15 research outputs found
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven\u27t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics
The Human Phenotype Ontology in 2024: phenotypes around the world.
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs
OpenVIVO: Transparency in Scholarship
OpenVIVO is a free and open-hosted semantic web platform that anyone can join and that gathers and shares open data about scholarship in the world. OpenVIVO, based on the VIVO open-source platform, provides transparent access to data about the scholarly work of its participants. OpenVIVO demonstrates the use of persistent identifiers, the automatic real-time ingest of scholarly ecosystem metadata, the use of VIVO-ISF and related ontologies, the attribution of work, and the publication and reuse of data—all critical components of presenting, preserving, and tracking scholarship. The system was created by a cross-institutional team over the course of 3 months. The team created and used RDF models for research organizations in the world based on Digital Science GRID data, for academic journals based on data from CrossRef and the US National Library of Medicine, and created a new model for attribution of scholarly work. All models, data, and software are available in open repositories
monarch-initiative/mondo: v2023-09-12
Overview:
Number of new terms: 379
Number of changed labels: 28
Number of changed definitions: 508
Number obsoleted terms: 6
Number of new obsoletion candidates: 236
Number of terms who were previously candidate for obsoletion and are now not anymore: 1
New terms
Mondo ID
Label
Definition
MONDO:0100524
ASAH1-related sphingolipidosis
A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.
MONDO:0100525
TCF7L2-related neurodevelopmental disorder
A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.
MONDO:0100526
breast-ovarian cancer, familial, susceptibility to
MONDO:0100527
dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
MONDO:0100528
Hao-Fountain syndrome due to 16p13.2 microdeletion
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
MONDO:0800448
leukoencephalopathy with vanishing white matter
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \foamy'' aspect."
MONDO:0957202
spermatogenic failure, X-linked, 7
MONDO:0957203
intellectual developmental disorder, X-linked 111
MONDO:0957204
autoinflammation with pulmonary and cutaneous vasculitis
MONDO:0957208
pituitary hormone deficiency, combined or isolated, 8
MONDO:0957210
neurooculorenal syndrome
MONDO:0957211
neurodegeneration and seizures due to copper transport defect
MONDO:0957215
congenital myopathy 20
MONDO:0957216
premature ovarian failure 21
MONDO:0957217
cortical dysplasia, complex, with other brain malformations 12
MONDO:0957218
neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
MONDO:0957220
oocyte/zygote/embryo maturation arrest 17
MONDO:0957221
spastic paraplegia 70, autosomal recessive
MONDO:0957224
congenital myopathy 21 with early respiratory failure
MONDO:0957225
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
MONDO:0957228
intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
MONDO:0957229
hatipoglu immunodeficiency syndrome
MONDO:0957230
oocyte/zygote/embryo maturation arrest 18
MONDO:0957231
oocyte/zygote/embryo maturation arrest 19
MONDO:0957240
cone-rod dystrophy 24
MONDO:0957247
congenital myopathy 22A, classic
MONDO:0957248
developmental and epileptic encephalopathy 31B
MONDO:0957249
spermatogenic failure 82
MONDO:0957250
spermatogenic failure 83
MONDO:0957252
ciliary dyskinesia, primary, 50
MONDO:0957253
diarrhea 13
MONDO:0957254
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
MONDO:0957255
mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
MONDO:0957260
combined low LDL and fibrinogen
MONDO:0957261
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
MONDO:0957262
osteopetrosis, autosomal recessive 9
MONDO:0957263
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
MONDO:0957264
cerebroretinal microangiopathy with calcifications and cysts 3
MONDO:0957265
congenital myopathy 22B, severe fetal
MONDO:0957266
RECON progeroid syndrome
MONDO:0957267
neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MONDO:0957268
hypersulfaturia
MONDO:0957270
muscular dystrophy, limb-girdle, autosomal recessive 28
MONDO:0957271
autoinflammatory disease, systemic, with vasculitis
MONDO:0957273
Charcot-Marie-Tooth disease, dominant intermediate A
MONDO:0957274
spastic paraplegia 89, autosomal recessive
MONDO:0957278
oocyte/zygote/embryo maturation arrest 20
MONDO:0957279
auditory neuropathy, autosomal dominant 2
MONDO:0957281
nemaline myopathy 5B, autosomal recessive, childhood-onset
MONDO:0957284
nemaline myopathy 5C, autosomal dominant
MONDO:0957288
intellectual developmental disorder, autosomal recessive 79
MONDO:0957294
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
MONDO:0957301
spermatogenic failure 84
MONDO:0957303
palmoplantar keratoderma, epidermolytic, 2
MONDO:0957307
woolly hair-skin fragility syndrome
MONDO:0957308
spastic paraplegia 90A, autosomal dominant
MONDO:0957309
spastic paraplegia 90B, autosomal recessive
MONDO:0957314
retinitis pigmentosa 97
MONDO:0957337
isolated chorioretinal dystrophy
MONDO:0957341
secondary early-onset glaucoma
MONDO:0957382
multiple mitochondrial dysfunctions syndrome 7
MONDO:0957385
dystonia 37, early-onset, with striatal lesions
MONDO:0957386
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
MONDO:0957388
autoimmune disease, multisystem, infantile-onset, 3
MONDO:0957396
ciliary dyskinesia, primary, 51
MONDO:0957397
intellectual developmental disorder, autosomal dominant 72
MONDO:0957403
periodic fever syndrome of childhood
MONDO:0957404
pyogenic autoinflammatory syndrome of childhood
MONDO:0957405
granulomatous autoinflammatory syndrome of childhood
MONDO:0957408
type 1 interferonopathy of childhood
MONDO:0957421
borna virus encephalitis
MONDO:0957423
immunotherapy induced hypophysitis
MONDO:0957426
autosomal recessive hyper-IgE syndrome
MONDO:0957427
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
MONDO:0957428
B-lymphoblastic leukemia/lymphoma with t(17;19)
MONDO:0957430
childhood-onset schizophrenia
MONDO:0957431
endogenous Cushing syndrome
MONDO:0957432
neonatal compartment syndrome
MONDO:0957433
primary pulmonary vein stenosis
MONDO:0957442
autosomal recessive ataxia due to PEX16 deficiency
MONDO:0957443
autosomal recessive ataxia due to PEX2 deficiency
MONDO:0957451
non-terminal myelocystocele
A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.
MONDO:0957452
segmental arterial mediolysis
MONDO:0957453
true myelomeningocele
A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).
MONDO:0957454
hemi-myelomeningocele
A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.
MONDO:0957456
classical dermatomyositis
MONDO:0957458
adermatopathic dermatomyositis
MONDO:0957459
congenital esophageal stenosis
MONDO:0957460
spontaneous intestinal perforation
MONDO:0957461
primary tuberculous lymphadenitis
MONDO:0957462
primary pulmonary tuberculosis
MONDO:0957463
primary bone and joint tuberculosis
MONDO:0957464
primary cutaneous tuberculosis
MONDO:0957465
multifocal tuberculosis
MONDO:0957466
primary tuberculosis of the digestive system
MONDO:0957467
primary genito-urinary tuberculosis
MONDO:0957473
craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
MONDO:0957476
isolated persistent urogenital sinus
MONDO:0957477
MYT1L-related developmental delay-intellectual disability-obesity syndrome
MONDO:0957481
idiopathic pregnancy-associated osteoporosis
MONDO:0957487
idiopathic catatonia
MONDO:0957494
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
MONDO:0957495
hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
MONDO:0957496
intellectual developmental disorder, X-linked 112
MONDO:0957497
disabling pansclerotic morphea of childhood
MONDO:0957530
breast-ovarian cancer, familial, susceptibility to, 5
MONDO:0957531
neurodevelopmental disorder with microcephaly and movement abnormalities
MONDO:0957533
megalencephalic leukoencephalopathy with subcortical cysts 3
MONDO:0957534
megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
MONDO:0957535
immunodeficiency 112
MONDO:0957536
intellectual developmental disorder, autosomal dominant 73
MONDO:0957537
combined oxidative phosphorylation deficiency 58
MONDO:0957538
amyotrophic lateral sclerosis 28
MONDO:0957539
dystonia 22, juvenile-onset
MONDO:0957540
congenital disorder of glycosylation, type IIaa
MONDO:0957541
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
MONDO:0957542
dystonia 22, adult-onset
MONDO:0957543
auriculocondylar syndrome 4
MONDO:0957544
auriculocondylar syndrome 2B
MONDO:0957545
cardiomyopathy, dilated, 2I
MONDO:0957556
congenital pulmonary vein atresia
MONDO:1010001
epilepsy, non-human animal
Epilepsy that occurs in non-human animals.
MONDO:1010002
myoclonus, non-human animal
Myoclonus that occurs in non-human animals.
MONDO:1010003
narcolepsy, non-human animal
Narcolepsy that occurs in non-human animals.
MONDO:1010004
paroxysmal dyskinesia, non-human animal
Paroxysmal dyskinesia that occurs in non-human animals.
MONDO:1010005
autism spectrum disorder, non-human animal
Autism spectrum disorder that occurs in non-human animals.
MONDO:1010006
Phelan-McDermid syndrome, non-human animal
Phelan-McDermid syndrome that occurs in non-human animals.
MONDO:1010007
subvalvular aortic stenosis, non-human animal
Subvalvular aortic stenosis that occurs in non-human animals.
MONDO:1010008
atherosclerosis, non-human animal
Atherosclerosis that occurs in non-human animals.
MONDO:1010009
atrial septal defect, non-human animal
Atrial septal defect that occurs in non-human animals.
MONDO:1010010
cardiomyopathy, non-human animal
Cardiomyopathy that occurs in non-human animals.
MONDO:1010011
dilated cardiomyopathy, non-human animal
Dilated cardiomyopathy that occurs in non-human animals.
MONDO:1010012
conotruncal heart malformations, non-human animal
Conotruncal heart malformations that occurs in non-human animals.
MONDO:1010013
cor triatriatum dexter, non-human animal
Cor triatriatum dexter that occurs in non-human animals.
MONDO:1010014
essential hypertension, non-human animal
Essential hypertension that occurs in non-human animals.
MONDO:1010015
hypertrophic cardiomyopathy, non-human animal
Hypertrophic cardiomyopathy that occurs in non-human animals.
MONDO:1010016
mitral valve stenosis, non-human animal
Mitral valve stenosis that occurs in non-human animals.
MONDO:1010017
patent ductus arteriosus, non-human animal
Patent ductus arteriosus that occurs in non-human animals.
MONDO:1010018
persistent truncus arteriosus, non-human animal
Persistent truncus arteriosus that occurs in non-human animals.
MONDO:1010019
arrhythmogenic right ventricular cardiomyopathy, non-human animal
Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.
MONDO:1010020
supravalvular aortic stenosis, non-human animal
Supravalvular aortic stenosis that occurs in non-human animals.
MONDO:1010021
tetralogy of fallot, non-human animal
Tetralogy of fallot that occurs in non-human animals.
MONDO:1010022
ventricular septal defect, non-human animal
Ventricular septal defect that occurs in non-human animals.
MONDO:1010023
patent ductus venosus, non-human animal
Patent ductus venosus that occurs in non-human animals.
MONDO:1010024
atrial fibrillation, non-human animal
Atrial fibrillation that occurs in non-human animals.
MONDO:1010025
Wolff-Parkinson-White syndrome, non-human animal
Wolff-Parkinson-White syndrome that occurs in non-human animals.
MONDO:1010026
Budd-Chiari syndrome, non-human animal
Budd-Chiari syndrome that occurs in non-human animals.
MONDO:1010027
endocardial fibroelastosis, non-human animal
Endocardial fibroelastosis that occurs in non-human animals.
MONDO:1010028
cerebral amyloid angiopathy, non-human animal
Cerebral amyloid angiopathy that occurs in non-human animals.
MONDO:1010031
triploidy, non-human animal
Triploidy that occurs in non-human animals.
MONDO:1010032
Jacobsen syndrome, non-human animal
Jacobsen syndrome that occurs in non-human animals.
MONDO:1010033
holoprosencephaly, non-human animal
Holoprosencephaly that occurs in non-human animals.
MONDO:1010034
cleft lip with or without cleft palate, non-human animal
Cleft lip with or without cleft palate that occurs in non-human animals.
MONDO:1010035
mandibulofacial dysostosis, non-human animal
Mandibulofacial dysostosis that occurs in non-human animals.
MONDO:1010036
frontonasal dysplasia, non-human animal
Frontonasal dysplasia that occurs in non-human animals.
MONDO:1010037
cleft palate, non-human animal
Cleft palate that occurs in non-human animals.
MONDO:1010038
gingival hypertrophy, non-human animal
Gingival hypertrophy that occurs in non-human animals.
MONDO:1010039
megacolon, non-human animal
Megacolon that occurs in non-human animals.
MONDO:1010040
pyloric stenosis, non-human animal
Pyloric stenosis that occurs in non-human animals.
MONDO:1010041
Meckel diverticulum, non-human animal
Meckel diverticulum that occurs in non-human animals.
MONDO:1010042
protein-losing enteropathy, non-human animal
Protein-losing enteropathy that occurs in non-human animals.
MONDO:1010043
cystic fibrosis, non-human animal
Cystic fibrosis that occurs in non-human animals.
MONDO:1010044
microvillus inclusion disease, non-human animal
Microvillus inclusion disease that occurs in non-human animals.
MONDO:1010045
diprosopus, non-human animal
Diprosopus that occurs in non-human animals.
MONDO:1010046
patent urachus, non-human animal
Patent urachus that occurs in non-human animals.
MONDO:1010047
spina bifida, non-human animal
Spina bifida that occurs in non-human animals.
MONDO:1010048
spina bifida occulta, non-human animal
Spina bifida occulta that occurs in non-human animals.
MONDO:1010049
acromegaly, non-human animal
Acromegaly that occurs in non-human animals.
MONDO:1010050
congenital adrenal hyperplasia, non-human animal
Congenital adrenal hyperplasia that occurs in non-human animals.
MONDO:1010051
diabetes insipidus, non-human animal
Diabetes insipidus that occurs in non-human animals.
MONDO:1010052
diabetes mellitus, non-human animal
Diabetes mellitus that occurs in non-human animals.
MONDO:1010053
familial goiter, non-human animal
Familial goiter that occurs in non-human animals.
MONDO:1010054
hyperparathyroidism, non-human animal
Hyperparathyroidism that occurs in non-human animals.
MONDO:1010055
hyperthyroidism, non-human animal
Hyperthyroidism that occurs in non-human animals.
MONDO:1010056
hypoparathyroidism, non-human animal
Hypoparathyroidism that occurs in non-human animals.
MONDO:1010057
congenital hypothyroidism, non-human animal
Congenital hypothyroidism that occurs in non-human animals.
MONDO:1010058
exocrine pancreatic insufficiency, non-human animal
Exocrine pancreatic insufficiency that occurs in non-human animals.
MONDO:1010059
thyroiditis, non-human animal
Thyroiditis that occurs in non-human animals.
MONDO:1010060
pheochromocytoma, non-human animal
Pheochromocytoma that occurs in non-human animals.
MONDO:1010061
hyperaldosteronism, non-human animal
Hyperaldosteronism that occurs in non-human animals.
MONDO:1010062
congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal
Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.
MONDO:1010063
congenital adrenal hypoplasia, non-human animal
Congenital adrenal hypoplasia that occurs in non-human animals.
MONDO:1010066
microcephaly, non-human animal
Microcephaly that occurs in non-human animals.
MONDO:1010067
omphalocele, non-human animal
Omphalocele that occurs in non-human animals.
MONDO:1010068
situs inversus, non-human animal
Situs inversus that occurs in non-human animals.
MONDO:1010069
autoimmune thrombocytopenia, non-human animal
Autoimmune thrombocytopenia that occurs in non-human animals.
MONDO:1010070
Chediak-Higashi syndrome, non-human animal
Chediak-Higashi syndrome that occurs in non-human animals.
MONDO:1010071
factor VII deficiency, non-human animal
Factor VII deficiency that occurs in non-human animals.
MONDO:1010072
factor X deficiency, non-human animal
Factor X deficiency that occurs in non-human animals.
MONDO:1010073
factor XI deficiency, non-human animal
Factor XI deficiency that occurs in non-human animals.
MONDO:1010074
factor XII deficiency, non-human animal
Factor XII deficiency that occurs in non-human animals.
MONDO:1010075
hemophilia B, non-human animal
Hemophilia B that occurs in non-human animals.
MONDO:1010076
hypereosinophilic syndrome, non-human animal
Hypereosinophilic syndrome that occurs in non-human animals.
MONDO:1010077
Pelger-Huet anomaly, non-human animal
Pelger-Huet anomaly that occurs in non-human animals.
MONDO:1010078
polycythemia, non-human animal
Polycythemia that occurs in non-human animals.
MONDO:1010079
prekallikrein deficiency, non-human animal
Prekallikrein deficiency that occurs in non-human animals.
MONDO:1010080
thrombocytopenia, non-human animal
Thrombocytopenia that occurs in non-human animals.
MONDO:1010081
autoimmune thrombocytopenic purpura, non-human animal
Autoimmune thrombocytopenic purpura that occurs in non-human animals.
MONDO:1010082
Evans syndrome, non-human animal
Evans syndrome that occurs in non-human animals.
MONDO:1010083
Scott Syndrome, non-human animal
Scott Syndrome that occurs in non-human animals.
MONDO:1010085
factor XIII deficiency, non-human animal
Factor XIII deficiency that occurs in non-human animals.
MONDO:1010086
myeloperoxidase deficiency, non-human animal
Myeloperoxidase deficiency that occurs in non-human animals.
MONDO:1010090
anotia, non-human animal
Anotia that occurs in non-human animals.
MONDO:1010091
microtia, non-human animal
Microtia that occurs in non-human animals.
MONDO:1010092
AA amyloidosis, non-human animal
AA amyloidosis that occurs in non-human animals.
MONDO:1010093
AL amyloidosis, non-human animal
AL amyloidosis that occurs in non-human animals.
MONDO:1010094
analphalipoproteinaemia, non-human animal
Analphalipoproteinaemia that occurs in non-human animals.
MONDO:1010095
citrullinemia, non-human animal
Citrullinemia that occurs in non-human animals.
MONDO:1010099
pyruvate kinase deficiency of erythrocyte, non-human animal
Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals.
MONDO:1010101
galactosemia, non-human animal
Galactosemia that occurs in non-human animals.
MONDO:1010102
porphyria cutanea tarda, non-human animal
Porphyria cutanea tarda that occurs in non-human animals.
MONDO:1010103
eclampsia, non-human animal
Eclampsia that occurs in non-human animals.
MONDO:1010104
trimethylaminuria (fishy taint), non-human animal
Trimethylaminuria (fishy taint) that occurs in non-human animals.
MONDO:1010105
pyruvate dehydrogenase deficiency, non-human animal
Pyruvate dehydrogenase deficiency that occurs in non-human animals.
MONDO:1010106
multiple acyl-coa dehydrogenase deficiency, non-human animal
Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.
MONDO:1010107
acute intermittent porphyria, non-human animal
Acute intermittent porphyria that occurs in non-human animals.
MONDO:1010109
dihydropyrimidinase deficiency, non-human animal
Dihydropyrimidinase deficiency that occurs in non-human animals.
MONDO:1010110
hyperphosphatemia, non-human animal
Hyperphosphatemia that occurs in non-human animals.
MONDO:1010113
glucocorticoid resistance, non-human animal
Glucocorticoid resistance that occurs in non-human animals.
MONDO:1010114
phenylketonuria, non-human animal
Phenylketonuria that occurs in non-human animals.
MONDO:1010115
c8 deficiency, non-human animal
C8 deficiency that occurs in non-human animals.
MONDO:10
Recommended from our members
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics
Recommended from our members
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics
Recommended from our members
The Human Phenotype Ontology in 2024: phenotypes around the world.
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs