v2020-06-30

New Classes

• MONDO:0100120 vector-borne disease
• MONDO:0100135 Dravet syndrome
• MONDO:0100139 asymptomatic COVID-19 infection
• MONDO:0100140 mild COVID-19 infection
• MONDO:0100141 moderate COVID-19 infection
• MONDO:0100142 severe COVID-19 infection
• MONDO:0100143 critical COVID-19 infection

Obsoletions

• MONDO:0000312 enlarged vestibular aqueduct --> obsolete enlarged vestibular aqueduct
• MONDO:0002144 hyperuricemia (disease) --> obsolete hyperuricemia (disease)
• MONDO:0003794 mediastinal neurilemmoma --> obsolete mediastinal neurilemmoma
• MONDO:0011794 Dravet syndrome --> obsolete Dravet syndrome

Renaming

• MONDO:0000312 enlarged vestibular aqueduct --> obsolete enlarged vestibular aqueduct
• MONDO:0002144 hyperuricemia (disease) --> obsolete hyperuricemia (disease)
• MONDO:0003794 mediastinal neurilemmoma --> obsolete mediastinal neurilemmoma
• MONDO:0009191 Lowry-wood syndrome --> Lowry-Wood syndrome
• MONDO:0010916 polycystic kidney disease 3 --> polycystic kidney disease 3 with or without polycystic liver disease
• MONDO:0011010 Matthew-wood syndrome --> Matthew-Wood syndrome
• MONDO:0011794 Dravet syndrome --> obsolete Dravet syndrome
• MONDO:0018858 Graham little-Piccardi-Lassueur syndrome --> Graham Little-Piccardi-Lassueur syndrome
• MONDO:0020791 corneal dystrophy, meesmann, 1 --> corneal dystrophy, Meesmann, 1

v2020-06-01

New Classes

• MONDO:0020789 pseudo-TORCH syndrome 1
• MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1
• MONDO:0020791 corneal dystrophy, meesmann, 1
• MONDO:0020792 dwarfism with tall vertebrae
• MONDO:0100125 hallucinogen-persisting perception disorder
• MONDO:0100130 adult acute respiratory distress syndrome
• MONDO:0100131 pediatric acute respiratory distress syndrome

Obsoletions

• MONDO:0001012 breast fibroadenosis --> obsolete breast fibroadenosis
• MONDO:0010249 X-linked B cell surface antigen, mouse, homolog-like 1 --> obsolete X-linked B cell surface antigen, mouse, homolog-like 1
• MONDO:0013596 nonsyndromic congenital nail disorder 10 --> obsolete nonsyndromic congenital nail disorder 10
• MONDO:0015963 inherited renal tumor --> obsolete inherited renal tumor
• MONDO:0015966 hereditary eye tumor --> obsolete hereditary eye tumor
• MONDO:0015981 inherited gynecological tumor --> obsolete inherited gynecological tumor
• MONDO:0021062 hereditary acrokeratotic poikiloderma of Kindler-Weary --> obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary
• MONDO:0023310 hemiplegic migraine --> obsolete hemiplegic migraine
• MONDO:0023873 noonan-like/multiple giant cell lesion syndrome --> obsolete Noonan-like/multiple giant cell lesion syndrome
• MONDO:0024597 CD3epsilon deficiency --> obsolete CD3epsilon deficiency

Renaming

• MONDO:0001012 breast fibroadenosis --> obsolete breast fibroadenosis
• MONDO:0001627 dementia --> dementia (disease)
• MONDO:0006502 adult respiratory distress syndrome --> acute respiratory distress syndrome
• MONDO:0008319 protoporphyria, erythropoietic --> protoporphyria, erythropoietic, 1
• MONDO:0010249 X-linked B cell surface antigen, mouse, homolog-like 1 --> obsolete X-linked B cell surface antigen, mouse, homolog-like 1
• MONDO:0013596 nonsyndromic congenital nail disorder 10 --> obsolete nonsyndromic congenital nail disorder 10
• MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome --> Schuurs-Hoeijmakers syndrome
• MONDO:0015023 nemaline myopathy 11 --> MYPN-related myopathy
• MONDO:0015653 monogenic disease with epilepsy --> monogenic epilepsy
• MONDO:0015951 genetic photodermatosis --> hereditary photodermatosis
• MONDO:0015963 inherited renal tumor --> obsolete inherited renal tumor
• MONDO:0015966 hereditary eye tumor --> obsolete hereditary eye tumor
• MONDO:0015981 inherited gynecological tumor --> obsolete inherited gynecological tumor
• MONDO:0021062 hereditary acrokeratotic poikiloderma of Kindler-Weary --> obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary
• MONDO:0023310 hemiplegic migraine --> obsolete hemiplegic migraine
• MONDO:0023873 noonan-like/multiple giant cell lesion syndrome --> obsolete Noonan-like/multiple giant cell lesion syndrome
• MONDO:0024597 CD3epsilon deficiency --> obsolete CD3epsilon deficiency
• MONDO:0025481 zoonoses --> zoonosis
• MONDO:0026733 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type --> intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type
• MONDO:0032668 diamond-blackfan anemia 18 --> Diamond-Blackfan anemia 18
• MONDO:0032669 diamond-blackfan anemia 19 --> Diamond-Blackfan anemia 19
• MONDO:0032670 diamond-blackfan anemia 20 --> Diamond-Blackfan anemia 20
• MONDO:0032791 coffin-siris syndrome 10 --> Coffin-Siris syndrome 10
• MONDO:0032793 o'donnell-luria-rodan syndrome --> O'Donnell-Luria-Rodan syndrome
• MONDO:0032841 usher syndrome, type 1m --> Usher syndrome, type 1M
• MONDO:0032882 heyn-sproul-jackson syndrome --> Heyn-Sproul-Jackson syndrome
• MONDO:0032885 spondyloepimetaphyseal dysplasia, isidor-toutain type --> spondyloepimetaphyseal dysplasia, Isidor-Toutain type
• MONDO:0032886 liang-wang syndrome --> Liang-Wang syndrome
• MONDO:0032889 poirier-bienvenu neurodevelopmental syndrome --> Poirier-Bienvenu neurodevelopmental syndrome
• MONDO:0032901 catifa syndrome --> Catifa syndrome
• MONDO:0032902 joubert syndrome 36 --> Joubert syndrome 36
• MONDO:0032904 corneal dystrophy, meesmann, 2 --> corneal dystrophy, Meesmann, 2
• MONDO:0032908 cebalid syndrome --> CEBALID syndrome
• MONDO:0032912 coffin-siris syndrome 11 --> Coffin-Siris syndrome 11
• MONDO:0032915 long qt syndrome 16 --> long QT syndrome 16
• MONDO:0032916 imagawa-matsumoto syndrome --> Imagawa-Matsumoto syndrome
• MONDO:0032922 beck-fahrner syndrome --> Beck-Fahrner syndrome
• MONDO:0044309 diamond-blackfan anemia 16 --> Diamond-Blackfan anemia 16
• MONDO:0044310 diamond-blackfan anemia 17 --> Diamond-Blackfan anemia 17
• MONDO:0054588 noonan syndrome-like disorder with loose anagen hair 2 --> Noonan syndrome-like disorder with loose anagen hair 2
• MONDO:0100101 Fetal akinesia deformation sequence 1 --> fetal akinesia deformation sequence 1
• MONDO:0100102 Fetal akinesia deformation sequence 2 --> fetal akinesia deformation sequence 2
• MONDO:0100103 Fetal akinesia deformation sequence 3 --> fetal akinesia deformation sequence 3
• MONDO:0100104 Fetal akinesia deformation sequence 4 --> fetal akinesia deformation sequence 4

v2020-04-29

Summary

• 393 new classes
• 43 classes were obsoleted
• 64 classes were renamed

New Classes

• MONDO:0020753 Orthocoronavirinae infectious disease
• MONDO:0020754 visceral myopathy
• MONDO:0020756 migraine, familial hemiplegic, 1
• MONDO:0020757 sporadic hemiplegic migraine
• MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1
• MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2
• MONDO:0020763 Menke-Hennekam syndrome 1
• MONDO:0020765 neuropathy, congenital hypomyelinating, 2
• MONDO:0020766 neuropathy, congenital hypomyelinating, 3
• MONDO:0020768 X-linked deafness
• MONDO:0020769 Menke-Hennekam syndrome 2
• MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
• MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
• MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1
• MONDO:0020774 Menke-Hennekam syndrome
• MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1
• MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2
• MONDO:0020778 cone-rod dystrophy and hearing loss 1
• MONDO:0020780 cone-rod dystrophy and hearing loss 2
• MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
• MONDO:0020783 capillary malformation-arteriovenous malformation 1
• MONDO:0020784 obsolete short sleep, familial natural, 1
• MONDO:0020785 capillary malformation-arteriovenous malformation 2
• MONDO:0020786 obsolete short sleep, familial natural, 2
• MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1
• MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2
• MONDO:0024182 dry beriberi
• MONDO:0024183 wet beriberi
• MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12
• MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30
• MONDO:0026722 Mullegama-Klein-Martinez syndrome
• MONDO:0026723 intellectual developmental disorder, X-linked 108
• MONDO:0026724 Paganini-Miozzo syndrome
• MONDO:0026726 nephrotic syndrome, type 20
• MONDO:0026727 Shukla-Vernon syndrome
• MONDO:0026729 congenital disorder of glycosylation, type ICC
• MONDO:0026730 Basilicata-Akhtar syndrome
• MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8
• MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9
• MONDO:0026733 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type
• MONDO:0026782 chondrodysplasia punctata 2, X-linked dominant
• MONDO:0027048 deafness, Y-linked 2
• MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1
• MONDO:0027069 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1
• MONDO:0032485 intellectual developmental disorder 61
• MONDO:0032526 spinocerebellar ataxia 48
• MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3
• MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies
• MONDO:0032566 squalene synthase deficiency
• MONDO:0032567 isolated growth hormone deficiency, type 4
• MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay
• MONDO:0032569 isolated growth hormone deficiency, type 5
• MONDO:0032570 Joubert syndrome 35
• MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type
• MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay
• MONDO:0032573 bone marrow failure syndrome 5
• MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits
• MONDO:0032575 diarrhea 9
• MONDO:0032577 retinitis pigmentosa 83
• MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9
• MONDO:0032579 warburg-cinotti syndrome
• MONDO:0032580 nephrotic syndrome, type 17
• MONDO:0032581 nephrotic syndrome, type 18
• MONDO:0032582 nephrotic syndrome, type 19
• MONDO:0032583 microcephaly 24, primary, autosomal recessive
• MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
• MONDO:0032586 diarrhea 10, protein-losing enteropathy type
• MONDO:0032588 periventricular nodular heterotopia 8
• MONDO:0032590 ovarian dysgenesis 8
• MONDO:0032591 hyperparathyroidism, transient neonatal
• MONDO:0032592 cardiomyopathy, dilated, 2c
• MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP
• MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic
• MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic
• MONDO:0032598 epileptic encephalopathy, early infantile, 68
• MONDO:0032599 immunodeficiency 15a
• MONDO:0032600 snijders blok-campeau syndrome
• MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy
• MONDO:0032603 polydactyly, postaxial, type A9
• MONDO:0032604 retinitis pigmentosa 84
• MONDO:0032605 mental retardation, autosomal recessive 66
• MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2
• MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction
• MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3
• MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4
• MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5
• MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6
• MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7
• MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8
• MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2
• [MONDO:0032615](http://purl...

v2020-04-05

Summary

• 86 new classes
• 23 obsoletions
• 64 renamed classes

New Classes

• MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B
• MONDO:0020747 sitosterolemia 1
• MONDO:0020748 sitosterolemia 2
• MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
• MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
• MONDO:0020751 orthostatic hypotension 2
• MONDO:0020752 EJM1
• MONDO:0020811 mitochondrial complex III deficiency, nuclear type
• MONDO:0020927 postaxial polydactyly
• MONDO:0020937 contractures, pterygia, and variable skeletal fusions syndrome
• MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency
• MONDO:0021272 inherited orthostatic hypotension
• MONDO:0025667 obsolete limbal stem cell deficiency
• MONDO:0026754 obsolete histidinuria-renal tubular defect syndrome
• MONDO:0027749 serpinopathy
• MONDO:0027750 serpinopathy with toxic serpin polymerization
• MONDO:0027751 serpinopathy with loss of serpin function
• MONDO:0033135 pmp2-related charcot-marie-tooth disease type 1
• MONDO:0033187 combined oxidative phosphorylation defect type 29
• MONDO:0033672 duane anomaly-myopathy-scoliosis syndrome
• MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
• MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
• MONDO:0033717 congenital cerebellar ataxia due to rnu12 mutation
• MONDO:0033809 isolated blepharochalasis
• MONDO:0033810 isolated iridoschisis
• MONDO:0033816 thygeson superficial punctate keratopathy
• MONDO:0033818 terrien marginal degeneration
• MONDO:0033821 fungal keratitis
• MONDO:0033838 radiation-induced plexopathy
• MONDO:0033839 osteoradionecrosis of the mandible
• MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
• MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
• MONDO:0033856 lama5-related multisystemic syndrome
• MONDO:0033862 primary autoimmune enteropathy
• MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
• MONDO:0033925 pediatric-onset Graves disease
• MONDO:0033926 prepubertal anorexia nervosa
• MONDO:0033939 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
• MONDO:0033946 hereditary angioedema with c1inh deficiency
• MONDO:0033947 hereditary angioedema with normal c1inh
• MONDO:0033948 acquired angioedema with c1inh deficiency
• MONDO:0033954 monoclonal mast cell activation syndrome
• MONDO:0033967 immune dysregulation with inflammatory bowel disease
• MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
• MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome
• MONDO:0033980 rela fusion-positive ependymoma
• MONDO:0033981 obsolete krt1-related diffuse nonepidermolytic keratoderma
• MONDO:0034021 spondylodysplastic ehlers-danlos syndrome
• MONDO:0034022 myopathic ehlers-danlos syndrome
• MONDO:0034024 kyphoscoliotic ehlers-danlos syndrome
• MONDO:0034041 congenital axonal neuropathy with encephalopathy
• MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency
• MONDO:0034082 obsolete necrobiosis lipoidica
• MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
• MONDO:0034099 syngap1-related developmental and epileptic encephalopathy
• MONDO:0034103 infection-related hemolytic uremic syndrome
• MONDO:0034104 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
• MONDO:0034106 rnf13-related severe early-onset epileptic encephalopathy
• MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers
• MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
• MONDO:0034121 NAD(P)HX dehydratase deficiency
• MONDO:0034122 obsolete NAD(P)HX epimerase deficiency
• MONDO:0034127 IgA pemphigus
• MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome
• MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia
• MONDO:0034145 oculocerebrodental syndrome
• MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency
• MONDO:0034147 neonatal epileptic encephalopathy due to glutaminase deficiency
• MONDO:0034150 idiopathic gastroparesis
• MONDO:0034186 autosomal recessive extra-oral halitosis
• MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
• MONDO:0034204 syndromic congenital sodium diarrhea
• MONDO:0034212 methotrexate toxicity
• MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
• MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
• MONDO:0035892 Mills syndrome
• MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation
• MONDO:0100089 GATA1-Related X-Linked Cytopenia
• MONDO:0100091 inherited pseudoxanthoma elasticum
• MONDO:0100105 brain small vessel disease 3
• MONDO:0100106 neonatal epileptic encephalopathy
• MONDO:0100112 ACBD5 deficiency
• MONDO:0100113 hearing loss with skin disease
• MONDO:0100114 dry age related macular degeneration
• MONDO:0100115 acute flaccid myelitis
• MONDO:0100116 middle east respiratory syndrome

Obsoletions

• MONDO:0000184 congenital vitamin K-dependent coagulation factors combined deficiency --> obsolete congenital vitamin K-dependent coagulation factors
  com...

v2020-03-05

Summary:

• 9 new classes
• 7 classes obsoleted
• 27 classes were renamed

Detailed changes:

New Classes

• MONDO:0100096 2019 novel coronavirus infection
• MONDO:0100100 SELENON-related myopathy
• MONDO:0100101 Fetal akinesia deformation sequence 1
• MONDO:0100102 Fetal akinesia deformation sequence 2
• MONDO:0100103 Fetal akinesia deformation sequence 3
• MONDO:0100104 Fetal akinesia deformation sequence 4
• MONDO:0100107 non-neonatal early infantile epileptic encephalopathy
• MONDO:0100108 TPM3-related myopathy
• MONDO:0100110 adenovirus renal infection

Obsoletions

• MONDO:0000024 exostoses, multiple --> obsolete exostoses, multiple
• MONDO:0006697 Chlamydophila infectious disease --> obsolete Chlamydophila infectious disease
• MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to --> obsolete adenosine deaminase, elevated, hemolytic anemia due to
• MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B --> obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
• MONDO:0011809 Mammographic density --> obsolete mammographic density
• MONDO:0012372 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features --> obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• MONDO:0060722 neurodevelopmental disorder with brain, liver, and lung abnormalities --> obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities

Renaming

• MONDO:0000024 exostoses, multiple --> obsolete exostoses, multiple
• MONDO:0005775 glucosephosphate dehydrogenase deficiency --> G6PD deficiency
• MONDO:0006697 Chlamydophila infectious disease --> obsolete Chlamydophila infectious disease
• MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to --> obsolete adenosine deaminase, elevated, hemolytic anemia due to
• MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B --> obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
• MONDO:0010433 SLEB15 --> systemic lupus erythematosus, susceptibility to, 15
• MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome --> IFAP/Breshek syndrome
• MONDO:0010898 familial temporal lobe epilepsy 1 --> Autosomal dominant epilepsy with auditory features
• MONDO:0011560 SLEB3 --> systemic lupus erythematosus, susceptibility to, 3
• MONDO:0011807 SLEH1 --> systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1
• MONDO:0011809 Mammographic density --> obsolete mammographic density
• MONDO:0011942 SLEN1 --> systemic lupus erythematosus with nephritis, susceptibility to, 1
• MONDO:0011943 SLEN2 --> systemic lupus erythematosus with nephritis, susceptibility to, 2
• MONDO:0011944 SLEN3 --> systemic lupus erythematosus with nephritis, susceptibility to, 3
• MONDO:0012036 SLEB4 --> systemic lupus erythematosus, susceptibility to, 4
• MONDO:0012361 SLEB5 --> systemic lupus erythematosus, susceptibility to, 5
• MONDO:0012369 SLEB6 --> systemic lupus erythematosus, susceptibility to, 6
• MONDO:0012372 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features --> obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• MONDO:0012403 SLEB7 --> systemic lupus erythematosus, susceptibility to, 7
• MONDO:0012404 SLEB8 --> systemic lupus erythematosus, susceptibility to, 8
• MONDO:0012836 SLEB12 --> systemic lupus erythematosus, susceptibility to, 12
• MONDO:0012884 SLEB13 --> systemic lupus erythematosus, susceptibility to, 13
• MONDO:0013152 SLEB14 --> systemic lupus erythematosus, susceptibility to, 14
• MONDO:0013731 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome --> MEGF10-Related Myopathy
• MONDO:0013743 autosomal systemic lupus erythematosus --> autosomal systemic lupus erythematosus type 16
• MONDO:0020135 non-syndromic pontocerebellar hypoplasia --> pontocerebellar hypoplasia
• MONDO:0060722 neurodevelopmental disorder with brain, liver, and lung abnormalities --> obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities

Also available here changes.md

v2020-01-27

2020-01-27 release

• revise text def for MONDO:0001973
• update label for MONDO:0014510
• relabel MONDO:0014510; fixes #811
• remove superclass assertion to inherited genetic disease
• revise text def for MONDO:0001973
• edit MONDO_0016063
• add metadata to MONDO:0010778; addresses #1085
• rename MONDO:0009796
• fix typos; fixes #1103
• obsolete MONDO:0022469; fixes #141
• obsolete terms that have been obsoleted in GARD; addresses #141
• remove xref to OMIM:101900
• I don't think 'Darier disease' is considered a subclass of OMIM:101900 ACROKERATOSIS VERRUCIFORMIS
• remove xrefs to EFO:0004124 from 'Darier disease'; fixes #10
• EFO:0004124 no longer exists in EFO
• rename MONDO:0009796; fixes #724
• add new term MONDO:0100095; fixes #801
• revise synonym; fixes #884
• obsolete MONDO:0012647; fixes #1062
• revise xrefs for Meige disease; fixes #1087
• fix typo; fixes #1083
• add axiom to MONDO_0010778; addresses #1085
• add new term MONDO:0100094; addresses #1084
• remove comment from MONDO:0016747; fixes #424
• add synonym to MONDO:0014558; fixes #1052
• edit MONDO_0016063
• move synonyms to MONDO:0024542; fixes #1059
• obsolete MONDO:0010394; fixes #1019
• edit MONDO_0013981
• added synonym: familial myoclonus
• replaced dbxref OMIM:614937 with OMIM:PS614937
• added new subclasses: - MYOCLONUS, FAMILIAL, 2; - myoclonus, familial, 1; fixes #1061
• add xref and seeAlso; addresses #1054
• revise superclass for 'Kleefstra syndrome due to 9q34 microdeletion'; fixes #1063
• remove comment from MONDO:0016248; fixes #434
• fix def for MONDO:0016249; addresses #434
• obsolete Leigh disease; fixes #675
• remove new superclass from MONDO_0024308
• 'pseudoxanthoma elasticum (inherited or acquired)'; addresses #1015
• add axiom linking to ncbitaxon to MONDO_0001973; fixes #809
• revise definition for MONDO:0001973; addresses #809
• add superclass and additional annotations to MONDO:0024308; fixes #1015
• obsolete MONDO:0007613; fixes #1029
• remove comment from MONDO_0005094; closes #433
• obsolete MONDO:0022418; fixes #431
• add synonyms to MONDO_0014812; addresses #1054
• obsolete MONDO:0009834 pancreatic insufficiency, combined exocrine; fixes #710
• rename MONDO:0004819; fixes #423
• add term replaced by to MONDO_0009289
• remove comment from MONDO_0018065; fixes #427
• relabel MONDO_0001083
• and remove comment on MONDO_0007600 'primary Fanconi syndrome'; fixes #428
• obsolete MONDO:0005403 neonatal systemic lupus erthematosus; fixes #986
• obsolete MONDO:0009289 glycogen storage disease IC; fixes #430
• Minor BBS and PXE changes
• PXE minor changes (see also #1046 for other PXE changes)
• reclassified 'ischemia reperfusion injury'; fixes #1040
• revise superclass for MONDO_0006761; addresses #1029
• revise label for MONDO_0000595 'sexual disorder'
• reclassify MONDO_0002134 'physiological sexual disorder'; addresses #723
• revise label for MONDO:0016644
• revise superclass for MONDO_0005079
• add axiom to MONDO_0006625
• revise superclass for MONDO_0006625; addresses #1013
• revise superclass for MONDO_0005079; fixes #1014
• revise text def and synonym; fixes #1032
• update superclass and label for MONDO_0005468; fixes #1030
• remove incorrect superclass and annotations for MONDO_0016644; fixes #1028
• moved PMID in xref to dbxef on text def for MONDO_0004977
• add superclass to MONDO_0005688
• revise superclass assertions for MONDO_0005219 and MONDO_0021154; fixes #1016
• add superclass to MONDO_0005688; fixes #1017
• revise synonym annotations for MONDO_0008564; fixes #1006
• remove superclass assertions for MONDO_0008608; fixes #824
• add superclass assertion to MONDO_0015967; fixes #1022
• BBS text def, see monarch-initiative/hpo-annotation-data#402
• revise superclasses; fixes #990
• revise label and superclass for MONDO_0002436
• and add synonym to MONDO_0024623; addresses #525
• update annotation on MONDO:0005158; fixes #991
• revise superclasses for MONDO:0018982 'Niemann-Pick disease type C'; fixes #565
• fix dbxrefs; addresses #1002
• moved OMIM xref to new terem; fixes #1004
• added def to anotia facial palsy cardiac defect'
• added def to Anophthalmia megalocornea cardiopathy skeletal anomalies; Note - this was in Orphanet, but not xref'd in MONDO
• added def to anophthalmia esophageal atresia cryptorchidism'
• added def to annular constricting bands'
• added def to angiomyomatous hamartoma'
• added def to amyloidosis bronchopulmonary'
• added def to alopecia universalis onychodystrophy vitiligo'

New Classes

• MONDO:0100092 myoclonus, familial, 2
• MONDO:0100093 myoclonus, familial, 1
• MONDO:0100094 cannabinoid hyperemesis syndrome
• MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Obsoletions

• MONDO:0005403 neonatal systemic lupus erthematosus --> obsolete neonatal systemic lupus erthematosus
• MONDO:0007613 fibromuscular dysplasia of arteries --> obsolete fibromuscular dysplasia of arteries
• MONDO:0009289 glycogen storage disease IC --> obsolete glycogen storage disease IC
• MONDO:0009834 pancreatic insufficiency, combined exocrine --> obsolete pancreatic insufficiency, combined exocrine
• MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome --> obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
• MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 --> obsolete generalized epilepsy with febrile seizures plus, type 3
• MONDO:0018859 Leigh disease --> obsolete Leigh disease
• MONDO:0021909 aplasia cutis congenita recessive --> obsolete aplasia cutis congenita recessive
• MONDO:0022418 alopecia immunodeficiency --> obsolete alopecia immunodeficiency
• MONDO:0022464 anophthalmia microcephaly hypogonadism --> obsolete anophthalmia microcephaly hypogonadism
• MONDO:0022469 aortic arches defect --> obsolete aortic arches defect
• MONDO:0022495 arthritis short stature deafness --> obsolete arthritis short stature deafness
• MONDO:0023141 antihypertensive drugs antenatal exposure syndrome --> obsolete antihypertensive drugs antenatal exposure syndrome

Renaming

• MONDO:0000595 sexual disorder --> sexual and gender identity disorders
• MONDO:0001083 Fanconi syndrome --> Fanconi renotubular syndrome
• MONDO:0002436 nose disease --> nasal disorder
• MONDO:0004819 indolent myeloma --> indolent plasma cell myeloma
• MONDO:0005403 neonatal systemic lupus erthematosus --> obsolete neonatal systemic lupus erthematosus
• MONDO:0005468 hypotension (disease) --> hypotensive disorder
• MONDO:0007613 fibromuscular dysplasia of arteries --> obsolete fibromuscular dysplasia of arteries
• MONDO:0009289 glycogen storage disease IC --> obsolete glycogen storage disease IC
• MONDO:0009796 gyrate atrophy --> ornithine aminotransferase deficiency
• MONDO:0009834 pancreatic insufficiency, combined exocrine --> obsolete pancreatic insufficiency, combined exocrine
• MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome --> obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
• MONDO:0011891 epilepsy, childhood absence, susceptibility to, 2 --> febrile seizures, familial, 8
• MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 --> obsolete generalized epilepsy with febrile seizures plus, type 3
• MONDO:0014510 severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency --> fatty acyl-CoA reductase 1 deficiency
• MONDO:0014761 hereditary pediatric BehC'et-like disease --> hereditary pediatric Behçet-like disease
• MONDO:0016644 Logopenic progressive aphasia --> logopenic progressive aphasia
• MONDO:0018859 Leigh disease --> obsolete Leigh disease
• MONDO:0021909 aplasia cutis congenita recessive --> obsolete aplasia cutis congenita recessive
• MONDO:0022418 alopecia immunodeficiency --> obsolete alopecia immunodeficiency
• MONDO:0022464 anophthalmia microcephaly hypogonadism --> obsolete anopht...

v2019-11-25

2019-11-25 release

• reclasify paralysis terms - closes #622
• obsolete MONDO:0016076 - closes #842
• revise superclass for MONDO_0006685 - closes #580
• obsolete MONDO:0009651 - closes #816
• add comment to MONDO:0005259 closes #705
• update annotations on MONDO:0006849 closes #989
• revise superclasses for MONDO_0016823 closes #581
• relabel MONDO:0019303 addresses #821
• add subclassOf relations to MONDO_0008608 'Down syndrome' closes #824
• add superclassOf axiom to MONDO_0007052 'growth hormone secreting pituitary adenoma 1' closes #692
• add superclassOf relation to MONDO_0007052 'growth hormone secreting pituitary adenoma 1' addresses #692
• rename MONDO:0007750 hypercholesterolemia, familial, 1 closes #729.
• obsolete 'sensory system disease' closes #823
• remove excluded subclass of from MONDO_0001202 closes #726
• revise annotations for MONDO_0005305 addresses #924
• obsolete MONDO:0001445 neurogenic bladder (disease) closes #974
• delete xref to obsolete EFO term addresses #992
• obsolete MONDO:0022460 closes #140
• obsolete MONDO:0007563 and MONDO:0005305 closes #924
• remove incorrect xref from MONDO:0016462 isolated agammaglobulinemia closes #800
• excluding DO syns that clash with other exact syns, see #808
• excluding DO syns that clash with other label, see #808
• update label and syn scope for Mungan syndrome closes #887
• relink excluded subclass of closes #898
• reclassiify 'Hinman syndrome' and add equiv axiom to neurogenic bladder addresses #885
• obsolete MONDO:0009639 mitochondrial myopathy with lactic acidosis closes #817
• obsolete MONDO:0022314 closes #880
• add def to MONDO:0013419 closes #959
• revise superclass for MONDO_0010252 closes #926
• add new term MONDO:0100085 cancer of long bone of upper limb closes #899
• merged dupes for nephropathic infantile cystinosis, fixes #960
• changes for #960
• add MONDO:0100086 perinatal disease addresses #685
• add new terms MONDO:0100087 familial Alzheimber disease MONDO:0100088 late-onset familial alzheimer disease closes #921
• obsolete MONDO:0006775 closes #877
• remove superclasses for cystic fibrosis addresses #685
• reclassify MONDO_0004961 and MONDO:0004962 and revise text def for MONDO:0004962 per EBISPOT/efo#329 closes #490
• Revise classification of MONDO:0044013 'puerperal disorder' closes #652
• fix typo closes #883
• fix typo address #926
• revise de for MONDO:0000509 addresses #926
• revise subclass for MONDO_0014224 addresses #926
• change labels addresses #926
• add axiom to actinopathy closes #942
• update text def for MONDO:0013343 closes #939
• revised synonym scope for 'C1Q deficiency' closes #940
• revise subclass assertions for MONDO:0009833 closes #859
• add missing period in text def for MONDO:0005413 addresses #685
• relabel MONDO:0005413 and change superclass addresses #685
• fixed issue subclassOf assertion for MONDO_0022968 addresses #841
• obsoleted drug response terms Obsoleted these classes: MONDO_0007348 Colchicine resistance MONDO_0008697 'acetophenetidin sensitivity' MONDO_0008906 Carbimazole sensitivity MONDO_0012294 CYP2C19-related poor drug metabolism MONDO_0012148 'drug metabolism, poor, CYP2D6-related' MONDO_0014330 'eculizumab, poor response to' closes #860
• obsolete class MONDO:0004823 addresses #841
• obsolete MONDO:0019184 closes #836
• update synonyms for MONDO:0060702 closes #875
• remove dbxref from MONDO_0009290 closes #862
• remove superclass assertions for MONDO:0009169 addresses #834
• remove subclassof assertions Removed subClass Of assertions and added execluded subclass of annotatiions for MONDO:0010631 and MONDO:0010568 closes #912
• add new term MONDO:0100084 actinopathy closes #900
• remove incorrect xrefs and synonyms from endotheliitis closes #904
• fix issues with prion disease terms addresses issues outlined in #908
• remove subclass of assertioin for MONDO_0005772 (geotrichosis) closes #909
• add term replaced by annotation to 'obsolete Marfan syndrome type 2' closes #913
• Fixes gene URI issues fixes #905 also normalizes

New Classes

• MONDO:0020744 Mobitz type I atrioventricular block
• MONDO:0020745 autosomal dominant cardiac arrhythmia (Kuhn)
• MONDO:0020755 heart block
• MONDO:0020803 bundle branch block
• MONDO:0020806 sinoatrial block
• MONDO:0100084 actinopathy
• MONDO:0100085 cancer of long bone of upper limb
• MONDO:0100086 perinatal disease
• MONDO:0100087 familial Alzheimber disease
• MONDO:0100088 late-onset familial alzheimer disease
• MONDO:0400002 calcium-alkali syndrome

Obsoletions

• MONDO:0001445 neurogenic bladder (disease) --> obsolete neurogenic bladder (disease)
• MONDO:0004823 dextrocardia --> obsolete dextrocardia
• MONDO:0005128 sensory system disease --> obsolete sensory system disease
• MONDO:0005305 epistaxis --> obsolete epistaxis
• MONDO:0006775 haemophilus influenzae meningitis --> obsolete haemophilus influenzae meningitis
• MONDO:0007348 colchicine resistance --> obsolete colchicine resistance
• MONDO:0007563 epistaxis, hereditary --> obsolete epistaxis, hereditary
• MONDO:0008697 acetophenetidin sensitivity --> obsolete acetophenetidin sensitivity
• MONDO:0008906 carbimazole sensitivity --> obsolete carbimazole sensitivity
• MONDO:0009065 cystinosis, nephropathic --> obsolete cystinosis, nephropathic
• MONDO:0009639 mitochondrial myopathy with lactic acidosis --> obsolete mitochondrial myopathy with lactic acidosis
• MONDO:0009651 pseudo-Hurler ...

2019-10-25

• remove HP_0000010 'Recurrent urinary tract infections' as a dbxref fr…
• Fixed id typo , see #890
• obsoleting generic sucrose intolerance (a phenotype), fixes #886. Axiomatizing other intestinal malabsorbtion diseases
• revise logical def of 'cystic fibrosis associated meconium ileum'. Addresses #685
• fix typos. close #873
• add new term MONDO:0100083 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1'. Closes #864
• revise label, def and synonyms for MONDO_0011071. Closes #863
• revise labels for hepatitis infection terms. Addresses #825
• fix ID for 'sleep disorder' in superclass assertion for 'sleep-wake disorder'. Closes #866
• obsolete MONDO:0005409 variant Creutzfeld Jacob disease. Closes #847
• add superclass and def for LMNA-related cardiocutaneous progeria syndrome: Addresses #821
• revise superclasses for 'Hallermann-Streiff syndrome'. addresses #821
• revise parents and def for De Barsy syndrome. Addresses #821
• add superclasses and def for acrogeria. Addresses #821
• revise parent for 'premature aging'. Addresses #821
• revise text def for 'subcorneal pustular dermatosis'. Addresses #808
• remove HP: 0001941 as an dbxef to MONDO:0041261 'disorder of acid-base balance'. Addresses #841
• move MONDO:0001650 'acute cystitis (disease)' to a child of MONDO:0005247 'urinary tract infection (disease)'. Addresses #841
• remove HP_0000010 'Recurrent urinary tract infections' as a dbxref from MONDO:0001650 'acute cystitis (disease)' and MONDO:0005247 'urinary tract infection (disease)'. Addresses #841
• add deprecated annotation to synonyms of 'intellectual disability, autosomal recessive 15'. addresses #73
• delete SubClassOf assertion 'disease has location' some 'hepatobiliary system' (source:EFO:0006513). addresses #834
• update def for MONDO:0016076. addresses #842

New Classes

• MONDO:0020420 pulmonary branch stenosis
• MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
• MONDO:0400000 small intestinal bacterial overgrowth
• MONDO:0400003 skeletal fluorosis

Obsoletions

• MONDO:0005409 variant Creutzfeld Jacob disease --> obsolete variant Creutzfeld Jacob disease
• MONDO:0045021 sucrose intolerance disease --> obsolete sucrose intolerance disease

Renaming

• MONDO:0005231 hepatitis C infection --> hepatitis C virus infection
• MONDO:0005344 hepatitis B infection --> hepatitis B virus infection
• MONDO:0005354 chronic hepatitis C infection --> chronic hepatitis C virus infection
• MONDO:0005366 chronic hepatitis B infection --> chronic hepatitis B virus infection
• MONDO:0005409 variant Creutzfeld Jacob disease --> obsolete variant Creutzfeld Jacob disease
• MONDO:0005788 hepatitis E infection --> hepatitis E virus infection
• MONDO:0005789 hepatitis D infection --> hepatitis D virus infection
• MONDO:0005790 hepatitis A infection --> hepatitis A virus infection
• MONDO:0008608 down syndrome --> Down syndrome
• MONDO:0008893 c syndrome --> C syndrome
• MONDO:0009168 fowler syndrome --> Fowler syndrome
• MONDO:0009320 hall-Riggs syndrome --> Hall-Riggs syndrome
• MONDO:0010621 child syndrome --> CHILD syndrome
• MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome --> hereditary thrombocytopenia and hematologic cancer predisposition syndrome
• MONDO:0012495 spondyloepimetaphyseal dysplasia, GeneviC(ve type --> spondyloepimetaphyseal dysplasia, Genevieve type
• MONDO:0018019 Lead poisoning --> lead poisoning
• MONDO:0045021 sucrose intolerance disease --> obsolete sucrose intolerance disease

v2019-09-30

• revise subclass assertions for hepatisis terms and relabel terms. Addresses #825
• ntr phrynoderma issue #773
• add new term MONDO:0100080 sleep disorder and move insomnia (disease)
• update defs for methylmalonic aciduria and homocystinuria type cblF
• revise defs for Stickler syndrome type 2 and 3. addresses #808
• update text def for angle-closure glaucoma #814
• revise def for MONDO:0004471 bacterial arthritis. Addresses #808
• revise subclass assertions for hepatisis terms and relabel terms. Addresses #825

New Classes

• MONDO:0001227 chronic tympanitis
• MONDO:0100080 cardioectodermal syndrome
• MONDO:0100081 sleep disorder
• MONDO:0400004 phrynoderma

Obsoletions

None

Renaming

• MONDO:0005231 hepatitis C --> hepatitis C infection
• MONDO:0005344 hepatitis B --> hepatitis B infection
• MONDO:0005354 chronic hepatitis C --> chronic hepatitis C infection
• MONDO:0005366 chronic hepatitis B --> chronic hepatitis B infection
• MONDO:0005788 hepatitis E --> hepatitis E infection
• MONDO:0005789 hepatitis D --> hepatitis D infection
• MONDO:0005790 hepatitis A --> hepatitis A infection
• MONDO:0100079 cardioectodermal syndrome --> epileptic encephalopathy, early infantile, 6

v2019-08-28

2019-08-28 release

• remove duplicate synonym from 'immune system disease'. Addresses #749
• remove superclass assertion for 'sensory system disease'. Addresses #747
• remove synonym from MONDO_0001071. Addresses #739
• Making UMLSs not found in medgen disease subset
• Adding equivalencies, see https://github.com/monarch-initiative/mondo/issues/796
• revise definition for MONDO_0100082. addresses #713
• add back dbxef and mark equivalentObsolete for MONDO_0005590. Closes #777
• add sublcassOf to Noonan syndrome and remove subclassOf, add excludedSubclassOf. Addresses #606
• ntr refeeding syndrome issue #770
• add new term MONDO_0100082 LEOPARD syndrome 1, addresses #713
• fix typo in def of MONDO:0009079, addresses #655
• revise def of MONDO:0009079, addresses #655
• revised equiv axioms for 'abdominal tuberculosis', 'eye allergy' and 'gastrointestinal tuberculosis'. Addresses #653
• change synonyms from exact to broad for MONDO_0005590. Addresses #777
• change dbxref for synonym for MONDO_0011581. Addresses #577

New Classes

• MONDO:0100082 LEOPARD syndrome 1
• MONDO:0400005 refeeding syndrome