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21 commits
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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 (MONDO:0700339) | A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene. |
| isolated short stature (MONDO:1010112) | A disease characterized by the height of an individual two standard deviations below the corresponding mean height for a given age, sex and population group with no known cause. |
| X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018) | A disorder that is transmitted via X-linked inheritance and involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations. |
| peritonitis (MONDO:1010128) | Inflammation of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen). |
| ALG10-congenital disorder of glycosylation (MONDO:0100589) | Any congenital disorder of glycosylation in which the cause of the disease is a mutation in ALG10. |
| SNUPN-related muscular dystrophy with or without multi-system involvement (MONDO:0100584) | A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present. |
| sudden unexpected infant death (MONDO:1010116) | The sudden unexpected death of an apparently healthy infant under one year of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, examination of the death scene, and review of the clinical history. |
| trichrome vitiligo (MONDO:1010122) | Any form of vitiligo characterized by a tan zone of varying width between normal and depigmented skin. This intermediate tan zone has more inflammatory cells, Langerhans cells, and melanophages than vitiliginous or normal skin. The number of melanocytes is greater than in vitiliginous skin but fewer than in normal skin. |
| A4GALT-congenital disorder of glycosylation (MONDO:0100587) | Any congenital disorder of glycosylation in which the cause of the disease is a mutation in A4GALT. |
| loin pain hematuria syndrome (MONDO:1010111) | A rare and debilitating renal pain disorder characterized by chronic, severe loin pain with or without micro- or macroscopic hematuria. |
| generalized vitiligo (MONDO:1010125) | Any form of vitiligo characterized by loss of pigment (depigmentation) in patches of skin all over the body. |
| FAM20B-congenital disorder of glycosylation (MONDO:0100588) | Any congenital disorder of glycosylation in which the cause of the disease is a mutation in FAM20B. |
| sudden unexpected death in pediatrics (MONDO:1010120) | Sudden death in children < 19 years of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death. |
| sudden unexplained death in childhood (MONDO:1010117) | The sudden unexpected death of a person age 1 to 18 years that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death. |
| neurodevelopmental disorder with cerebellar atrophy and with or without seizures (MONDO:0020841) | An an autosomal recessive disorder characterized by intellectual disability associated with ataxia, in which the cause of the disease is a variation in the BRAT1 gene. |
| AARS1-related leukoencephalopathy (MONDO:1010132) | Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene. |
Text definitions changed: 11
| Term | Old Text Definition | New Text Definition |
|---|---|---|
| Moynahan syndrome (MONDO:0008755) | A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. | A Mendelian disease characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. |
| obsolete Billet Bear syndrome (MONDO:0022577) | A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. | OBSOLETE. A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. |
| neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MONDO:0100095) | Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. | An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. |
| juvenile myoclonic epilepsy (MONDO:0009696) | Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). | The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). |
| IL10-related early-onset inflammatory bowel disease (MONDO:0016542) | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. | A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. |
| obsolete orofaciodigital syndrome type 13 (MONDO:0015422) | Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. | OBSOLETE. Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. |
| infantile spasms (MONDO:0018097) | West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. | A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome. |
| furunculosis, fish (MONDO:0025419) | A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. | A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In salmonid fish (salmonids), the pathogen is Aeromonas salmonicida. |
| neonatal-onset encephalopathy with rigidity and seizures (MONDO:0013784) | A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. | A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene. |
| Parkinson disease 13, autosomal dominant, susceptibility to (MONDO:0012466) | Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. | An inherited susceptibility or predisposition to developing young-onset Parkinson disease, in which the cause of the disease is a mutation in the HTRA2 gene. |
| tooth agenesis (MONDO:0005486) | A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. | A tooth disease characterized by failure to develop one or more missing teeth. |
Terms obsoleted with replacement: 5
| Term | Replacement |
|---|---|
| obsolete recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome (MONDO:0016676) | hyperzincemia with functional zinc depletion (MONDO:0011174) |
| obsolete non-atopic asthma (MONDO:0800112) | intrinsic asthma (MONDO:0004765) |
| obsolete cytochrome-c oxidase deficiency disease (MONDO:0009068) | mitochondrial complex IV deficiency, nuclear-type (MONDO:0033885) |
| obsolete XH antigen (MONDO:0010760) | PA polymorphism of alpha-2-globulin (MONDO:0009826) |
| obsolete CPE-related Prader-Willi-like syndrome (MONDO:0859001) | BDV syndrome (MONDO:0859150) |
Terms obsoleted without replacement: 3
| Term |
|---|
| obsolete Billet Bear syndrome (MONDO:0022577) |
| obsolete pseudoachondroplastic dysplasia 2 (MONDO:0042975) |
| obsolete orofaciodigital syndrome type 13 (MONDO:0015422) |
New obsoletion candidates: 10
| Mondo ID | Label |
|---|---|
| MONDO:0004742 | primary cerebellar degeneration |
| MONDO:0015547 | hereditary dementia |
| MONDO:0007505 | earring holes, natural |
| MONDO:0007828 | indifference to pain, congenital, autosomal dominant |
| MONDO:0009826 | PA polymorphism of alpha-2-globulin |
| MONDO:0018206 | childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| MONDO:0100503 | DPH5-related diphthamide-deficiency syndrome |
| MONDO:0859761 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome |
| MONDO:0859762 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome |
| MONDO:0957115 | neurological muscular channelopathy due to a genetic ryanodine receptor defect |
Terms that were previously candidate for obsoletion and are now not anymore : 1
| Mondo ID | Label |
|---|---|
| MONDO:0001868 | primary angle-closure glaucoma |