurodystrophy
MONDO:0859322	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1
MONDO:0060707	Ververi-Brady syndrome	Ververi-Brady syndrome 1

Text definitions added: 6

Term	New Text Definition
porphyria, acute intermittent, nonerythroid variant (MONDO:0700384)	A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme.
PPOX-related hepatic porphyria (MONDO:0700383)	A hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to <25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation.
MEGF10-related myopathy (MONDO:0013731)	A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
HMBS-related hepatic porphyria (MONDO:0700382)	A hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia.
SCN5A-related cardiac rhythm disorder (MONDO:1010181)	A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome.
cardiogenetic rhythm disorder (MONDO:1010180)	Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation.

Text definitions changed: 10

Term	Old Text Definition	New Text Definition
cutaneous porphyria (MONDO:0009902)	Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.	An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.
porphyria due to ALA dehydratase deficiency (MONDO:0013000)	An extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.	A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented.
intellectual disability, autosomal dominant 29 (MONDO:0014482)	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene....

v2025-11-04

New terms: 40

Term
GABRA4-related neurodevelopmental disorder with seizures (MONDO:0700358)
CDHR1-related retinopathy (MONDO:0700375)
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome (MONDO:0700354)
type 5 diabetes mellitus (MONDO:1010179)
PCCB-related propionic acidemia (MONDO:1060183)
TRA2B-related neurodevelopmental disorder (MONDO:0700364)
CFAP418-related ciliopathy (MONDO:0700374)
FEZF2-related neurodevelopmental disorder (MONDO:0700369)
ACTC1-related distal arthrogryposis with congenital heart disease (MONDO:0700352)
GUCA1A-related retinopathy (MONDO:0700376)
ARF3-related neurodevelopmental disorder (MONDO:0700366)
HDAC3-related neurodevelopmental disorder (MONDO:0700370)
WDR5-related neurodevelopmental disorder (MONDO:0700365)
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (MONDO:0700371)
WDPCP-related ciliopathy (MONDO:0700378)
KDM2B-related neurodevelopmental disorder (MONDO:0700363)
ATXN7L3-related developmental delay, hypotonia and facial dysmorphism (MONDO:0700355)
SDCCAG8-related ciliopathy (MONDO:0700379)
CBX1-related neurodevelopmental disorder (MONDO:0700367)
pediatric acute-onset neuropsychiatric syndrome (MONDO:1060178)
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity (MONDO:1060179)
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700362)
KCNK3-related developmental delay with sleep apnea (MONDO:0700360)
PCCA-related propionic acidemia (MONDO:1060182)
macular dystrophy, retinal, 5 (MONDO:0700381)
developmental and epileptic encephalopathy 119 (MONDO:1060177)
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition (MONDO:1060184)
AFG3L2-related optic atrophy and/or spastic ataxia spectrum (MONDO:0700372)
brain stem glioblastoma (MONDO:1060180)
EPB41L3-related developmental disorder with delayed myelination and seizures (MONDO:0700357)
DDX17-related neurodevelopmental disorder (MONDO:0700368)
FAM111A-related skeletal dysplasia (MONDO:1060172)
RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700361)
DIP2C-related developmental disorder with speech delay (MONDO:0700356)
systemic lupus erythematosus 18 (MONDO:1060185)
GABRD-related neurodevelopmental disorder with epilepsy (MONDO:0700359)
avoidant/restrictive food intake disorder (MONDO:7770002)
RHO-related retinopathy (MONDO:0700380)
NDP-related vitreoretinopathy (MONDO:0700377)
CNOT9-related developmental disorder with seizures (MONDO:0700353)

Terms renamed: 6

ID	Old Label	New Label
MONDO:0014391	severe combined immunodeficiency due to CTPS1 deficiency	combined immunodeficiency due to CTPS1 deficiency
MONDO:0001999	primary pulmonary hypertension	idiopathic pulmonary arterial hypertension
MONDO:0009935	pulmonary hypertension, primary, autosomal recessive	pulmonary hypertension, primary, 5
MONDO:0003537	precursor T-lymphoblastic lymphoma/leukemia	T lymphoblastic leukemia/lymphoma
MONDO:0035122	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	obsolete GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
MONDO:0017147	idiopathic pulmonary arterial hypertension	obsolete idiopathic pulmonary arterial hypertension

Text definitions added: 41

Term	New Text Definition
type 5 diabetes mellitus (MONDO:1010179)	Any diabetes mellitus caused by an inability of the pancreas to produce enough insulin due to underdeveloped pancreatic tissue resulting from prolonged undernutrition.
NDP-related vitreoretinopathy (MONDO:0700377)	Any vitreoretinopathy caused by a variant in the NDP gene, including cases diagnosed as Norrie disease or X-linked exudative vitreoretinopathy 2.
ARF3-related neurodevelopmental disorder (MONDO:0700366)	A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities.
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (MONDO:0700371)	Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
CFAP418-related ciliopathy (MONDO:0700374)	Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.
FAM111A-related skeletal dysplasia (MONDO:1060172)	Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene.
WDPCP-related ciliopathy (MONDO:0700378)	Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly.
systemic lupus erythematosus 18 (MONDO:1060185)	Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene.
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities (MONDO:0700362)	A neurodevelopmental disorder caused by variation in the RFX4 gene. This disorder is characterised by global developmental delay and/or intellectual disability, and behavioural abnormalities including documented autism spectrum disorder.
WDR5-related neurodevelopmental disorder (MONDO:0700365)	A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities.
RHO-related retinopathy (MONDO:0700380)	Any retinopathy caused by a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4.
avoidant/restrictive food intake disorder (MONDO:7770002)	An eating disorder characterized by avoidance or restriction of food intake due to one or more of the following: lack of interest in eating or food, sensitivity to sensory characteristics of food (such as taste, texture, smell, or appearance), or concern about aversive consequences of eating (such as choking or vomiting), resulting in persistent failure to meet appropriate nutritional and/or energy needs as manifested by significant weight loss, nutritional deficiency, dependence on enteral feeding or nutritional supplements, or marked interference with psychosocial functioning, and where the eating disturbance is not better explained by lack of available food, cultural or religious practices, another mental disorder, or a concurrent medical condition.
SDCCAG8-related ciliopathy (MONDO:0700379)	Any ciliopathy caused by variants in the SDCCAG8 gene, including cases diagnosed as Bardet-Biedl syndrome 16 or Senior-Loken syndrome 7.
GABRD-related neurodevelopmental disorder with epilepsy (MONDO:0700359)	A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities.
GUCA1A-related retinopathy (MONDO:0700376)	Any retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14.
GABRA4-related neurodevelopmental disorder with seizures (MONDO:0700358)	A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability.
DIP2C-related developmental disorder with speech delay (MONDO:0700356)	A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies.
CDHR1-related retinopathy (MONDO:0700375)	Any retinopathy caused by variants in the CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65.
brain stem glioblastoma (MONDO:1060180)	A glioblastoma localized in the brain stem.
DDX17-related neurodevelopmental disorder (MONDO:0700368)	A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities.
PCCB-related propionic acidemia (MONDO...

v2025-10-07

New terms: 27

Term
DNAJC21-related Shwachman Diamond syndrome (MONDO:0700311)
systemic lupus erythematosus related to C1S (MONDO:1060176)
combined immunodeficiency syndrome (MONDO:0700289)
diffuse midline glioma, H3 K27-altered (MONDO:1060171)
CHD7-related CHARGE syndrome (MONDO:1010178)
IRF4-related combined immunodeficiency (MONDO:1010173)
POLD3-related combined immunodeficiency (MONDO:1010176)
PTEN harmartoma tumor syndrome with immune disorder (MONDO:0700330)
NFATC1-related combined immunodeficiency (MONDO:1010174)
FASLG-related immunodeficiency (MONDO:0700306)
systemic lupus erythematosus related to C1QA (MONDO:1060174)
idiopathic pulmonary fibrosis (MONDO:0800504)
TREX1-related autosomal dominant Aicardi-Goutieres syndrome (MONDO:0700333)
HAVCR2-related cancer predisposition (MONDO:1060169)
IKZF2-related combined immunodeficiency (MONDO:1010177)
interstitial lung disease 2 (MONDO:0800497)
giant cell hepatitis with autoimmune hemolytic anemia (MONDO:1060166)
argyrophilic grain disease (MONDO:0700351)
POLD2-related combined immunodeficiency (MONDO:1010175)
ELANE-related neutropenia (MONDO:1060165)
IRF4-related immune disorder (MONDO:0700327)
complex movement disorder with or without neurodevelopmental features (MONDO:1060159)
FLNB-associated autosomal dominant filamin related bone disorder (MONDO:1060173)
TNFRSF9-related immunodeficiency (MONDO:0700308)
inherited distal renal tubular acidosis (MONDO:1060161)
acquired distal renal tubular acidosis (MONDO:1060162)
ACO2-related optic atrophy with or without extraocular features (MONDO:1060120)

Terms renamed: 14

ID	Old Label	New Label
MONDO:0970950	Rothmund-Thomson syndrome, type 4	Rothmund-Thomson syndrome type 4
MONDO:0014347	Rothmund-Thomson syndrome, type 3	Rothmund-Thomson syndrome type 3
MONDO:0004742	primary cerebellar degeneration	obsolete primary cerebellar degeneration
MONDO:0025303	anaplasmosis	obsolete anaplasmosis
MONDO:0003723	blunt duct adenosis of breast	obsolete blunt duct adenosis of breast
MONDO:0800460	ASAH1-related disorders	obsolete ASAH1-related disorders
MONDO:0006518	sporadic Creutzfeld Jacob disease	obsolete sporadic Creutzfeld Jacob disease
MONDO:0005118	human granulocytic ehrlichiosis	human granulocytic anaplasmosis
MONDO:0020474	cheirospondyloenchondromatosis	obsolete cheirospondyloenchondromatosis
MONDO:0800029	interstitial lung disease 2	obsolete interstitial lung disease 2
MONDO:0018603	SFTPC- related interstitial lung disease	SFTPC-related interstitial lung disease
MONDO:0000638	benign glioma	obsolete benign glioma
MONDO:0017770	Robinow-like syndrome	obsolete Robinow-like syndrome
MONDO:0002492	acute kidney failure	acute kidney injury

Text definitions added: 35

Term	New Text Definition
POLD3-related combined immunodeficiency (MONDO:1010176)	A combined immunodeficiency in which the cause of the disease is a variation in the POLD3 gene.
idiopathic pulmonary fibrosis (MONDO:0800504)	An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.
FLNB-associated autosomal dominant filamin related bone disorder (MONDO:1060173)	Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene.
argyrophilic grain disease (MONDO:0700351)	A tauopathy characterized pathologically by the presence of silver stain positive lesions called argyrophilic grains, oligodendrocytic coiled bodies, and neuronal tau-positive pretangles.
IKZF2-related combined immunodeficiency (MONDO:1010177)	A combined immunodeficiency syndrome in which the cause of the disease is a variation in the IKZF2 gene.
developmental delay with variable intellectual impairment and behavioral abnormalities (MONDO:0032745)	A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity.
neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (MONDO:0971172)	A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance.
TREX1-related autosomal dominant Aicardi-Goutieres syndrome (MONDO:0700333)	Autosomal dominant form of Aicardi-Goutieres syndrome 1.
ACCES syndrome (MONDO:0859262)	A rare congenital disease caused by a mutation in the UBA2 gene, charcterized by scalp defects, digital and skeletal anomalies, early growth deficiency, and neurodevelopmental delay. Ectrodactyly presents in some cases.
giant cell hepatitis with autoimmune hemolytic anemia (MONDO:1060166)	A rare autoimmune disease of early childhood, marked by the simultaneous or sequential immune attack on red blood cells and liver cells.
tumor predisposition syndrome 3 (MONDO:0014368)	Any hereditary cancer predisposition due to variation(s) in the POT1 gene, which confers a predisposition to development of various types of benign and malignant neoplasms.
complex movement disorder with or without neurodevelopmental features (MONDO:1060159)	A movement disorder characterized by having one or more different types of movement disorders, such as abnormal muscle tone, abnormal degree of movement, dystonia or torsion, which may occur with or without neurodevelopmental features, such as developmental delay or intellectual disability.
serpinopathy (MONDO:0027749)	Hereditary disease by a qualitative or quantitative deficiencies or overexpression and/or abnormal accumulation of SERPIN; SERPINs are members of the serpin (serine proteinase inhibitors) superfamily which includes proteins with serine protease inhibitor activity and some that do not exhibit this inhibitory activity against serine proteases.
POLD2-related combined immunodeficiency (MONDO:1010175)	A non-severe combined immunodeficiency due to polymerase delta deficiency in which the cause of the disease is a variation in the POLD2 gene.
FASLG-related immunodeficiency (MONDO:0700306)	An immunodeficiency disease in which the cause of the disease is a variation in the FASLG gene.
systemic lupus erythematosus related to C1S (MONDO:1060176)	Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1S gene.
DNAJC21-related Shwachman Diamond syndrome (MONDO:0700311)	A Shwachman Diamond syndrome in which the cause of the disease is a variation in the DNAJC21 gene.
interstitial lung disease 2 (MONDO:0800497)	An interstitial lung disease in which the cause of the disease is a variation in the SFTPA2 gene.
ACO2-related optic atrophy with or without extraocular features (MONDO:1060120)	An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
ELANE-related neutropenia (MONDO:1060165)	Any neutropenia in which the cause of the disease is a mutation in the ELANE gene.
IRF4-related immune disorder (MONDO:0700327)	An immune disorder in which the cause of the disease is a variation in the interferon activation domain of the IRF4 gene.
TNFRSF9-related immunodeficiency (MONDO:0700308)	An immunodeficiency disease in which the cause of the disease is a variation in the TNFRSF9 gene.
Shwachman-Diamond syndrome 1 (MONDO:0044204)	A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.
CHD7-related CHARGE syndrome (MONDO:1010178)	A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.
interstitial lung disease 1 (MONDO:0030608)	An interstitial lung disease in which the cause of the disease is a variation in the SFTPA1 gene.
systemic lupus erythematosus related to C1QA (MONDO:1060174)	Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QA gene.
inherited distal renal tubular acidosis (MONDO:1060161)	A form of distal renal tubular acidosis that is inherited.
IRF4-related combined immunodeficiency (MONDO:1010173)	A combined immunodeficiency in which the cause of the disease is a variation in the IRF4 gene.
acquired distal renal tubular acidosis (MONDO:1060162)	A form of distal renal tular acidosis that develops secondary to another condition, usually disease or drug.
combined immunodeficiency syndrome (MONDO:0700289)	A combined immunodeficiency in which other clinical features are present in other organ systems in add...

v2025-09-02

New terms: 12

Term
INTU-related skeletal ciliopathy (MONDO:1060154)
schizoaffective depressive disorder (MONDO:1060152)
FGFR2-related Pfeiffer syndrome (MONDO:1060147)
FGFR1-related Pfeiffer syndrome (MONDO:1060146)
retinitis pigmentosa 7, digenic (MONDO:1060144)
NOTCH1-related AOS spectrum disorder (MONDO:1060150)
schizoaffective bipolar disorder (MONDO:1060151)
multiple symmetric lipomatosis with partial lipodystrophy (MONDO:1060153)
Leber congenital amaurosis 18 (MONDO:1060145)
empty nose syndrome (MONDO:1060148)
ACAN-related short stature spectrum (MONDO:1060149)
GRIN2B-related complex neurodevelopmental disorder (MONDO:0700350)

Terms renamed: 10

ID	Old Label	New Label
MONDO:1060139	GRIN2A-related disorder	GRIN2A-related complex neurodevelopmental disorder
MONDO:0009826	PA polymorphism of alpha-2-globulin	obsolete PA polymorphism of alpha-2-globulin
MONDO:1060138	GRIN disorder	GRIN-related complex neurodevelopmental disorder
MONDO:0032756	long qt syndrome 8	long QT syndrome 8
MONDO:0011627	autism, susceptibility to, 5	intellectual developmental disorder with autism and speech delay
MONDO:0005104	aJCC grade 1 sarcoma	sarcoma G1
MONDO:0008150	osteoglophonic dwarfism	osteoglophonic dysplasia
MONDO:0007828	indifference to pain, congenital, autosomal dominant	obsolete indifference to pain, congenital, autosomal dominant
MONDO:1060123	GRIN1-related neurodevelopmental disorder	GRIN1-related complex neurodevelopmental disorder
MONDO:0032794	leber congenital amaurosis 19	Leber congenital amaurosis 19

Text definitions added: 20

Term	New Text Definition
retinitis pigmentosa 7, digenic (MONDO:1060144)	A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss.
schizoaffective depressive disorder (MONDO:1060152)	A schizoaffective disorder marked by episodes of only major depression.
multiple symmetric lipomatosis with partial lipodystrophy (MONDO:1060153)	A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene.
neuroocular syndrome 1 (MONDO:0971007)	A neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly.
congenital insensitivity to pain syndrome, Marsili type (MONDO:0958106)	A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.
pediatric arterial ischemic stroke (MONDO:0018585)	A rare ischemic disease characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue.
infertility due to extratesticular cause (MONDO:0001877)	A male infertility disorder caused by conditions external to the testis, such as hormonal imbalances, reproductive tract obstructions, or systemic illness.
orofaciodigital syndrome 17 (MONDO:0033375)	An orofaciodigital syndrome caused by a mutation in the INTU gene.
male infertility due to acephalic spermatozoa (MONDO:0035153)	A male infertility disorder characterized by defective sperm morphology, specifically the absence of the sperm head which prevents natural or assisted fertilization.
INTU-related skeletal ciliopathy (MONDO:1060154)	A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.
NOTCH1-related AOS spectrum disorder (MONDO:1060150)	A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects).
GRIN2B-related complex neurodevelopmental disorder (MONDO:0700350)	A complex neurodevelopmental disorder caused by a variation in the GRIN2B gene
empty nose syndrome (MONDO:1060148)	A rare iatrogenic disease characterized by paradoxical nasal obstruction and symptoms including air hunger and suffocation-like breathing sensation, nasal dryness and crusting, burning pain or cold airflow sensation, impaired sleep and cognitive function and severe anxiety and depression, and typically occurs after surgical reduction or removal of nasal turbinates.
intellectual developmental disorder with autism and speech delay (MONDO:0011627)	A neurodevelopmental disorder caused by the mutation in the TBR1 gene and characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.
ACAN-related short stature spectrum (MONDO:1060149)	A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type.
FGFR2-related Pfeiffer syndrome (MONDO:1060147)	Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR2 gene.
Leber congenital amaurosis 18 (MONDO:1060145)	A Leber congenital amaurosis that is caused by a variation in the PRPH2 gene.
FGFR1-related Pfeiffer syndrome (MONDO:1060146)	Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR1 gene.
schizoaffective bipolar disorder (MONDO:1060151)	A schizoaffective disorder marked by episodes of hypomania or mania and sometimes major depression.
Lichtenstein-Knorr syndrome (MONDO:0014572)	An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss.

Text definitions changed: 13

Term	Old Text Definition	New Text Definition
male infertility with teratozoospermia due to single gene mutation (MONDO:0018394)	Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
benign paroxysmal tonic upgaze of childhood with ataxia (MONDO:0008206)	Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
coccygodynia (MONDO:0022792)	Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for ...

v2025-08-05

New terms: 24

Term
GRIN2A-related self-limited epilepsy with centrotemporal spikes (MONDO:1060142)
atherosclerotic cardiovascular disease (MONDO:1060134)
equine juvenile spinocerebellar ataxia, FDXR-related, horse (MONDO:7770001)
GRIN disorder (MONDO:1060138)
adult hypophosphatasia (MONDO:1010154)
ocular growth disorder (MONDO:0100581)
BMPR1A-related juvenile polyposis syndrome (MONDO:0700348)
GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:1060140)
ARHGAP29-related non-syndromic orofacial cleft (MONDO:1060132)
infantile hypophosphatasia (MONDO:1010169)
SDHC-related Mitochondrial Disease (MONDO:0700347)
gallbladder disease 4 (MONDO:1010151)
PIK3R1-related immunodeficiency and SHORT syndrome (MONDO:1060136)
GRIN1-related neurodevelopmental disorder (MONDO:1060123)
CSF1R-related disorder (MONDO:0100632)
GRIN2A-related disorder (MONDO:1060139)
childhood hypophosphatasia (MONDO:1010168)
TMEM127-related tumor predisposition (MONDO:0700345)
exogenous Cushing syndrome (MONDO:1060126)
OFD1-related ciliopathy (MONDO:1040039)
BMP4-related ocular growth disorder (MONDO:0100613)
autosomal dominant nebulin-related myopathy (MONDO:1010152)
GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome (MONDO:1060141)
MAX-related tumor predisposition (MONDO:0700346)

Terms renamed: 97

ID	Old Label	New Label
MONDO:0032617	mitochondrial complex 1 deficiency, nuclear type 11	mitochondrial complex I deficiency, nuclear type 11
MONDO:0013602	paragangliomas 5	pheochromocytoma/paraganglioma syndrome 5
MONDO:0032622	mitochondrial complex 1 deficiency, nuclear type 17	mitochondrial complex I deficiency, nuclear type 17
MONDO:0027068	mitochondrial complex 1 deficiency, mitochondrial type 1	mitochondrial complex I deficiency, mitochondrial type 1
MONDO:0032909	mitochondrial complex 3 deficiency, nuclear type 10	mitochondrial complex III deficiency, nuclear type 10
MONDO:0032613	mitochondrial complex 1 deficiency, nuclear type 8	mitochondrial complex I deficiency, nuclear type 8
MONDO:0005259	Asperger syndrome	obsolete Asperger syndrome
MONDO:0016191	qualitative or quantitative defects of titin	neuromuscular disease caused by qualitative or quantitative defects of titin
MONDO:0700299	ACTH-independent macronodular adrenal hyperplasia-3	ACTH-independent macronodular adrenal hyperplasia 3
MONDO:0032608	mitochondrial complex 1 deficiency, nuclear type 3	mitochondrial complex I deficiency, nuclear type 3
MONDO:0033646	mitochondrial complex 4 deficiency, nuclear type 12	mitochondrial complex IV deficiency, nuclear type 12
MONDO:0011544	paragangliomas 3	pheochromocytoma/paraganglioma syndrome 3
MONDO:0032634	mitochondrial complex 1 deficiency, nuclear type 31	mitochondrial complex I deficiency, nuclear type 31
MONDO:0032619	mitochondrial complex 1 deficiency, nuclear type 14	mitochondrial complex I deficiency, nuclear type 14
MONDO:0016145	qualitative or quantitative defects of dysferlin	neuromuscular disease caused by qualitative or quantitative defects of dysferlin
MONDO:0032620	mitochondrial complex 1 deficiency, nuclear type 15	mitochondrial complex I deficiency, nuclear type 15
MONDO:0859761	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	obsolete SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
MONDO:0032771	paragangliomas 7	pheochromocytoma/paraganglioma syndrome 7
MONDO:0032632	mitochondrial complex 1 deficiency, nuclear type 28	mitochondrial complex I deficiency, nuclear type 28
MONDO:0030902	mitochondrial complex 1 deficiency, nuclear type 36	mitochondrial complex I deficiency, nuclear type 36
MONDO:0850090	fibrosis-neurodegeneration-cerebral angiomatosis syndrome	obsolete fibrosis-neurodegeneration-cerebral angiomatosis syndrome
MONDO:0016147	qualitative or quantitative defects of dystrophin	neuromuscular disease caused by qualitative or quantitative defects of dystrophin
MONDO:0033635	mitochondrial complex 4 deficiency, nuclear type 3	mitochondrial complex IV deficiency, nuclear type 3
MONDO:0859321	mitochondrial complex 3 deficiency, nuclear type 11	mitochondrial complex III deficiency, nuclear type 11
MONDO:0026721	mitochondrial complex 1 deficiency, nuclear type 30	mitochondrial complex I deficiency, nuclear type 30
MONDO:0016186	qualitative or quantitative defects of myofibrillar proteins	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins
MONDO:0032767	paragangliomas 6	pheochromocytoma/paraganglioma syndrome 6
MONDO:0032910	mitochondrial complex 1 deficiency, nuclear type 34	mitochondrial complex I deficiency, nuclear type 34
MONDO:0032629	mitochondrial complex 1 deficiency, nuclear type 25	mitochondrial complex I deficiency, nuclear type 25
MONDO:0032625	mitochondrial complex 1 deficiency, nuclear type 21	mitochondrial complex I deficiency, nuclear type 21
MONDO:0018823	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	obsolete X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
MONDO:0032627	mitochondrial complex 1 deficiency, nuclear type 23	mitochondrial complex I deficiency, nuclear type 23
MONDO:0016194	qualitative or quantitative defects of nebulin	neuromuscular disease caused by qualitative or quantitative defects of nebulin
MONDO:0020858	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5	mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
MONDO:0032623	mitochondrial complex 1 deficiency, nuclear type 18	mitochondrial complex I deficiency, nuclear type 18
MONDO:0032606	mitochondrial complex 1 deficiency, nuclear type 2	mitochondrial complex I deficiency, nuclear type 2
MONDO:0033653	mitochondrial complex 4 deficiency, nuclear type 18	mitochondrial complex IV deficiency, nuclear type 18
MONDO:0016195	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
MONDO:0033649	mitochondrial complex 4 deficiency, nuclear type 14	mitochondrial complex IV deficiency, nuclear type 14
MONDO:0016193	qualitative or quantitative defects of alpha-actin	neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
MONDO:0033639	mitochondrial complex 4 deficiency, nuclear type 10	mitochondrial complex IV deficiency, nuclear type 10
MONDO:0001389	congenital coronary artery anomaly	obsolete congenital coronary artery anomaly
MONDO:0033650	mitochondrial complex 4 deficiency, nuclear type 15	mitochondrial complex IV deficiency, nuclear type 15
MONDO:0018825	PYCR2-related microcephaly-progressive leukoencephalopathy	obsolete PYCR2-related microcephaly-progressive leukoencephalopathy
MONDO:0032628	mitochondrial complex 1 deficiency, nuclear type 24	mitochondrial complex I deficiency, nuclear type 24
MONDO:0032609	mitochondrial complex 1 deficiency, nuclear type 4	mitochondrial complex I deficiency, nuclear type 4
MONDO:0033645	mitochondrial complex 4 deficiency, nuclear type 11	mitochondrial complex IV deficiency, nuclear type 11
MONDO:0013266	intellectual disability, autosomal dominant 20	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
MONDO:0032636	mitochondrial complex 1 deficiency, nuclear type 33	mitochondrial complex I deficiency, nuclear type 33
MONDO:0859762	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	obsolete SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
MONDO:0018282	qualitative or quantitative defects of alpha-dystroglycan	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
MONDO:0032612	mitochondrial complex 1 deficiency, nuclear type 7	mitochondrial complex I deficiency, nuclear type 7
MONDO:0014091	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
MONDO:0017303	qualitative or quantitative defects of tropomyosin	neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
MONDO:0032624	mitochondrial complex 1 deficiency, nuclear type 19	mitochondrial complex I deficiency, nuclear type 19
MONDO:0013655	intellectual disability, autosomal dominant 8	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
MONDO:0032626	mitochondrial complex 1 deficiency, nuclear type 22	mitochondrial complex I deficiency, nuclear type 22
MONDO:0000066	mitochondrial complex deficiency	mitochondrial respiratory chain complex deficiency
MONDO:0032631	mitochondrial complex 1 deficiency, nuclear type 27	mitochondrial complex I deficiency, nuclear type 27
MONDO:0032635	mitochondrial complex 1 deficiency, nuclear type 32	mitochondrial complex I deficiency, nuclear type 32
MONDO:0032616	mitochondrial complex 1 deficiency, nuclear type 10	mitochondrial complex I...

v2025-07-01

New terms: 66

Term
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities (MONDO:0976265)
monilethrix-3 (MONDO:0700342)
B-lymphoblastic leukemia with MEF2D rearrangement (MONDO:0975862)
holoprosencephaly 10 (MONDO:0976262)
diarrhea 14, congenital (MONDO:0976266)
post 5-alpha-reductase inhibitors treatment syndrome (MONDO:0975897)
B-lymphoblastic leukemia with PAX5alt (MONDO:0975865)
acute myeloid leukemia with MNX1-ETV6 fusion (MONDO:0975871)
gastric duplication (MONDO:0971082)
acute myeloid leukemia with NPM1-MLF1 fusion (MONDO:0975872)
polycystic kidney disease 9, susceptibility to (MONDO:0976267)
colonic duplication (MONDO:0971084)
gallbladder duplication (MONDO:0971083)
vasa previa (MONDO:0971089)
pulmonary langerhans cell histiocytosis (MONDO:0975907)
fibrotic hypersensitivity pneumonitis (MONDO:0975896)
reticular dysgenesis-like severe combined immunodeficiency (MONDO:0975911)
ACTN2-related cardiac and skeletal myopathy (MONDO:0700349)
SPATA7-related retinopathy (MONDO:1040070)
MKS1-related ciliopathy (MONDO:1040068)
congenital high airway obstruction syndrome (MONDO:1060125)
ALG8-related autosomal dominant polycystic kidney and/or liver disease (MONDO:1060122)
B-lymphoblastic leukemia with TCF3-HLF fusion (MONDO:0975866)
single-system multifocal langerhans cell histiocytosis (MONDO:0975908)
10p15 microdeletion syndrome (MONDO:0975904)
adenoacanthoma (MONDO:1060121)
diarrhea 15, congenital (MONDO:0976268)
ARL6-related ciliopathy (MONDO:1040065)
Tayoun-Maawali syndrome (MONDO:0976286)
monilethrix-1 (MONDO:0700343)
isolated congenital cholesteatoma of the middle ear (MONDO:0975902)
neurodevelopmental disorder with white matter abnormalities and gait disturbance (MONDO:0976264)
CFAP46-related primary ciliary dyskinesia (MONDO:1010146)
COL4A1/A2-related disorder (MONDO:1010150)
multisystem langerhans cell histiocytosis (MONDO:0975909)
B-lymphoblastic leukemia with ZNF384 rearrangement (MONDO:0975867)
isolated congenital femoral bifurcation (MONDO:0971109)
neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (MONDO:0976263)
CEP164-related ciliopathy (MONDO:0700344)
non-fibrotic hypersensitivity pneumonitis (MONDO:0975895)
B-lymphoblastic leukemia with NUTM1 rearrangement (MONDO:0975864)
REEP6-related retinopathy (MONDO:1040066)
monilethrix-2 (MONDO:0700341)
KCNV2-related retinopathy (MONDO:1040063)
asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome (MONDO:0975918)
congenital disorder of glycosylation type 1EE with or without immunodeficiency (MONDO:0976261)
neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities (MONDO:0976285)
combined immunodeficiency due to TBX1 deficiency (MONDO:0975891)
acute myeloid leukemia with FUS-ERG fusion (MONDO:0975870)
B-lymphoblastic leukemia with MYC rearrangement (MONDO:0975863)
post-selective serotonin reuptake inhibitor sexual dysfunction (MONDO:0975898)
unifocal langerhans cell histiocytosis (MONDO:0975906)
adenoid ameloblastoma (MONDO:0975925)
small intestine duplication (MONDO:0971086)
acute myeloid leukemia with CBFA2T3-GLIS2 fusion (MONDO:0975868)
mesothelioma of the tunica vaginalis (MONDO:0975890)
CRX-related retinopathy (MONDO:1040064)
pyloric duplication (MONDO:0971085)
benign skeletal muscle neoplasm (MONDO:1010148)
splenic venous malformation (MONDO:0975910)
hypertrophic olivary degeneration (MONDO:0975885)
acquired hypothalamic obesity (MONDO:0975922)
intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome (MONDO:0975882)
cranioectodermal dysplasia 5 (MONDO:0976269)
10p13-p14 deletion syndrome (MONDO:0975905)
2q13 microdeletion syndrome (MONDO:0975887)

Terms renamed: 6

ID	Old Label	New Label
MONDO:0032854	zimmermann-laband syndrome 3	Zimmermann-Laband syndrome 3
MONDO:0017343	Epstein-Barr virus-associated malignant lymphoproliferative disorder	Epstein-Barr virus-associated lymphoproliferative disorder
MONDO:0013889	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	short stature-optic atrophy-Pelger-Huët anomaly syndrome
MONDO:0012128	transposition of the great arteries, dextro-looped	obsolete transposition of the great arteries, dextro-looped
MONDO:0021952	autoimmune progesterone dermatitis	progestogen hypersensitivity
MONDO:0009453	immune deficiency disease	obsolete immune deficiency disease

Text definitions added: 31

Term	New Text Definition
ALG8-related autosomal dominant polycystic kidney and/or liver disease (MONDO:1060122)	An autosomal dominant disease caused by variants in the ALG8 gene that is characterized by incomplete penetrance and a range of clinical manifestations, spanning from individuals with normal kidneys to those with numerous kidney cysts and chronic kidney disease (CKD). While the common presentation involves a limited number of kidney cysts and maintained kidney function, severe polycystic liver disease (PLD) with minimal kidney involvement (ADPLD) can also occur.
cysts and fistulae of the face and oral cavity (MONDO:0015476)	An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas.
maple bark strippers' lung (MONDO:0004584)	A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.
benign skeletal muscle neoplasm (MONDO:1010148)	A benign mesenchymal neoplasm arising from skeletal muscle tissue.
KCNV2-related retinopathy (MONDO:1040063)	Any retinopathy caused by variants in the KCNV2 gene.
Caroli syndrome (MONDO:0018808)	A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.
CRX-related retinopathy (MONDO:1040064)	Any retinopathy caused by a variant in the CRX gene.
nasal dorsum fistula/cyst (MONDO:0015410)	A rare otorhinolaryngologic disease characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.
ARL6-related ciliopathy (MONDO:1040065)	Any ciliopathy caused by variants in the ARL6 gene.
MKS1-related ciliopathy (MONDO:1040068)	Any ciliopathy caused by variants in the MKS1 gene.
REEP6-related retinopathy (MONDO:1040066)	Any retinopathy caused by variants in the REEP6 gene.
ACTN2-related cardiac and skeletal myopathy (MONDO:0700349)	A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase.
preauricular fistulae, congenital (MONDO:0007501)	A congenital disorder characterized by malformations of the external ear, which is caused by the first and second branchial arch dysplasia or the first branchial groove insufficiency in the embryonic stage.
CFAP46-related primary ciliary dyskinesia (MONDO:1010146)	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene.
adenoacanthoma (MONDO:1060121)	An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells.
non-syndromic anorectal malformation with rectourethral fistula, prostatic type (MONDO:0035783)	A congenital anorectal disorder characterized by the presence of a fistulous connection between the rectum and the prostatic urethra in the males, occuring in isolation without associated syndromic anomalies.
congenital systemic arteriovenous fistula (MONDO:0016078)	A rare, potentially life-threatening, vascular disease characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and inc...

v2025-06-03

New terms: 26

Term
HDAC4-related haploinsufficiency syndrome (MONDO:1060110)
SAMD9L-related spectrum and myeloid neoplasm risk (MONDO:1060111)
PIP5K1C-related neurodevelopmental disorder (MONDO:1010145)
PLD1-related congenital heart disease (MONDO:1010144)
CFTR-related metabolic syndrome (MONDO:0100627)
autism spectrum disorder 2 (MONDO:0100611)
CYP7B1-related disorder of oxysterol accumulation (MONDO:1060107)
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100626)
FDXR-related optic atrophy mitochondrial dysfunction syndrome (MONDO:1060116)
TUBB4B-related ciliopathy (MONDO:1060115)
developmental and epileptic encephalopathy (MONDO:0100620)
sleep-related hypermotor epilepsy (MONDO:0100631)
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder (MONDO:1060109)
congenital megaprepuce (MONDO:0700340)
meningitis-retention syndrome (MONDO:0100623)
MYCBP2-related developmental delay with corpus callosum defects (MONDO:1060117)
Lipschütz ulcer (MONDO:1060113)
SAMD9-related spectrum and myeloid neoplasm risk (MONDO:0100628)
autism spectrum disorder 1 (MONDO:0100610)
autism spectrum disorder 3 (MONDO:0100612)
childhood-onset dementia (MONDO:0100625)
KIF5A-related neurological disorder (MONDO:0100629)
DCTN1-related neurodegeneration (MONDO:0100624)
acquired developmental and epileptic encephalopathy (MONDO:0100621)
acquired sleep-related hypermotor epilepsy (MONDO:0100630)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (MONDO:1060108)

Nodes renamed: 15

ID	Old Label	New Label
MONDO:0007057	Acroosteolysis dominant type	acroosteolysis dominant type
MONDO:0800369	parkinson disease 19B, early-onset	Parkinson disease 19B, early-onset
MONDO:0957576	parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
MONDO:0000030	sleep-related hypermotor epilepsy	familial sleep-related hypermotor epilepsy
MONDO:0008691	zinc, elevated plasma	obsolete zinc, elevated plasma
MONDO:0100062	developmental and epileptic encephalopathy	genetic developmental and epileptic encephalopathy
MONDO:0007505	earring holes, natural	obsolete earring holes, natural
MONDO:0010360	parkinson disease 12	Parkinson disease 12
MONDO:0100079	developmental and epileptic encephalopathy, 6	developmental and epileptic encephalopathy, 6A
MONDO:0011737	parkinson disease 10	Parkinson disease 10
MONDO:0013167	parkinson disease 16	Parkinson disease 16
MONDO:0957426	autosomal recessive hyper-IgE syndrome	obsolete autosomal recessive hyper-IgE syndrome
MONDO:0035474	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
MONDO:0011220	parkinson disease 3, autosomal dominant	Parkinson disease 3, autosomal dominant
MONDO:0016022	early myoclonic encephalopathy	obsolete early myoclonic encephalopathy

Text definitions added: 41

Term	New Text Definition
multiple mitochondrial dysfunctions syndrome 9b (MONDO:0971174)	A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
myoclonus, intractable, neonatal (MONDO:0014979)	A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth.
CFTR-related metabolic syndrome (MONDO:0100627)	Any metabolic syndrome in which the cause of the disease is a variation in the CRTR gene. It is characterized in infants with hypertrypsinogenemia on newborn screening who have normal or intermediate sweat chloride values and 2 CFTR mutations, including at least one that is not known to cause cystic fibrosis (CF), and thus do not meet CF Foundation guidelines for the diagnosis of CF.
FDXR-related optic atrophy mitochondrial dysfunction syndrome (MONDO:1060116)	Any mitochondrial disorder in which the cause of the disease is a mutation in the FDXR gene.
autism spectrum disorder 3 (MONDO:0100612)	The most severe form of autism spectrum disorder, characterized by severe impairments in social communication and extreme restricted, repetitive behaviors, requiring very substantial support for daily functioning.
primary central sleep apnea syndrome (MONDO:0024356)	A central sleep apnea syndrome considered to be idiopathic. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.
childhood-onset dementia (MONDO:0100625)	Dementia beginning in childhood or adolescence. This term denotes a group of conditions that cause early-onset progressive neurocognitive decline.
PIP5K1C-related neurodevelopmental disorder (MONDO:1010145)	Any neurodevelopmental disorder in which the cause of the disease is a monoallelic gain-of-function variation in the PIP5K1C gene leading to increased levels of phosphatidylinositol 4,5 bisphosphate. This disorder is characterized by intellectual disability, motor and speech delay, microcephaly, seizures, visual and ocular abnormalities, and craniofacial dysmorphic features.
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder (MONDO:1060109)	A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (MONDO:1060108)	A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100626)	An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a "unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies.
CYP7B1-related disorder of oxysterol accumulation (MONDO:1060107)	Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.
DCTN1-related neurodegeneration (MONDO:0100624)	Any neurodegenerative disorder in which the cause of the disease is a mutation in the DCTN1 gene.
HDAC4-related haploinsufficiency syndrome (MONDO:1060110)	A disorder caused by haploinsufficiency of HDAC4 and is characterized by brachydactyly type E, variable mild to moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Individuals with the gain of functions variants typically do not have brachydactyly and do have more consistent intellectual disability.
SAMD9L-related spectrum and myeloid neoplasm risk (MONDO:1060111)	A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.
epilepsy syndrome (MONDO:0015650)	A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology.
central sleep apnea caused by high altitude (MONDO:0024360)	A central sleep apnea syndrome induced by sleeping at an altitude higher than 2000 m. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentratin...