2023-12-18 EFO 3.61.0
·
150 commits
to master
since this release
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 |