matentzn
commented
3 years ago Hey @Antonialock
I just eyeballed 10 of them and they all, or at least the majority, of these terms will show up in the next release!
Closed Antonialock closed 3 years ago
matentzn
commented
3 years ago Hey @Antonialock
I just eyeballed 10 of them and they all, or at least the majority, of these terms will show up in the next release!
nicolevasilevsky
commented
3 years ago Yes, these will be available in the next release - I plan to do it on Wed this week.
Antonialock
commented
3 years ago thanks!
Hi,
for Uniprot release 2021-01 we require the following MONDO terms for mapping:
Not sure how the omim ingests work now on your end, so thought I'd raise this request. I have attached the DI defs after the table in case they are useful. There were a few odd terms that are shown in the monarch explorer, but they are only associated with the MIM ID and a DO ID - not sure why they don't have a MONDO ID? (these terms have a DOID in the comments field in the table below)
@nicolevasilevsky @matentzn
If helpful, here are the DI defs:
CREATED: DI-05918 ID Coenzyme Q10 deficiency, primary, 9. AC DI-05918 AR COQ10D9. DE A form of coenzyme Q10 deficiency, an autosomal recessive disorder DE with variable manifestations consistent with 5 major phenotypes. The DE phenotypes include an encephalomyopathic form with seizures and DE ataxia; a multisystem infantile form with encephalopathy, DE cardiomyopathy and renal failure; a predominantly cerebellar form with DE ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; DE and an isolated myopathic form. COQ10D9 patients show cerebellar DE ataxia with cerebellar atrophy. Additional features include DE generalized tonic-clonic seizures, and cognitive disability. Disease DE onset is in the first decade of life. DR MIM; 619028; phenotype. DR MedGen; CN283411. DR MeSH; D028361. KW KW-1274:Primary mitochondrial disease.
CREATED: DI-05920 ID Vissers-Bodmer syndrome. AC DI-05920 AR VIBOS. DE An autosomal dominant disorder characterized by global developmental DE delay, intellectual disability of varying degree, speech delay, motor DE delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle DE and soft tissue abnormalities are frequently observed. Many patients DE have behavioral problems, including anxiety, obsessive compulsive DE disorder, autism spectrum disorder and attention-deficit hyperactivity DE disorder. DR MIM; 619033; phenotype. DR MedGen; CN283412. DR MeSH; D065886. KW KW-0991:Mental retardation. KW KW-1268:Autism spectrum disorder.
CREATED: DI-05922 ID Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities. AC DI-05922 AR NEDSWMA. DE An autosomal recessive neurodevelopmental disorder characterized by DE developmental delay manifesting in infancy, inability to walk DE independently, mild to severe intellectual disability, poor overall DE growth, progressive microcephaly, and axial hypotonia. Additional DE variable features include brainstem and cerebellar involvement, DE seizures, joint contractures, ocular disturbances, episodic DE respiratory failure, and facial dysmorphism. DR MIM; 619026; phenotype. DR MedGen; CN283413. DR MeSH; D065886. KW KW-0991:Mental retardation. //
CREATED: DI-05923 ID Spastic paraplegia 83, autosomal recessive. AC DI-05923 AR SPG83. DE A form of spastic paraplegia, a neurodegenerative disorder DE characterized by a slow, gradual, progressive weakness and spasticity DE of the lower limbs. Rate of progression and the severity of symptoms DE are quite variable. Initial symptoms may include difficulty with DE balance, weakness and stiffness in the legs, muscle spasms, and DE dragging the toes when walking. In some forms of the disorder, bladder DE symptoms (such as incontinence) may appear, or the weakness and DE stiffness may spread to other parts of the body. SPG83 is DE characterized by juvenile onset of progressive lower limb spasticity DE resulting in gait instability. DR MIM; 619027; phenotype. DR MedGen; CN283414. DR MeSH; D015419. KW KW-0890:Hereditary spastic paraplegia. //
CREATED: DI-05924 ID Myopathy, epilepsy, and progressive cerebral atrophy. AC DI-05924 AR MEPCA. DE An autosomal recessive disorder characterized by severe, early lethal DE neurodegeneration, myasthenic and myopathic features, progressive DE cerebral atrophy with myelination defects, and intractable epilepsy. DR MIM; 619036; phenotype. DR MedGen; CN292948. DR MeSH; D065886. KW KW-0523:Neurodegeneration. KW KW-0887:Epilepsy. KW KW-0991:Mental retardation. //
CREATED: DI-05925 ID Myopathy, myofibrillar, 10. AC DI-05925 AR MFM10. DE A form of myofibrillar myopathy, a group of chronic neuromuscular DE disorders characterized at ultrastructural level by disintegration of DE the sarcomeric Z disk and myofibrils, and replacement of the normal DE myofibrillar markings by small dense granules, or larger hyaline DE masses, or amorphous material. MFM10 is an autosomal recessive DE disorder characterized by muscle pain, cramping, exercise fatigue, and DE progressive muscle rigidity. DR MIM; 619040; phenotype. DR MedGen; CN293343. DR MeSH; D020914. KW KW-0911:Desmin-related myopathy. //
CREATED: DI-05926 ID Spinal muscular atrophy, infantile, James type. AC DI-05926 AR SMAJI. DE An autosomal dominant form of spinal muscular atrophy, a group of DE neuromuscular disorders characterized by degeneration of the anterior DE horn cells of the spinal cord, leading to symmetrical muscle weakness DE and atrophy. SMAJI is a severe disease characterized by hypotonia DE manifesting in the first weeks or months of life, delayed motor DE development, motor regression, and muscle weakness and atrophy DE primarily affecting distal muscles. Additional variable features DE include feeding difficulties, poor overall growth, foot deformities, DE kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and DE respiratory insufficiency. DR MIM; 619042; phenotype. DR MedGen; CN293370. DR MeSH; D009134. KW KW-0523:Neurodegeneration. //
CREATED: DI-05927 ID Spermatogenic failure 44. AC DI-05927 AR SPGF44. DE An autosomal recessive infertility disorder caused by spermatogenesis DE defects and characterized by the presence of acephalic spermatozoa in DE the semen of affected individuals. DR MIM; 619044; phenotype. DR MedGen; CN293344. DR MeSH; D007248. //
CREATED: DI-05928 ID Mitochondrial complex IV deficiency, nuclear type 3. AC DI-05928 AR MC4DN3. DE An autosomal recessive mitochondrial disorder characterized by DE cytochrome c oxidase deficiency. Clinical features include muscle DE weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, DE delayed motor development, anemia, sensorineural hearing loss, and DE cardiomyopathy. DR MIM; 619046; phenotype. DR MedGen; CN293390. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05929 ID Mitochondrial complex IV deficiency, nuclear type 4. AC DI-05929 AR MC4DN4. DE An autosomal recessive mitochondrial disorder characterized by DE hypotonia, encephalopathy, metabolic acidosis, poor feeding, DE hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death DE occurs in infancy. Patient tissues show decreased levels and activity DE of mitochondrial respiratory complex IV. DR MIM; 619048; phenotype. DR MedGen; CN293391. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05930 ID Mitochondrial complex IV deficiency, nuclear type 7. AC DI-05930 AR MC4DN7. DE An autosomal recessive mitochondrial disorder characterized by DE encephalomyopathy resulting in variable clinical manifestations. DE Features include muscle weakness, gait disturbances, DE neurodegeneration, cognitive decline, metabolic acidosis, feeding DE difficulties, poor overall growth, cortical visual impairment, and DE hypertrophic cardiomyopathy. Serum lactate levels are increased. DE Patient tissues show decreased levels and activity of mitochondrial DE respiratory complex IV. DR MIM; 619051; phenotype. DR MedGen; CN293392. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05931 ID Mitochondrial complex IV deficiency, nuclear type 8. AC DI-05931 AR MC4DN8. DE An autosomal recessive mitochondrial disorder characterized by slowly DE progressive cognitive dysfunction, dystonia or visual impairment that DE appear after an uneventful early childhood. Additional features DE include gait difficulties, spasticity, dysarthria, hypotonia, and DE variable intellectual disability. Brain imaging shows white matter DE abnormalities in the basal ganglia. Serum lactate levels are DE increased. Patient tissues show decreased levels and activity of DE mitochondrial respiratory complex IV. DR MIM; 619052; phenotype. DR MedGen; CN293393. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05932 ID Mitochondrial complex IV deficiency, nuclear type 10. AC DI-05932 AR MC4DN10. DE An autosomal recessive mitochondrial disorder that manifests with DE neonatal neurological and respiratory distress. Clinical features DE include facial dysmorphism, hypotelorism, microphthalmia, an ogival DE palate, and severe metabolic acidosis. Death occurs in early infancy. DE Autoptic examination reveals brain hypertrophy, diffuse alteration of DE white matter myelination, numerous cavities in the parieto-occipital DE region, brainstem and cerebellum, as well as hepatomegaly, DE hypertrophic cardiomyopathy, renal hypoplasia, and adrenal DE hyperplasia. Patient tissues show decreased levels and activity of DE mitochondrial respiratory complex IV. DR MIM; 619053; phenotype. DR MedGen; CN293394. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05933 ID Mitochondrial complex IV deficiency, nuclear type 11. AC DI-05933 AR MC4DN11. DE An autosomal recessive mitochondrial disorder with onset in childhood DE or adolescence. MC4DN11 is characterized by walking difficulties, DE cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. DE Additional features may include sensory axonal neuropathy, cerebellar DE atrophy, and mild speech delay. Cognitive function is normal. Serum DE lactate levels are increased. Patient tissues show decreased levels DE and activity of mitochondrial respiratory complex IV. DR MIM; 619054; phenotype. DR MedGen; CN293395. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05934 ID Mitochondrial complex IV deficiency, nuclear type 12. AC DI-05934 AR MC4DN12. DE An autosomal recessive mitochondrial disorder with onset in early DE infancy. MC4DN12 features include poor overall growth, metabolic DE acidosis, profoundly delayed psychomotor development, seizures, DE hypotonia, and brain abnormalities. Death may occur in the first years DE of life. Serum lactate and creatine kinase levels are increased. DE Patient tissues show decreased levels and activity of mitochondrial DE respiratory complex IV. DR MIM; 619055; phenotype. DR MedGen; CN293396. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05935 ID Mitochondrial complex IV deficiency, nuclear type 14. AC DI-05935 AR MC4DN14. DE An autosomal recessive mitochondrial disorder with onset in early DE childhood. MC4DN14 is characterized by developmental delay, cognitive DE impairment, motor delay, abnormal gait, sensorimotor demyelinating DE polyneuropathy, exercise intolerance, obesity, and short stature. DE Serum lactate levels are marginally increased. Patient tissues show DE decreased levels and activity of mitochondrial respiratory complex IV. DR MIM; 619058; phenotype. DR MedGen; CN293397. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05936 ID Mitochondrial complex IV deficiency, nuclear type 15. AC DI-05936 AR MC4DN15. DE An autosomal recessive mitochondrial disorder with onset in infancy. DE MC4DN15 is characterized by global developmental delay, poor feeding, DE metabolic acidosis, short stature, microcephaly, proximal muscle DE weakness, and distal spasticity. Additional manifestations include DE scoliosis, primary pulmonary hypertension, refractory seizures, and DE inability to walk. Serum and CSF lactate levels are increased. Patient DE tissues show decreased levels and activity of mitochondrial DE respiratory complex IV. DR MIM; 619059; phenotype. DR MedGen; CN293384. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05937 ID Mitochondrial complex IV deficiency, nuclear type 16. AC DI-05937 AR MC4DN16. DE An autosomal recessive mitochondrial disorder with onset in infancy DE and variable manifestations. MC4DN16 features include feeding DE difficulties, poor overall growth, short stature, microcephaly, DE developmental regression, severe hypotonia, and seizures. Cerebral and DE cerebellar atrophy, and abnormal lesions in the basal ganglia can be DE observed on brain imaging. Patient tissues show decreased levels and DE activity of mitochondrial respiratory complex IV. DR MIM; 619060; phenotype. DR MedGen; CN293385. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05938 ID Mitochondrial complex IV deficiency, nuclear type 17. AC DI-05938 AR MC4DN17. DE An autosomal recessive mitochondrial disorder with highly variable DE clinical manifestations and severity. Clinical features vary from DE acute neurometabolic decompensation in late infancy to subtle DE neurological signs presenting in adolescence. Encephalopathic episodes DE are characterized by acute loss of developmental milestones including DE ability to walk or sit, loss of speech, episodes with somnolence and DE seizure, and pyramidal signs rapidly evolving into spastic DE tetraparesis. The clinical course subsequently tends to stabilize and DE in several subjects marked recovery of neurological milestones is DE observed over time. Brain imaging shows a cavitating leukodystrophy, DE predominantly involving the posterior cerebral white matter and the DE corpus callosum in the acute stage, after which the abnormalities DE partially improve and then stabilize. Patient tissues show variably DE decreased levels and activity of mitochondrial respiratory complex IV. DR MIM; 619061; phenotype. DR MedGen; CN293386. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05939 ID Mitochondrial complex IV deficiency, nuclear type 18. AC DI-05939 AR MC4DN18. DE An autosomal recessive, muscle-specific, mitochondrial disorder with DE onset in infancy. MC4DN18 is characterized by hypotonia, limb and DE facial muscle weakness, and high arched palate. Some patients have DE respiratory insufficiency at birth and cardiomyopathy. Patient DE skeletal muscle shows decreased levels and activity of mitochondrial DE respiratory complex IV. DR MIM; 619062; phenotype. DR MedGen; CN293387. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05940 ID Mitochondrial complex IV deficiency, nuclear type 19. AC DI-05940 AR MC4DN19. DE An autosomal recessive mitochondrial disorder with onset in infancy or DE early childhood. MC4DN19 is characterized by global developmental DE delay, impaired intellectual development, developmental regression, DE loss of acquired motor and language skills, and motor dysfunction. DE Patient tissues show decreased levels and activity of mitochondrial DE respiratory complex IV. DR MIM; 619063; phenotype. DR MedGen; CN293388. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05941 ID Mitochondrial complex IV deficiency, nuclear type 20. AC DI-05941 AR MC4DN20. DE An autosomal recessive mitochondrial disorder with onset in early DE infancy. MC4DN20 is characterized by pulmonary arterial hypertension, DE poor feeding, failure to thrive, hypotonia, delayed development, DE increased serum lactate and metabolic acidosis. Death in infancy DE occurs due to cardiorespiratory failure. Patient tissues show variably DE decreased levels and activity of mitochondrial respiratory complex IV. DR MIM; 619064; phenotype. DR MedGen; CN293389. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease. //
CREATED: DI-05942 ID Mitochondrial complex IV deficiency, nuclear type 21. AC DI-05942 AR MC4DN21. DE An autosomal recessive mitochondrial disorder with onset in infancy. DE MC4DN21 is characterized by congenital lactic acidosis, DE encephalopathy, global developmental delay, delayed speech, motor DE dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy, DE and seizures may also occur. Patient tissues show variably decreased DE levels and activity of mitochondrial respiratory complex IV. DR MIM; 619065; phenotype. DR MedGen; CN293398. DR MeSH; D017237. KW KW-1274:Primary mitochondrial disease.