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@sabrinatoro sabrinatoro released this 04 Jan 19:47
· 1600 commits to master since this release
v2023-01-04
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Overview:

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

New terms

Mondo ID Label Definition
MONDO:0100149 PNPLA6-related spastic paraplegia with or without ataxia An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.
MONDO:0100162 IKBKG-related immunodeficiency with or without ectodermal dysplasia Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).
MONDO:0100191 inherited kidney disorder A type of genetic disorder manifestations of primary clinical importance in the and that primarily results from alterations in one gene or from an alternation of the genome affecting one or more gene or functional element. Said genetic or genomic alteration may be inherited from one or both parents or may occur de novo.
MONDO:0100198 Mendelian encephalopathy An instance of encephalopathy that is caused by an inherited genomic modification in an individual.
MONDO:0100199 diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate
MONDO:0100200 microcephaly with intellectual disability Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.
MONDO:0100201 lumbar disc disease A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.
MONDO:0100202 lumbar disc herniation, susceptibility to
MONDO:0100206 lumbar disc degeneration, susceptibility to
MONDO:0100207 infantile-onset epilepsy Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.
MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene.
MONDO:0700044 TUBB2A-related tubulinopathy A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.
MONDO:0700045 protothecosis A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.
MONDO:0800296 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile
MONDO:0800298 peroxisome biogenesis disorder, complementation group 2
MONDO:0800299 myopathy, congenital, with excess of muscle spindles
MONDO:0800300 black locks with albinism and deafness syndrome
MONDO:0800301 Friedreich ataxia with retained reflexes
MONDO:0800302 glycogen storage disease Id
MONDO:0800303 hypophosphatasia, perinatal lethal
MONDO:0800304 neuropathy, hereditary sensory and autonomic, type IId
MONDO:0800305 myelofibrosis with myeloid metaplasia
MONDO:0800306 epilepsy, progressive myoclonic, 2b
MONDO:0800307 de la Chapelle dysplasia
MONDO:0800308 orotic aciduria without megaloblastic anemia
MONDO:0800310 pregnancy loss, recurrent, 4
MONDO:0800311 vas deferens, congenital unilateral aplasia of
MONDO:0800312 woolly hair, autosomal recessive 1, with or without hypotrichosis
MONDO:0800316 contiguous ABCD1/DXS1375E deletion syndrome
MONDO:0800317 premature ovarian failure 4
MONDO:0800318 Emery-dDeifuss muscular dystrophy 6, x-linked
MONDO:0800319 cone dystrophy 5, x-linked
MONDO:0800320 cone dystrophy 1, x-linked
MONDO:0800321 congenital heart defects, multiple types, 1, x-linked
MONDO:0800322 membranous obstruction of inferior vena cava
MONDO:0800323 long QT syndrome 4
MONDO:0800324 microphthalmia, isolated, with coloboma 8
MONDO:0800326 cone-rod dystrophy 14
MONDO:0800329 febrile seizures, familial, 3a
MONDO:0800330 myoclonic epilepsy, juvenile, 2
MONDO:0800331 hyperglycinemia, transient neonatal
MONDO:0800335 migraine, familial hemiplegic, 4
MONDO:0800337 acute tubulointerstitial nephritis
MONDO:0800339 laryngospasm, severe neonatal episodic
MONDO:0800340 seasonal affective disorder, susceptibility to
MONDO:0800341 cap myopathy 1
MONDO:0800342 cap myopathy 2
MONDO:0800343 rhegmatogenous retinal detachment, autosomal dominant
MONDO:0800344 brachydactyly-syndactyly-oligodactyly syndrome
MONDO:0800345 atrial fibrillation, familial, 17
MONDO:0800346 left ventricular noncompaction 9
MONDO:0800347 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
MONDO:0800349 atrial fibrillation, familial, 16
MONDO:0800350 left ventricular noncompaction 4
MONDO:0800408 urogenital adysplasia
MONDO:0800409 ventricular fibrillation during myocardial infarction, susceptibility to
MONDO:0800410 UV-induced skin damage, susceptibility to
MONDO:0800412 yakut short stature syndrome
MONDO:0800413 antisocial behavior, susceptibility to
MONDO:0800414 aplastic anemia, susceptibility to
MONDO:0800415 asthma, aspirin-induced, susceptibility to
MONDO:0800416 autism, susceptibility to, 1
MONDO:0800417 autism, susceptibility to, 4
MONDO:0800418 breast cancer, familial, susceptibility to, 1
MONDO:0800419 breast cancer, familial, susceptibility to, 2
MONDO:0800420 breast cancer, familial, susceptibility to, 3
MONDO:0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to
MONDO:0800422 cirrhosis, noncryptogenic, susceptibility to
MONDO:0800423 colorectal cancer, susceptibility to, 4
MONDO:0800424 colorectal cancer, susceptibility to, on chromosome 15
MONDO:0800425 coronary artery disease, severe, susceptibility to
MONDO:0800426 dengue fever, susceptibility to
MONDO:0800427 dengue hemorrhagic fever, susceptibility to
MONDO:0800428 dengue shock syndrome, susceptibility to
MONDO:0800429 dyslexia, susceptibility to, 4
MONDO:0800430 dyslexia, susceptibility to, 7
MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to
MONDO:0800432 obesity, susceptibility to
MONDO:0800433 ovarian cancer, familial, susceptibility to, 1
MONDO:0800434 ovarian cancer, familial, susceptibility to, 2
MONDO:0800435 ovarian cancer, familial, susceptibility to, 3
MONDO:0850030 complete hemimelia
MONDO:0850046 amniotic fluid embolism
MONDO:0850048 classic eosinophilic pustular folliculitis
MONDO:0850049 painful legs and moving toes syndrome
MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
MONDO:0850053 F12-associated cold autoinflammatory syndrome
MONDO:0850054 hemophilia B leyden
MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency
MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome
MONDO:0850064 inherited hematologic cancer-predisposing syndrome
MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
MONDO:0850066 SAMD9L-associated autoinflammatory syndrome
MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration
MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency
MONDO:0850070 CADINS disease
MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
MONDO:0850072 non-syndromic unisutural craniosynostosis
MONDO:0850073 non-syndromic unicoronal craniosynostosis
MONDO:0850074 non-syndromic unilambdoid craniosynostosis
MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis
MONDO:0850076 non-syndromic unisquamosal craniosynostosis
MONDO:0850077 non-syndromic multisutural craniosynostosis
MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis
MONDO:0850079 non-syndromic bilambdoid craniosynostosis
MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis
MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis
MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis
MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis
MONDO:0850084 non-syndromic pansynostosis
MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability
MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome
MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection
MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia
MONDO:0850097 autoimmune limbic encephalitis A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.
MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia
MONDO:0850100 body integrity dysphoria
MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies
MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies
MONDO:0850104 paraneoplastic isolated brainstem encephalitis
MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies
MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies
MONDO:0850107 postinfectious cerebellitis
MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies
MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies
MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0015335 Mendelian syndromes with cleft lip/palate orofacial clefting syndrome Mendelian syndromes with cleft lip/palate
MONDO:0007175 PR interval, variation in PR interval, variation 1N PR interval, variation in
MONDO:0007842 joint laxity, familial Ehlers-Danlos syndrome type 11 joint laxity, familial
MONDO:0008332 platelet-type von Willebrand disease pseudo-von Willebrand disease platelet-type von Willebrand disease
MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases X-linked Mendelian susceptibility to mycobacterial diseases
MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Grn-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
MONDO:0012249 Lynch syndrome 2 colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 2
MONDO:0013196 Lynch syndrome 8 colorectal cancer, hereditary nonpolyposis, type 8 Lynch syndrome 8
MONDO:0013699 Lynch syndrome 4 colorectal cancer, hereditary nonpolyposis, type 4 Lynch syndrome 4
MONDO:0013710 Lynch syndrome 5 colorectal cancer, hereditary nonpolyposis, type 5 Lynch syndrome 5
MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

Changed definitions

Mondo ID Label Previous release New release
MONDO:0000437 cerebellar ataxia A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.
MONDO:0007842 joint laxity, familial Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. A type of Ehlers-Danlos syndrome characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.
MONDO:0008332 platelet-type von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
MONDO:0015924 pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). A group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).
MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.
MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.
MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene. A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.
MONDO:0020071 infantile epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. An epilepsy syndrome that occurs between 28 days to one year of life.
MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene. A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.
MONDO:0100153 tubulinopathy A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia in which the cause of the disease is a variation in one or more of the tubulin genes. A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.
MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene. A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.

Obsolete terms

Mondo ID Label
MONDO:0001324 obsolete hyperandrogenism
MONDO:0007665 obsolete glaucoma 1, open angle, E
MONDO:0011222 obsolete glaucoma 1, open angle, D
MONDO:0011311 obsolete glaucoma 1, open angle, F
MONDO:0011704 obsolete glaucoma 1, open angle, B
MONDO:0012337 obsolete glaucoma 1, open angle, I
MONDO:0012357 obsolete glaucoma 1, open angle, G
MONDO:0012646 obsolete glaucoma 1, open angle, H
MONDO:0015522 obsolete situs ambiguus

New obsoletion candidates

Mondo ID Label
MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia

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

No changes.

Assets 21
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