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...

v2025-05-06

New terms: 18

Term
Fischer-Zirnsak progeroid syndrome (MONDO:0700301)
Erb palsy (MONDO:0700303)
aflatoxicosis (MONDO:0700296)
ACTH-independent macronodular adrenal hyperplasia-3 (MONDO:0700299)
glycogen storage disease IX (MONDO:0700291)
desmoplastic fibroma (MONDO:0700292)
leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical (MONDO:0700286)
isolated methylmalonic aciduria cblD type (MONDO:0700298)
achalasia-progeroid syndrome (MONDO:0700300)
WFS1-related disorder (MONDO:0700293)
carnitine palmitoyl transferase deficiency (MONDO:0700284)
homocystinuria-megaloblastic anemia cblD type (MONDO:0700297)
leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical (MONDO:0700295)
CTCF-related neurodevelopmental disorder (MONDO:0700294)
DMD-related muscular dystrophy (MONDO:0700285)
spermatogenic failure 98 (MONDO:0700290)
early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (MONDO:0700288)
variable age epilepsy syndrome (MONDO:0100619)

Terms renamed: 5

ID	Old Label	New Label
MONDO:0017287	IgG4-related disease	immunoglobulin G4-related sclerosing disease
MONDO:0007727	autosomal dominant familial periodic fever	TNF receptor 1-associated periodic fever syndrome
MONDO:0008814	hyperargininemia	arginase deficiency
MONDO:0100580	epilepsy, onset unknown	epilepsy, unknown whether focal or generalized
MONDO:0011382	sickle cell anemia	sickle cell disease

Text definitions added: 5

Term	New Text Definition
systemic lupus erythematosus 17 (MONDO:0859083)	Any systemic lupus erythematosus in which the cause of the disease is a variation in the TLR7 gene.
variable age epilepsy syndrome (MONDO:0100619)	An epilepsy syndrome that has an onset during variable ages and stages of life.
aflatoxicosis (MONDO:0700296)	A disease caused by consuming food or feed contaminated with aflatoxins.
Erb palsy (MONDO:0700303)	A palsy characterized by a paralysis of the arm caused by an injury to the upper group of the main nerves supplying it, specifically the upper trunk C5-C6 of the brachial plexus. Erb palsy most commonly, though not exclusively, arises as a result of an injury sustained during birth.
glycogen storage disease IX (MONDO:0700291)	A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.

Text definitions changed: 9

Term	Old Text Definition	New Text Definition
Crohn jejunitis (MONDO:0021207)	An Crohn disease involving a pathogenic inflammatory response in the jejunum.	A Crohn disease involving a pathogenic inflammatory response in the jejunum.
lentigo maligna melanoma (MONDO:0023619)	Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.	A skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.
amelanotic skin melanoma (MONDO:0005208)	A amelanotic melanoma that involves the zone of skin.	An amelanotic melanoma that involves the zone of skin.
Crohn disease of the esophagus (MONDO:0022901)	An Crohn disease involving a pathogenic inflammatory response in the esophagus.	A Crohn disease involving a pathogenic inflammatory response in the esophagus.
autosomal dominant Charcot-Marie-Tooth disease type 2M (MONDO:0016431)	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
toxic labyrinthitis (MONDO:0001874)	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicylic acid, amiodarone, quinine, cisplatin, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
perianal Crohn disease (MONDO:0005537)	An Crohn disease involving a pathogenic inflammatory response in the anal canal.	A Crohn disease involving a pathogenic inflammatory response in the anal region.
Crohn ileitis (MONDO:0000709)	An Crohn disease involving a pathogenic inflammatory response in the ileum.	A Crohn disease involving a pathogenic inflammatory response in the ileum.
small bowel Crohn disease (MONDO:0005539)	An Crohn disease involving a pathogenic inflammatory response in the small intestine.	A Crohn disease involving a pathogenic inflammatory response in the small intestine.

Terms obsoleted with replacement: 0

Term

Terms obsoleted without replacement: 0

Term

New obsoletion candidates: 3

Mondo ID	Label
MONDO:0010061	autosomal recessive cerebellar ataxia-blindness-deafness syndrome
MONDO:0014453	immunodeficiency 36
MONDO:0024360	central sleep apnea caused by high altitude

Terms that were previously candidate for obsoletion and are now not anymore: 0

Mondo ID	Label

v2025-04-01

New terms: 48

Term
ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608)
spondyloepimetaphyseal dysplasia, Li-Shao-Li type (MONDO:0976230)
neuronopathy, distal hereditary motor, autosomal dominant 15 (MONDO:0976226)
epilepsy, idiopathic generalized, susceptibility to, 19 (MONDO:0976128)
Perrault syndrome 7 (MONDO:0976232)
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (MONDO:0976131)
intestinal failure–associated liver disease (MONDO:0100615)
oocyte/zygote/embryo maturation arrest 22 (MONDO:0976137)
myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133)
Charcot-Marie-tooth disease, axonal, type 2JJ (MONDO:0976227)
neurodevelopmental disorder with progressive spasticity and brain abnormalities (MONDO:0976233)
immunodeficiency 132b (MONDO:0976228)
autosomal dominant syndromic intellectual disability (MONDO:0100601)
tubulointerstitial kidney disease, autosomal dominant 6 (MONDO:0976234)
neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment (MONDO:0976236)
TOR1AIP1-related multisystem disorder (MONDO:0100591)
COMP-related skeletal dysplasia (MONDO:0100593)
premature ovarian failure 26 (MONDO:0976129)
spermatogenic failure, X-linked, 9 (MONDO:0976123)
COL1A2-related Ehlers-Danlos syndrome (MONDO:0100606)
heterotaxy, visceral, 13, autosomal (MONDO:0976134)
leukodystrophy, demyelinating, adult-onset (MONDO:0976138)
FAT4-related neurodevelopmental disorder (MONDO:0100603)
heterotaxy, visceral, 14, autosomal (MONDO:0976135)
mitochondrial dna depletion syndrome 21 (MONDO:0976132)
intellectual developmental disorder with polymicrogyria and seizures (MONDO:0976124)
neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (MONDO:0976130)
POLR-related leukodystrophy (MONDO:0100605)
short stature with nonspecific skeletal abnormalities (MONDO:0975810)
HP:0031690
Muggenthaler-Chowdhury-Chioza syndrome (MONDO:0976127)
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination (MONDO:0976125)
ocular pterygium-digital keloid dysplasia syndrome (MONDO:0976136)
COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602)
ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609)
intellectual developmental disorder, autosomal recessive 83 (MONDO:0976231)
SLC26A2-related skeletal dysplasia (MONDO:0100592)
intellectual disability, autosomal recessive (MONDO:0100597)
COL1A2-related osteogenesis imperfecta (MONDO:0100596)
VPS11-related neurological disorder (MONDO:0100617)
ciliary dyskinesia, primary, 54 (MONDO:0100607)
autosomal recessive syndromic intellectual disability (MONDO:0100598)
immunodeficiency 131 (MONDO:0976229)
syndromic congenital heart disease (MONDO:0100614)
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (MONDO:0976126)
TOR1AIP1-related nuclear envelopathy (MONDO:0100604)
hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (MONDO:0100600)
COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599)

Terms renamed: 21

ID	Old Label	New Label
MONDO:0011897	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
MONDO:0970943	spermatogenic failure, x-linked, 8	spermatogenic failure, X-linked, 8
MONDO:0054833	charcot-marie-tooth disease, axonal, type 2DD	Charcot-Marie-tooth disease, axonal, type 2DD
MONDO:0010317	intellectual disability, X-linked, with or without seizures, arx-related	intellectual disability, X-linked, with or without seizures, ARX-related
MONDO:0013029	cerebellar ataxia type 9	spinocerebellar ataxia 9
MONDO:0100052	acetazolamide-responsive hereditary episodic ataxia	obsolete acetazolamide-responsive hereditary episodic ataxia
MONDO:0016163	autosomal dominant cerebellar ataxia type II	spinocerebellar ataxia 7
MONDO:0000414	childhood electroclinical syndrome	obsolete childhood electroclinical syndrome
MONDO:0006748	epilepsia partialis continua	obsolete epilepsia partialis continua
MONDO:0044263	obsolete lutheran suppressor, x-linked	obsolete lutheran suppressor, X-linked
MONDO:0020073	adolescent-onset epilepsy syndrome	obsolete adolescent-onset epilepsy syndrome
MONDO:0002125	status epilepticus	obsolete status epilepticus
MONDO:0000412	neonatal period electroclinical syndrome	obsolete neonatal period electroclinical syndrome
MONDO:0100036	variable-age onset epilepsy syndrome	obsolete variable-age onset epilepsy syndrome
MONDO:0040501	ehlers-danlos syndrome, arthrochalasia type, 2	Ehlers-Danlos syndrome, arthrochalasia type, 2
MONDO:0014551	short stature with nonspecific skeletal abnormalities	short stature with nonspecific skeletal abnormalities 1
MONDO:0958322	intellectual developmental disorder, x-linked, syndromic 37	intellectual developmental disorder, X-linked, syndromic 37
MONDO:0030869	spermatogenic failures 50	spermatogenic failure 50
MONDO:0000413	infancy electroclinical syndrome	obsolete infancy electroclinical syndrome
MONDO:0000595	sexual and gender identity disorders	sexual disorder
MONDO:0958200	intellectual developmental disorder, x-linked 113	intellectual developmental disorder, X-linked 113

Text definitions added: 23

Term	New Text Definition
TOR1AIP1-related nuclear envelopathy (MONDO:0100604)	A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function.
SLC26A2-related skeletal dysplasia (MONDO:0100592)	Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia.
COL1A2-related osteogenesis imperfecta (MONDO:0100596)	Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene.
autosomal dominant syndromic intellectual disability (MONDO:0100601)	Autosomal dominant form of syndromic intellectual disability.
syndromic congenital heart disease (MONDO:0100614)	Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions.
ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608)	Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene.
ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609)	Any hypophosphatasia in which the cause of the disease is an autosomal recessive loss-of-function in the ALPL gene.
COMP-related skeletal dysplasia (MONDO:0100593)	Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia.
inflammatory bowel disease 30 (MONDO:0033643)	An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599)	Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
intestinal failure–associated liver disease (MONDO:0100615)	Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features.
retinitis pigmentosa 93 (MONDO:0030797)	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene.
autosomal recessive syndromic intellectual disability (MONDO:0100598)	Autosomal recessive form of syndromic intellectual disability.
TOR1AIP1-related multisystem disorder (MONDO:0100591)	TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis.
COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602)	Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.
FAT4-related neurodevelopmental disorder (MONDO:0100603)	Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell traffic...

v2025-03-04

New terms: 71

Term
cerebral cavernous malformations 5 (MONDO:0975952)
congenital disorder of glycosylation, type 1DD (MONDO:0975846)
SNUPN-related muscular dystrophy with or without multi-system involvement (MONDO:0100584)
arthrogryposis multiplex congenita 7, X-linked (MONDO:0975826)
myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities (MONDO:0975797)
Jeune syndrome - GRK2-related (MONDO:0100583)
autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant (MONDO:0700338)
anemia, congenital dyserythropoietic, type IVb (MONDO:0975829)
FAM20B-congenital disorder of glycosylation (MONDO:0100588)
autoinflammation, panniculitis, and dermatosis syndrome (MONDO:0975955)
peritonitis (MONDO:1010128)
fibromatosis, gingival, 6 (MONDO:0975841)
foveal hypoplasia 3 (MONDO:0975805)
encephalopathy, acute transient (MONDO:0975801)
immunodeficiency 128 (MONDO:0975834)
telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature (MONDO:0975957)
neurodevelopmental disorder with variable familial hypercholanemia (MONDO:0975877)
retinitis pigmentosa 98 (MONDO:0975840)
spermatogenic failure 96 (MONDO:0975842)
sudden unexpected infant death (MONDO:1010116)
leukodystrophy, hypomyelinating, 28 (MONDO:0975833)
orofaciodigital syndrome 21 (MONDO:0975827)
Kariminejad neurodevelopmental syndrome (MONDO:0975795)
Pan-Chung-Bellen syndrome (MONDO:0975953)
epilepsy, onset unknown (MONDO:0100580)
bronchiectasis and nasal polyposis (MONDO:0975835)
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (MONDO:0975837)
immunodeficiency 127 (MONDO:0975832)
trichrome vitiligo (MONDO:1010122)
spastic paraplegia, mitochondrial (MONDO:0975951)
myoclonic epilepsy (MONDO:0100577)
loin pain hematuria syndrome (MONDO:1010111)
ALG10-congenital disorder of glycosylation (MONDO:0100589)
encapsulating peritoneal sclerosis (MONDO:1010131)
pancreatic agenesis 3 (MONDO:0975839)
myxedema coma (MONDO:1010100)
autoimmune disease with susceptibility to mycobacterium tuberculosis (MONDO:0975847)
spermatogenic failure 97 (MONDO:0975958)
GRHL3-related orofacial clefting (MONDO:0100579)
spinocerebellar ataxia 51 (MONDO:0975800)
methylmalonic aciduria and homocystinuria, cb1L type (MONDO:0975798)
brain malformation renal syndrome (MONDO:0975799)
X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018)
microphthalmia/coloboma 13 (MONDO:0975809)
Karayol-Borroto-Haghshenas neurodevelopmental syndrome (MONDO:0975836)
peritoneal carcinomatosis (MONDO:0700336)
furunculosis (MONDO:0100595)
renal tubular dysgenesis - ACE (MONDO:0700337)
premature ovarian failure 25 (MONDO:0975843)
myxedema heart disease (MONDO:1010108)
spastic paraplegia 93, autosomal recessive (MONDO:0975796)
sudden unexpected death in pediatrics (MONDO:1010120)
DNM1-encephalopathy and neurodevelopmental disorder (MONDO:0700339)
B3GALT6-congenital disorder of glycosylation (MONDO:0100586)
multiple mitochondrial dysfunctions syndrome 10 (MONDO:0975806)
TOR1AIP1-related myopathy (MONDO:0100582)
isolated short stature (MONDO:1010112)
basal ganglia calcification, idiopathic, 10, autosomal recessive (MONDO:0975875)
AARS1-related leukoencephalopathy (MONDO:1010132)
cholestasis, progressive familial intrahepatic, 13 (MONDO:0975807)
sudden unexplained death in childhood (MONDO:1010117)
FANCM Fanconi-like genomic instability disorder (MONDO:0100578)
intellectual developmental disorder, X-linked 114 (MONDO:0975828)
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (MONDO:0975830)
intellectual developmental disorder, autosomal dominant 75 (MONDO:0975838)
generalized vitiligo (MONDO:1010125)
A4GALT-congenital disorder of glycosylation (MONDO:0100587)
neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities (MONDO:0975874)
Morimoto-Ryu-Malicdan neuromuscular syndrome (MONDO:0975848)
congenital myopathy 25 (MONDO:0975808)
hemolytic uremic syndrome, atypical, susceptibility to, 7 (MONDO:0100590)

Terms renamed: 19

ID	Old Label	New Label
MONDO:0016676	recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	obsolete recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
MONDO:0042975	pseudoachondroplastic dysplasia 2	obsolete pseudoachondroplastic dysplasia 2
MONDO:0007037	Achondroplasia	achondroplasia
MONDO:0014912	infantile-onset periodic fever-panniculitis-dermatosis syndrome	autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
MONDO:0800112	non-atopic asthma	obsolete non-atopic asthma
MONDO:0015422	orofaciodigital syndrome type 13	obsolete orofaciodigital syndrome type 13
MONDO:0031047	stickler syndrome, IIa 6	Stickler syndrome, type 6
MONDO:0022577	Billet Bear syndrome	obsolete Billet Bear syndrome
MONDO:0009068	cytochrome-c oxidase deficiency disease	obsolete cytochrome-c oxidase deficiency disease
MONDO:0014376	intellectual disability, autosomal dominant 27	intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
MONDO:0859001	CPE-related Prader-Willi-like syndrome	obsolete CPE-related Prader-Willi-like syndrome
MONDO:0019804	tracheomalacia	congenital tracheomalacia
MONDO:0010760	XH antigen	obsolete XH antigen
MONDO:0018097	West syndrome	infantile spasms
MONDO:0016624	inherited deficiency anemia	hereditary anemia
MONDO:0004522	peritonitis	infectious peritonitis
MONDO:0025419	furunculosis	furunculosis, fish
MONDO:0030038	glaucoma, primary closed-angle	hereditary glaucoma, primary closed-angle
MONDO:0016542	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	IL10-related early-onset inflammatory bowel disease

Text definitions added: 31

Term	New Text Definition
myoclonic epilepsy (MONDO:0100577)	A group of epilepsy syndromes in which myoclonic seizures are a prominent feature.
Jeune syndrome - GRK2-related (MONDO:0100583)	A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.
mitochondrial complex IV deficiency, nuclear-type (MONDO:0033885)	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
furunculosis (MONDO:0100595)	A skin condition that is characterized by recurring furuncles, lesions primarily caused by Staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population.
encapsulating peritoneal sclerosis (MONDO:1010131)	A debilitating condition characterized by a fibrocollagenous membrane encasing the small intestine, resulting in recurrent small bowel obstructions.
peritoneal carcinomatosis (MONDO:0700336)	Cancer in which a carcinoma, usually of the digestive tract or female reproductive organs, has spread extensively throughout the peritoneum and causes tumors to grow on the peritoneum. Peritoneal carcinomatosis can happen in many types of cancer, but it is most common in people with cancers of the ovary, colon, rectum, stomach, pancreas, or appendix.
myxedema coma (MONDO:1010100)	A rare complication of hypothyroidism characterized by altered mental status, hypothermia, and symptoms related to the slowing of other organ systems.
TOR1AIP1-related myopathy (MONDO:0100582)	A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.
FANCM Fanconi-like genomic instability disorder (MONDO:0100578)	FANCM Fanconi-like genomic instability disorder is autosomal recessive condition associated with an increased risk of cancer, infertility, and hypersensitivity to cytotoxic agents.
renal tubular dysgenesis - ACE (MONDO:0700337)	Any renal tubular dysgenesis in which the cause of the disease is a mutation in the ACE gene.
myxedema heart disease (MONDO:1010108)	A rare complication of hypothyroidism characterized by unexplained heart failure refractory to conventional treatment.
epilepsy, onset unknown (MONDO:0100580)	An epilepsy in which the type of seizure onset is unknown or unclear, making it uncertain whether it is a generalized or focal epilepsy. Seizures of unknown onset may still have features that can be classified.
GRHL3-related orofacial clefting (MONDO:0100579)	Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene.
hemolytic uremic syndrome, atypical, susceptibility to, 7 (MONDO:0100590)	An inherited susceptibility or predisposition to developing immunoglobulin-mediated membranoproliferative glomerulonephritis.
B3GALT6-congenital disorder of glycosylation (MONDO:0100586)	Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.
DNM1-encephalopathy and neurodevelopmental disorder...