Releases: EBISPOT/efo
2024-03-18 EFO 3.64.0
EFO 3.64.0 release includes the first phase in replacing response to and measurement terms with OBA trait terms for the GWAS Catalog. This release also includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 431
Number of classes added: 88
Number of classes deleted: 0
2024-02-15 EFO 3.63.0
EFO 3.63.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 115
Number of classes added: 475
Number of classes deleted: 1
What's Changed
- Added new metabolite terms by @ar-ibrahim in #2171
- Added metabolite terms (2) by @ar-ibrahim in #2172
- Obsoleted EFO term_diverticulitis by @ar-ibrahim in #2175
- Added seropositivity terms by @ar-ibrahim in #2177
- Remove leading spaces from synonyms by @bgyori in #2170
- EVA January 2024 import and updates after Mondo and HANCESTRO release… by @zoependlington in #2179
- Updated label, synonym and definition for #2169 by @zoependlington in #2181
- Added cell line terms for #2084 by @zoependlington in #2182
- EFO release 3.63.0 by @ar-ibrahim in #2183
Full Changelog: v3.62.0...v3.63.0
Contributors
Assets 8
2024-01-15 EFO 3.62.0
EFO 3.62.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 62
Number of classes added: 139
Number of classes deleted: 1
2023-12-18 EFO 3.61.0
EFO 3.61.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog. This release includes many new EFO terms to repleace obsolete Mondo terms used by Open Targets.
Number of classes changed: 2318
Number of classes added: 136
Number of classes deleted: 112
The following terms were obsoleted in Mondo and have been recreated in EFO. The Mondo term should have a replaced by link added in EFO to the new EFO term so this should not break pipelines.
| Obsoleted term ID | New ID | Term label |
|---|---|---|
| MONDO:0007607 | EFO:0700020 | Birt-Hogg-Dube syndrome |
| MONDO:0008406 | EFO:0700021 | autosomal recessive Emery-Dreifuss muscular dystrophy |
| MONDO:0010204 | EFO:0700022 | lysosomal acid lipase deficiency |
| MONDO:0013524 | EFO:0700023 | bleeding diathesis due to thromboxane synthesis deficiency |
| MONDO:0013742 | EFO:0700024 | familial mesial temporal lobe epilepsy with febrile seizures |
| MONDO:0014753 | EFO:0700025 | autosomal recessive optic atrophy |
| MONDO:0015088 | EFO:0700026 | autosomal dominant pure spastic paraplegia |
| MONDO:0015089 | EFO:0700027 | autosomal recessive complex spastic paraplegia |
| MONDO:0015111 | EFO:0700028 | gastroesophageal disease |
| MONDO:0015144 | EFO:0700029 | brain inflammatory disease |
| MONDO:0015246 | EFO:0700030 | syndromic anorectal malformation |
| MONDO:0015360 | EFO:0700031 | autosomal dominant hereditary axonal motor and sensory neuropathy |
| MONDO:0015361 | EFO:0700032 | autosomal recessive hereditary demyelinating motor and sensory neuropathy |
| MONDO:0015365 | EFO:0700033 | autosomal dominant hereditary sensory and autonomic neuropathy |
| MONDO:0015366 | EFO:0700034 | autosomal recessive hereditary sensory and autonomic neuropathy |
| MONDO:0015418 | EFO:0700035 | lateral facial cleft |
| MONDO:0015470 | EFO:0700036 | familial isolated dilated cardiomyopathy |
| MONDO:0015586 | EFO:0700037 | benign familial mesial temporal lobe epilepsy |
| MONDO:0015679 | EFO:0700038 | autosomal thrombocytopenia with normal platelets |
| MONDO:0015765 | EFO:0700039 | congenital myopathy with cores |
| MONDO:0015778 | EFO:0700040 | syndromic hypothyroidism |
| MONDO:0015822 | EFO:0700041 | acquired neutropenia |
| MONDO:0015823 | EFO:0700042 | primary immunodeficiency due to a defect in adaptive immunity |
| MONDO:0015915 | EFO:0700043 | cerebellar malformation |
| MONDO:0015921 | EFO:0700044 | ARX-related epileptic encephalopathy |
| MONDO:0016054 | EFO:0700045 | cerebral malformation |
| MONDO:0016121 | EFO:0700046 | congenital myotonia |
| MONDO:0016149 | EFO:0700047 | qualitative or quantitative defects of merosin |
| MONDO:0016152 | EFO:0700048 | qualitative or quantitative defects of calpain |
| MONDO:0016154 | EFO:0700049 | qualitative or quantitative defects of myotubularin |
| MONDO:0016169 | EFO:0700050 | chronic acquired demyelinating polyneuropathy |
| MONDO:0016224 | EFO:0700051 | autosomal dominant proximal spinal muscular atrophy |
| MONDO:0016355 | EFO:0700052 | semilobar holoprosencephaly |
| MONDO:0016409 | EFO:0700053 | primary congenital hypothyroidism |
| MONDO:0016520 | EFO:0700054 | isolated Klippel-Feil syndrome |
| MONDO:0016536 | EFO:0700055 | autosomal recessive lymphoproliferative disease |
| MONDO:0016589 | EFO:0700056 | progressive cerebello-cerebral atrophy |
| MONDO:0016599 | EFO:0700057 | autosomal dominant secondary polycythemia |
| MONDO:0016701 | EFO:0700058 | oligoastrocytic tumor |
| MONDO:0016726 | EFO:0700059 | neuronal tumor |
| MONDO:0016899 | EFO:0700060 | Duchenne and Becker muscular dystrophy |
| MONDO:0017049 | EFO:0700061 | hypomyelination neuropathy-arthrogryposis syndrome |
| MONDO:0017057 | EFO:0700062 | hereditary thrombocytopenia with normal platelets |
| MONDO:0017090 | EFO:0700063 | midline cerebral malformation |
| MONDO:0017131 | EFO:0700064 | hereditary cardiac anomaly |
| MONDO:0017132 | EFO:0700065 | hereditary ATTR amyloidosis |
| MONDO:0017146 | EFO:0700066 | sickle cell disease and related diseases |
| MONDO:0017173 | EFO:0700067 | non-syndromic male infertility due to sperm motility disorder |
| MONDO:0017218 | EFO:0700068 | septopreoptic holoprosencephaly |
| MONDO:0017234 | EFO:0700069 | inherited prion disease |
| MONDO:0017423 | EFO:0700070 | split hand or/and split foot malformation |
| MONDO:0017581 | EFO:0700071 | familial infantile gigantism |
| MONDO:0017629 | EFO:0700072 | sodium channelopathy-related small fiber neuropathy |
| MONDO:0017915 | EFO:0700073 | pure or complex autosomal recessive spastic paraplegia |
| MONDO:0017922 | EFO:0700074 | deafness-onychodystrophy syndrome |
| MONDO:0017950 | EFO:0700075 | microcephalic primordial dwarfism |
| MONDO:0018112 | EFO:0700076 | isolated scaphocephaly |
| MONDO:0018113 | EFO:0700077 | isolated plagiocephaly |
| MONDO:0018114 | EFO:0700078 | isolated brachycephaly |
| MONDO:0018144 | EFO:0700079 | congenital myasthenic syndromes with glycosylation defect |
| MONDO:0018188 | EFO:0700080 | hereditary intestinal polyposis |
| MONDO:0018241 | EFO:0700081 | primary short bowel syndrome |
| MONDO:0018246 | EFO:0700082 | homozygous 2p21 microdeletion syndrome |
| MONDO:0018262 | EFO:0700083 | fetal anticonvulsant syndrome |
| MONDO:0018277 | EFO:0700084 | congenital muscular dystrophy with cerebellar involvement |
| MONDO:0018279 | EFO:0700085 | congenital muscular dystrophy without intellectual disability |
| MONDO:0018283 | EFO:0700086 | primary qualitative or quantitative defects of alpha-dystroglycan |
| MONDO:0018340 | EFO:0700087 | hereditary isolated aplastic anemia |
| MONDO:0018393 | EFO:0700088 | male infertility with azoospermia or oligozoospermia due to single gene mutation |
| MONDO:0018451 | EFO:0700089 | X-linked distal hereditary motor neuropathy |
| MONDO:0018574 | EFO:0700090 | intellectual disability-expressive aphasia-facial dysmorphism syndrome |
| MONDO:0018575 | EFO:0700091 | microcephalic primordial dwarfism-insulin resistance syndrome |
| MONDO:0018701 | EFO:0700092 | congenital nemaline myopathy |
| MONDO:0018758 | EFO:0700093 | familial patent arterial duct |
| MONDO:0018775 | EFO:0700094 | axonal hereditary motor and sensory neuropathy |
| MONDO:0018782 | EFO:0700095 | type 1 interferonopathy |
| MONDO:0018788 | EFO:0700096 | COL4A1 or COL4A2-related cerebral small vessel disease |
| MONDO:0018831 | EFO:0700097 | HTRA1-related cerebral small vessel disease |
| MONDO:0018888 | EFO:0700098 | congenital cornea plana |
| MONDO:0018916 | EFO:0700099 | isolated anorectal malformation |
| MONDO:0019063 | EFO:0700100 | vascular anomaly |
| MONDO:0019126 | EFO:0700101 | intractable diarrhea of infancy |
| MONDO:0019150 | EFO:0700102 | familial isolated restrictive cardiomyopathy |
| MONDO:0019176 | EFO:0700103 | trichorhinophalangeal syndrome type I or III |
| MONDO:0019224 | EFO:0700104 | inborn disorder of gamma-aminobutyric acid metabolism |
| MONDO:0019486 | EFO:0700105 | myoclonic epilepsy of infancy |
| MONDO:0019505 | EFO:0700106 | hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
| MONDO:0019520 | EFO:0700107 | syndromic lymphedema |
| MONDO:0019541 | EFO:0700108 | non-infectious posterior uveitis |
| MONDO:0019599 | EFO:0700109 | primary lipodystrophy |
| MONDO:0019688 | EFO:0700110 | sulfation-related bone disorder |
| MONDO:0019693 | EFO:0700111 | multiple metaphyseal dysplasia |
| MONDO:0019718 | EFO:0700112 | lethal chondrodysplasia |
| MONDO:0019758 | EFO:0700113 | midline interhemispheric variant of holoprosencephaly |
| MONDO:0019800 | EFO:0700114 | chronic hepatic porphyria |
| MONDO:0020018 | EFO:0700115 | cranial malformation |
| MONDO:0020019 | EFO:0700116 | digestive tract malformation |
| MONDO:0020133 | EFO:0700117 | posterior fossa malformation |
| MONDO:0020145 | EFO:0700118 | developmental defect of the eye |
| MONDO:0020147 | EFO:0700119 | anophthalmia-microphthalmia syndrome |
| MONDO:0020148 | EFO:0700120 | syndromic aniridia |
| MONDO:0020164 | EFO:0700121 | epicanthal fold |
| MONDO:0020216 | EFO:0700122 | secondary dysgenetic glaucoma |
| MONDO:0020240 | EFO:0700123 | syndromic retinitis pigmentosa |
| MONDO:0020286 | EFO:0700124 | aortic malformation |
| MONDO:0020288 | EFO:0700125 | atrioventricular valve anomaly |
| MONDO:0020343 | EFO:0700126 | alpha-crystallinopathy |
| MONDO:0020345 | EFO:0700127 | presynaptic congenital myasthenic syndrome |
| MONDO:0020346 | EFO:0700128 | synaptic congenital myasthenic syndrome |
| MONDO:0020375 | EFO:0700129 | coralliform cataract |
| MONDO:0020506 | EFO:0700130 | ovarioleukodystrophy |
| MONDO:0020524 | EFO:0700131 | primary parathyroid hyperplasia |
| MONDO:0033947 | EFO:0700132 | hereditary angioedema with normal C1Inh |
| MONDO:0034024 | EFO:0700133 | kyphoscoliotic Ehlers-Danlos syndrome |
| MONDO:0034217 | EFO:0700134 | resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
| MONDO:0035162 | EFO:0700135 | PIK3CA-related overgrowth syndrome |
| MONDO:0100189 | EFO:0700136 | apolipoprotein A-I deficiency |
| MONDO:0800084 | EFO:0700137 | primary bone dysplasia with increased bone density |
| MONDO:0800086 | EFO:0700138 | primary bone dysplasia with multiple joint dislocations |
2023-11-15 EFO 3.60.0
EFO 3.60.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 116
Number of classes added: 961
Number of classes deleted: 0
2023-10-16 EFO 3.59.0
EFO 3.59.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 59
Number of classes added: 17
Number of classes deleted: 0
2023-09-18 EFO 3.58.0
EFO 3.58.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
PLEASE NOTE: HP:0000726 (Dementia) has been removed from EFO. Due to being an externally imported term we are not able to obsolete. Please use MONDO:0001627 (dementia) instead.
Number of classes changed: 400
Number of classes added: 153
Number of classes deleted: 1
2023-08-15 EFO 3.57.0
EFO 3.57.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 42
Number of classes added: 147
Number of classes deleted: 1
2023-07-17 EFO 3.56.0
EFO 3.56.0 release includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 0
Number of classes added: 3
Number of classes deleted: 0
2023-07-05 EFO 3.55.1
EFO 3.55.1 is a patch release adding many protein measurement terms imported from OBA required by GWAS Catalog. Alongside this are minor fixes improving QC.
Number of classes changed: 352
Number of classes added: 9780
Number of classes deleted: 18