v2020-12-18

New Classes

• MONDO:0020836 autism, susceptiblity to
• MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects
• MONDO:0026777 VEXAS syndrome
• MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
• MONDO:0033614 spastic paraplegia 83, autosomal recessive
• MONDO:0033615 coenzyme q10 deficiency, primary, 9
• MONDO:0033618 Vissers-Bodmer syndrome
• MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy
• MONDO:0033620 myofibrillar myopathy 10
• MONDO:0033621 spinal muscular atrophy, infantile, James type
• MONDO:0033622 spermatogenic failure 44
• MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies
• MONDO:0033631 combined oxidative phosphorylation deficiency 51
• MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3
• MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4
• MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7
• MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8
• MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10
• MONDO:0033640 vitamin D-dependent rickets, type 3
• MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay
• MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities
• MONDO:0033643 inflammatory bowel disease 30
• MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
• MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11
• MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12
• MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14
• MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15
• MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16
• MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17
• MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18
• MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19
• MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20
• MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21
• MONDO:0033657 leukodystrophy, hypomyelinating, 20
• MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy
• MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
• MONDO:0033664 Kilquist syndrome
• MONDO:0033665 deafness, autosomal dominant 78
• MONDO:0033667 Delpire-McNeill syndrome
• MONDO:0033668 deafness, autosomal dominant 79
• MONDO:0033669 Noonan syndrome 13
• MONDO:0033670 deafness, autosomal recessive 116
• MONDO:0033671 spermatogenic failure 45
• MONDO:0033673 spermatogenic failure 46
• MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type
• MONDO:0034846 primary desmosis coli
• MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease
• MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas
• MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form
• MONDO:0035008 isolated splenic vein thrombosis
• MONDO:0035009 isolated mesenteric vein thrombosis
• MONDO:0100195 X-linked intellectual disability with hypopituitarism
• MONDO:0100222 A20 haploinsufficiency
• MONDO:0100223 mitochondrial complex I deficiency, nuclear type
• MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1
• MONDO:0100225 collagen 6-related myopathy
• MONDO:0100226 parasomnia, sleepwalking type

Obsoletions

• MONDO:0000049 invasive pneumococcal disease, recurrent isolated --> obsolete invasive pneumococcal disease, recurrent isolated
• MONDO:0000123 obsolete factor v and Factor VIII, combined deficiency of --> obsolete factor V and Factor VIII, combined deficiency of
• MONDO:0001807 familial combined hyperlipidemia --> obsolete familial combined hyperlipidemia
• MONDO:0001932 atrophic vulva --> obsolete atrophic vulva
• MONDO:0002264 atrophy of prostate --> obsolete atrophy of prostate
• MONDO:0006168 common hematopoietic neoplasm --> obsolete common hematopoietic neoplasm
• MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm --> obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
• MONDO:0007347 CXB3S --> obsolete Coxsackievirus B3 susceptibility
• MONDO:0007468 DNA, satellite, alpha type --> obsolete DNA, satellite, alpha type
• MONDO:0007506 echo virus 11 sensitivity --> obsoleted echo virus 11 sensitivity
• MONDO:0008657 vibratory angioedema --> obsolete vibratory angioedema
• MONDO:0008761 alpha-2-deficient collagen disease --> obsolete alpha-2-deficient collagen disease
• MONDO:0009304 Gorlin-Chaudhry-Moss syndrome --> obsolete Gorlin-Chaudhry-Moss syndrome
• MONDO:0009640 mitochondrial complex I deficiency, nuclear type --> obsolete mitochondrial complex I deficiency, nuclear type
• MONDO:0010071 spondyloenchondrodysplasia --> obsolete spondyloenchondrodysplasia
• MONDO:0010195 Weissenbacher-Zweymuller syndrome --> obsolete Weissenbacher-Zweymuller syndrome
• MONDO:0010272 syndromic X-linked intellectual disability type 10 --> obsolete syndromic X-linked intellectual disability type 10
• MONDO:0010357 MRX78 --> obsolete MRX78
• MONDO:0010376 Brooks-Wisniewski-brown syndrome --> obsolete Brooks-Wisniewski-brown syndrome
• MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 --> obsolete invasive pneumococcal disease, recurrent isolated, 2
• MONDO:0011324 hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss --> obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
• MONDO:0011859 distal myopathy with early respiratory muscle involvement --> obsolete distal myopathy with early respiratory muscle involvement
• MONDO:0012189 Amish infantile epilepsy syndrome --> obsolete Amish infantile epilepsy syndrome
• MONDO:0012560 invasive pneumococcal disease, recurrent isolated, 1 --> obsolete invasive pneumoc...

v2020-12-02

New Classes

• MONDO:0020836 autism, susceptiblity to
• MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects
• MONDO:0026777 VEXAS syndrome
• MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
• MONDO:0033614 spastic paraplegia 83, autosomal recessive
• MONDO:0033615 coenzyme q10 deficiency, primary, 9
• MONDO:0033618 Vissers-Bodmer syndrome
• MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy
• MONDO:0033620 myofibrillar myopathy 10
• MONDO:0033621 spinal muscular atrophy, infantile, James type
• MONDO:0033622 spermatogenic failure 44
• MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies
• MONDO:0033631 combined oxidative phosphorylation deficiency 51
• MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3
• MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4
• MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7
• MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8
• MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10
• MONDO:0033640 vitamin D-dependent rickets, type 3
• MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay
• MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities
• MONDO:0033643 inflammatory bowel disease 30
• MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
• MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11
• MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12
• MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14
• MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15
• MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16
• MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17
• MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18
• MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19
• MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20
• MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21
• MONDO:0033657 leukodystrophy, hypomyelinating, 20
• MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy
• MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
• MONDO:0033664 Kilquist syndrome
• MONDO:0033665 deafness, autosomal dominant 78
• MONDO:0033667 Delpire-McNeill syndrome
• MONDO:0033668 deafness, autosomal dominant 79
• MONDO:0033669 Noonan syndrome 13
• MONDO:0033670 deafness, autosomal recessive 116
• MONDO:0033671 spermatogenic failure 45
• MONDO:0033673 spermatogenic failure 46
• MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type
• MONDO:0034846 primary desmosis coli
• MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease
• MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas
• MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form
• MONDO:0035008 isolated splenic vein thrombosis
• MONDO:0035009 isolated mesenteric vein thrombosis
• MONDO:0100195 X-linked intellectual disability with hypopituitarism
• MONDO:0100222 A20 haploinsufficiency
• MONDO:0100223 mitochondrial complex I deficiency, nuclear type
• MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1
• MONDO:0100225 collagen 6-related myopathy
• MONDO:0100226 parasomnia, sleepwalking type

Obsoletions

• MONDO:0000049 invasive pneumococcal disease, recurrent isolated --> obsolete invasive pneumococcal disease, recurrent isolated
• MONDO:0000123 obsolete factor v and Factor VIII, combined deficiency of --> obsolete factor V and Factor VIII, combined deficiency of
• MONDO:0001807 familial combined hyperlipidemia --> obsolete familial combined hyperlipidemia
• MONDO:0001932 atrophic vulva --> obsolete atrophic vulva
• MONDO:0002264 atrophy of prostate --> obsolete atrophy of prostate
• MONDO:0006168 common hematopoietic neoplasm --> obsolete common hematopoietic neoplasm
• MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm --> obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
• MONDO:0007347 CXB3S --> obsolete Coxsackievirus B3 susceptibility
• MONDO:0007468 DNA, satellite, alpha type --> obsolete DNA, satellite, alpha type
• MONDO:0007506 echo virus 11 sensitivity --> obsoleted echo virus 11 sensitivity
• MONDO:0008657 vibratory angioedema --> obsolete vibratory angioedema
• MONDO:0008761 alpha-2-deficient collagen disease --> obsolete alpha-2-deficient collagen disease
• MONDO:0009304 Gorlin-Chaudhry-Moss syndrome --> obsolete Gorlin-Chaudhry-Moss syndrome
• MONDO:0009640 mitochondrial complex I deficiency, nuclear type --> obsolete mitochondrial complex I deficiency, nuclear type
• MONDO:0010071 spondyloenchondrodysplasia --> obsolete spondyloenchondrodysplasia
• MONDO:0010195 Weissenbacher-Zweymuller syndrome --> obsolete Weissenbacher-Zweymuller syndrome
• MONDO:0010272 syndromic X-linked intellectual disability type 10 --> obsolete syndromic X-linked intellectual disability type 10
• MONDO:0010357 MRX78 --> obsolete MRX78
• MONDO:0010376 Brooks-Wisniewski-brown syndrome --> obsolete Brooks-Wisniewski-brown syndrome
• MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 --> obsolete invasive pneumococcal disease, recurrent isolated, 2
• MONDO:0011324 hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss --> obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
• MONDO:0011859 distal myopathy with early respiratory muscle involvement --> obsolete distal myopathy with early respiratory muscle involvement
• MONDO:0012189 Amish infantile epilepsy syndrome --> obsolete Amish infantile epilepsy syndrome
• MONDO:0012560 invasive pneumococcal disease, recurrent isolated, 1 --> obsolete invasive pneumoc...

v2020-11-06

New Classes

• MONDO:0026404 X inactivation, familial skewed, 1
• MONDO:0026426 X inactivation, familial skewed, 2
• MONDO:0026762 Wieacker-Wolff syndrome, female-restricted
• MONDO:0026763 holoprosencephaly 13, x-linked
• MONDO:0026765 congenital disorder of glycosylation, type IIr
• MONDO:0026767 immunodeficiency 74, covid19-related, x-linked
• MONDO:0026768 warfarin sensitivity, x-linked
• MONDO:0033532 Suleiman-El-Hattab syndrome
• MONDO:0033533 combined oxidative phosphorylation deficiency 45
• MONDO:0033534 combined oxidative phosphorylation deficiency 46
• MONDO:0033537 combined oxidative phosphorylation deficiency 47
• MONDO:0033541 immunodeficiency 69
• MONDO:0033542 immunodeficiency 70
• MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive
• MONDO:0033544 Tolchin-Le Caignec syndrome
• MONDO:0033545 mitochondrial DNA depletion syndrome 19
• MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive
• MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome
• MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
• MONDO:0033549 optic atrophy 12
• MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7
• MONDO:0033551 immunodeficiency 72 with autoinflammation
• MONDO:0033552 blood group, lewis system
• MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
• MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15
• MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6
• MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia
• MONDO:0033559 intellectual developmental disorder with seizures and language delay
• MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35
• MONDO:0033561 deeah syndrome
• MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
• MONDO:0033563 retinitis pigmentosa 90
• MONDO:0033564 oocyte maturation defect 8
• MONDO:0033565 oocyte maturation defect 9
• MONDO:0033566 combined oxidative phosphorylation deficiency 48
• MONDO:0033569 combined oxidative phosphorylation deficiency 49
• MONDO:0033570 combined oxidative phosphorylation deficiency 50
• MONDO:0033571 skeletal muscle glycogen content and metabolism quantitative trait locus
• MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
• MONDO:0100172 intellectual disability, autosomal dominant
• MONDO:0100188 combined ApoA-I and ApoC-III deficiency
• MONDO:0100189 apolipoprotein A-I deficiency
• MONDO:0100203 parainfluenza virus type 1 infectious disease
• MONDO:0100204 parainfluenza virus type 2 infectious disease
• MONDO:0100205 parainfluenza virus type 4 infectious disease
• MONDO:0100209 X inactivation, familial skewed
• MONDO:0100210 growth hormone insensitivity syndrome with immune dysregulation
• MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive
• MONDO:0100212 IFAP syndrome
• MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome
• MONDO:0100214 Rajab interstitial lung disease with brain calcifications
• MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1
• MONDO:0100218 arthrogryposis multiplex congenita 5
• MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
• MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2
• MONDO:0100221 IFAP syndrome 2

Obsoletions

• MONDO:0007641 Futcher line --> obsolete Futcher line
• MONDO:0007678 glycoprotein, renal --> obsolete glycoprotein, renal
• MONDO:0009510 Laron syndrome with immunodeficiency --> obsolete Laron syndrome with immunodeficiency
• MONDO:0010624 IFAP/BRESHECK syndrome --> obsolete IFAP/BRESHECK syndrome
• MONDO:0013346 brain calcification, Rajab type --> obsolete brain calcification, Rajab type
• MONDO:0016021 early infantile epileptic encephalopathy --> obsolete early infantile epileptic encephalopathy

Renaming

• MONDO:0007641 Futcher line --> obsolete Futcher line
• MONDO:0007678 glycoprotein, renal --> obsolete glycoprotein, renal
• MONDO:0008823 neurogenic arthrogryposis multiplex congenita --> arthrogryposis multiplex congenita 2, neurogenic type
• MONDO:0009510 Laron syndrome with immunodeficiency --> obsolete Laron syndrome with immunodeficiency
• MONDO:0010246 early infantile epileptic encephalopathy 9 --> developmental and epileptic encephalopathy, 9
• MONDO:0010375 hyperekplexia-epilepsy syndrome --> developmental and epileptic encephalopathy, 8
• MONDO:0010396 epileptic encephalopathy, early infantile, 2 --> developmental and epileptic encephalopathy, 2
• MONDO:0010472 ALG13-CDG --> developmental and epileptic encephalopathy, 36
• MONDO:0010624 IFAP/BRESHECK syndrome --> obsolete IFAP/BRESHECK syndrome
• MONDO:0010632 epileptic encephalopathy, early infantile, 1 --> developmental and epileptic encephalopathy, 1
• MONDO:0011393 apolipoprotein A-I deficiency --> hypoalphalipoproteinemia, primary, 1
• MONDO:0012245 epileptic encephalopathy, early infantile, 3 --> developmental and epileptic encephalopathy, 3
• MONDO:0012812 epileptic encephalopathy, early infantile, 4 --> developmental and epileptic encephalopathy, 4
• MONDO:0013056 epileptic encephalopathy with global cerebral demyelination --> developmental and epileptic encephalopathy, 39
• MONDO:0013277 epileptic encephalopathy, early infantile, 5 --> developmental and epileptic encephalopathy, 5
• MONDO:0013346 brain calcification, Rajab type --> obsolete brain calcification, Rajab type
• MONDO:0013387 KCNQ2-related epileptic encephalopathy --> developmental and epileptic encephalopathy, 7
• MONDO:0013388 epileptic encephalopathy, early infa...

v2020-10-21

New Classes

• MONDO:0020794 colorectal medullary carcinoma
• MONDO:0020801 rectal medullary carcinoma
• MONDO:0020842 obsolete medullary carcinoma
• MONDO:0100197 parainfluenza infectious disease
  +id: excluded_from_qc_check ! excluded from QC check

Obsoletions

• MONDO:0010419 X-linked sideroblastic anemia --> obsolete X-linked sideroblastic anemia
• MONDO:0019510 autosomal dominant medullary cystic kidney disease without hyperuricemia --> obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia

Renaming

• MONDO:0004460 thyroid fetal adenoma --> thyroid gland fetal adenoma
• MONDO:0004524 atypical follicular adenoma --> thyroid gland atypical follicular adenoma
• MONDO:0005302 attention deficit disorder --> attention deficit hyperactivity disorder, inattentive type
• MONDO:0007207 Book syndrome --> Böök syndrome
• MONDO:0009133 dysequilibrium syndrome --> cerebellar ataxia, intellectual disability, and dysequilibrium
• MONDO:0010117 three M syndrome 1 --> 3M syndrome 1
• MONDO:0010419 X-linked sideroblastic anemia --> obsolete X-linked sideroblastic anemia
• MONDO:0013039 three M syndrome 2 --> 3M syndrome 2
• MONDO:0013627 three M syndrome 3 --> 3M syndrome 3
• MONDO:0019510 autosomal dominant medullary cystic kidney disease without hyperuricemia --> obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia
• MONDO:0020099 constitutional sideroblastic anemia --> inherited sideroblastic anemia
• MONDO:0033135 pmp2-related charcot-marie-tooth disease type 1 --> PMP2-related Charcot-Marie-Tooth disease type 1
• MONDO:0033672 duane anomaly-myopathy-scoliosis syndrome --> Duane anomaly-myopathy-scoliosis syndrome
• MONDO:0033717 congenital cerebellar ataxia due to rnu12 mutation --> congenital cerebellar ataxia due to RNU12 mutation
• MONDO:0033818 terrien marginal degeneration --> Terrien marginal degeneration
• MONDO:0033856 lama5-related multisystemic syndrome --> LAMA5-related multisystemic syndrome
• MONDO:0033946 hereditary angioedema with c1Inh deficiency --> hereditary angioedema with C1Inh deficiency
• MONDO:0033947 hereditary angioedema with normal c1Inh --> hereditary angioedema with normal C1Inh
• MONDO:0033948 acquired angioedema with c1inh deficiency --> acquired angioedema with C1Inh deficiency
• MONDO:0033980 rela fusion-positive ependymoma --> RELA fusion-positive ependymoma
• MONDO:0034021 spondylodysplastic ehlers-danlos syndrome --> spondylodysplastic Ehlers-Danlos syndrome
• MONDO:0034022 myopathic ehlers-danlos syndrome --> myopathic Ehlers-Danlos syndrome
• MONDO:0034024 kyphoscoliotic ehlers-danlos syndrome --> kyphoscoliotic Ehlers-Danlos syndrome
• MONDO:0034099 syngap1-related developmental and epileptic encephalopathy --> SYNGAP1-related developmental and epileptic encephalopathy
• MONDO:0034106 rnf13-related severe early-onset epileptic encephalopathy --> RNF13-related severe early-onset epileptic encephalopathy
• MONDO:0044067 candidiasis, Invasive --> candidiasis, invasive

v2020-10-03

New Classes

• MONDO:0100184 GTP cyclohydrolase I deficiency
• MONDO:0100185 immune reconstitution inflammatory syndrome
• MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia
• MONDO:0100192 liver failure
• MONDO:0100193 chronic liver failure
• MONDO:0100194 pregnancy associated osteoporosis
• MONDO:0100196 TPM2-related myopathy

Obsoletions

• MONDO:0007149 arbitrary restriction polymorphism 1 --> obsolete arbitrary restriction polymorphism 1
• MONDO:0007521 egasyn --> obsolete egasyn
• MONDO:0007567 Epstein-Barr virus insertion site 1 --> obsolete Epstein-Barr virus insertion site 1
• MONDO:0007632 fragile site, Distamycin a type, rare, fra(16)(q22.1) --> obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)
• MONDO:0008126 oncogene Yuasa --> obsolete oncogene Yuasa
• MONDO:0009314 GTP-cyclohydrolase I deficiency --> obsolete GTP-cyclohydrolase I deficiency
• MONDO:0010582 diabetes insipidus, neurohypophyseal type --> obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance
• MONDO:0012424 heat-shock RNA 1 --> obsolete heat-shock RNA 1
• MONDO:0013850 periodic fever, menstrual cycle-dependent --> obsolete periodic fever, menstrual cycle-dependent
• MONDO:0018040 immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells --> obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
• MONDO:0018792 Moyamoya syndrome --> obsolete Moyamoya syndrome
• MONDO:0019847 congenital adrenal hypoplasia of maternal cause --> obsolete congenital adrenal hypoplasia of maternal cause
• MONDO:0020141 infectious disease with dementia --> obsolete infectious disease with dementia
• MONDO:0021037 genetic neurodegenerative disease with dementia --> obsolete genetic neurodegenerative disease with dementia

Renaming

• MONDO:0007149 arbitrary restriction polymorphism 1 --> obsolete arbitrary restriction polymorphism 1
• MONDO:0007521 egasyn --> obsolete egasyn
• MONDO:0007567 Epstein-Barr virus insertion site 1 --> obsolete Epstein-Barr virus insertion site 1
• MONDO:0007632 fragile site, Distamycin a type, rare, fra(16)(q22.1) --> obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)
• MONDO:0008126 oncogene Yuasa --> obsolete oncogene Yuasa
• MONDO:0008408 scapuloperoneal spinal muscular atrophy --> scapuloperoneal spinal muscular atrophy, autosomal dominant
• MONDO:0009314 GTP-cyclohydrolase I deficiency --> obsolete GTP-cyclohydrolase I deficiency
• MONDO:0010058 spinal muscular atrophy, scapuloperoneal --> scapuloperoneal spinal muscular atrophy, autosomal recessive
• MONDO:0010582 diabetes insipidus, neurohypophyseal type --> obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance
• MONDO:0010626 X-linked hyper-IgM syndrome --> hyper-IgM syndrome type 1
• MONDO:0011481 craniosynostosis, Boston type --> craniosynostosis 2
• MONDO:0011652 Phelan McDermid syndrome --> Phelan-McDermid syndrome
• MONDO:0012424 heat-shock RNA 1 --> obsolete heat-shock RNA 1
• MONDO:0013850 periodic fever, menstrual cycle-dependent --> obsolete periodic fever, menstrual cycle-dependent
• MONDO:0017938 X-linked cleft palate with or without ankyloglossia --> X-linked cleft palate and ankyloglossia
• MONDO:0018040 immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells --> obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
• MONDO:0018792 Moyamoya syndrome --> obsolete Moyamoya syndrome
• MONDO:0019847 congenital adrenal hypoplasia of maternal cause --> obsolete congenital adrenal hypoplasia of maternal cause
• MONDO:0020074 progressive myoclonic epilepsy --> progressive myoclonus epilepsy
• MONDO:0020141 infectious disease with dementia --> obsolete infectious disease with dementia
• MONDO:0021037 genetic neurodegenerative disease with dementia --> obsolete genetic neurodegenerative disease with dementia
• MONDO:0100163 SARS-CoV-2 Kawasaki-like syndrome --> COVID-19–associated multisystem inflammatory syndrome in children

v2020-09-14

New Classes

None

Obsoletions

• MONDO:0003571 labyrinthine dysfunction --> obsolete labyrinthine dysfunction
• MONDO:0013816 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques --> obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
• MONDO:0023616 familial leiomyomatosis --> obsolete familial leiomyomatosis

Renaming

• MONDO:0003571 labyrinthine dysfunction --> obsolete labyrinthine dysfunction
• MONDO:0007303 cervical rib --> cervical rib disease
• MONDO:0007955 Meckel's diverticulum --> Meckel diverticulum
• MONDO:0009669 Werdnig-Hoffmann disease --> spinal muscular atrophy, type 1
• MONDO:0009672 juvenile spinal muscular atrophy --> spinal muscular atrophy, type III
• MONDO:0009673 intermediate spinal muscular atrophy --> spinal muscular atrophy, type II
• MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness --> renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
• MONDO:0010056 adult spinal muscular atrophy --> spinal muscular atrophy, type IV
• MONDO:0011268 renal tubular acidosis, distal, autosomal recessive --> renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
• MONDO:0012700 distal renal tubular acidosis with anemia --> renal tubular acidosis, distal, 4, with hemolytic anemia
• MONDO:0013816 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques --> obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
• MONDO:0023035 eagle syndrome --> Eagle syndrome
• MONDO:0023616 familial leiomyomatosis --> obsolete familial leiomyomatosis
• MONDO:0045042 localized --> restricted to specific location

v2020-09-09

New Classes

• MONDO:0100175 TTN-related myopathy
• MONDO:0100176 AP-4 deficiency syndrome

Obsoletions

• MONDO:0010059 spinal muscular atrophy, type I, with congenital bone fractures --> obsolete spinal muscular atrophy, type I, with congenital bone fractures
• MONDO:0022512 atrial septal defect coronary sinus --> obsolete atrial septal defect coronary sinus
• MONDO:0022725 chondrodysplasia lethal recessive --> obsolete chondrodysplasia lethal recessive

Renaming

• MONDO:0010059 spinal muscular atrophy, type I, with congenital bone fractures --> obsolete spinal muscular atrophy, type I, with congenital bone fractures
• MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type --> spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
• MONDO:0011727 ANON1 --> anorexia nervosa, susceptibility to, 1
• MONDO:0016761 spondylo-epi-(meta)-physeal dysplasia --> spondyloepiphyseal dysplasia
• MONDO:0022512 atrial septal defect coronary sinus --> obsolete atrial septal defect coronary sinus
• MONDO:0022725 chondrodysplasia lethal recessive --> obsolete chondrodysplasia lethal recessive
• MONDO:0025667 obsolete limbal stem cell deficiency --> limbal stem cell deficiency
• MONDO:0100031 autosomal dominant epilepsy with auditory features --> adolescent/adult onset autosomal dominant epilepsy with auditory features

v2020-09-01

Obsoletions

• MONDO:0000746 inguinal hernia --> obsolete inguinal hernia
• MONDO:0000747 umbilical hernia --> obsolete umbilical hernia
• MONDO:0000911 dilated cardiomyopathy 1T --> obsolete dilated cardiomyopathy 1T
• MONDO:0001589 vaginal enterocele --> obsolete vaginal enterocele
• MONDO:0002510 germ cell and embryonal cancer --> obsolete germ cell and embryonal cancer
• MONDO:0005196 teratozoospermia --> obsolete teratozoospermia
• MONDO:0011378 CFM1 --> obsolete CFM1
• MONDO:0014988 3-methylglutaconic aciduria, type VIII --> obsolete 3-methylglutaconic aciduria, type VIII
• MONDO:0019331 rare form of salmonellosis --> obsolete rare form of salmonellosis
• MONDO:0022423 alpha-2 deficient collagen disease --> obsolete alpha-2 deficient collagen disease
• MONDO:0023065 encephalopathy recurrent of childhood --> obsolete encephalopathy recurrent of childhood
• MONDO:0024583 hernia --> obsolete hernia

Renaming

• MONDO:0000746 inguinal hernia --> obsolete inguinal hernia
• MONDO:0000747 umbilical hernia --> obsolete umbilical hernia
• MONDO:0000911 dilated cardiomyopathy 1T --> obsolete dilated cardiomyopathy 1T
• MONDO:0001589 vaginal enterocele --> obsolete vaginal enterocele
• MONDO:0002510 germ cell and embryonal cancer --> obsolete germ cell and embryonal cancer
• MONDO:0005196 teratozoospermia --> obsolete teratozoospermia
• MONDO:0005302 attention deficit hyperactivity disorder --> attention deficit disorder
• MONDO:0010682 myoclonic epilepsy, progressive --> myoclonic epilepsy, progressive, X-linked
• MONDO:0011378 CFM1 --> obsolete CFM1
• MONDO:0014663 growth restriction, severe, with distinctive facies --> Silver-Russell syndrome 3
• MONDO:0014988 3-methylglutaconic aciduria, type VIII --> obsolete 3-methylglutaconic aciduria, type VIII
• MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type --> Ehlers-Danlos syndrome, kyphoscoliotic type 1
• MONDO:0019331 rare form of salmonellosis --> obsolete rare form of salmonellosis
• MONDO:0022423 alpha-2 deficient collagen disease --> obsolete alpha-2 deficient collagen disease
• MONDO:0023065 encephalopathy recurrent of childhood --> obsolete encephalopathy recurrent of childhood
• MONDO:0024583 hernia --> obsolete hernia
• MONDO:0030045 liberfarb syndrome --> Liberfarb syndrome

v2020-08-13

Obsoletions

• MONDO:0002510 germ cell and embryonal cancer --> obsolete germ cell and embryonal cancer
• MONDO:0011378 CFM1 --> obsolete CFM1

Renaming

• MONDO:0002510 germ cell and embryonal cancer --> obsolete germ cell and embryonal cancer
• MONDO:0011378 CFM1 --> obsolete CFM1
• MONDO:0014663 growth restriction, severe, with distinctive facies --> Silver-Russell syndrome 3
• MONDO:0030045 liberfarb syndrome --> Liberfarb syndrome

v2020-08-10

New Classes

• MONDO:0020793 oculopharyngodistal myopathy 1
• MONDO:0020795 Silver-Russell syndrome 5
• MONDO:0020796 Silver-Russell syndrome 1
• MONDO:0020798 hypoparathyroidism, familial isolated, 2
• MONDO:0025193 oculopharyngodistal myopathy
• MONDO:0025445 Wieacker-Wolff syndrome (spectrum)
• MONDO:0030004 autism, susceptibility to, 20
• MONDO:0030005 epilepsy, early-onset, with or without developmental delay
• MONDO:0030006 combined oxidative phosphorylation deficiency 40
• MONDO:0030007 combined oxidative phosphorylation deficiency 41
• MONDO:0030008 combined oxidative phosphorylation deficiency 42
• MONDO:0030009 alopecia-mental retardation syndrome 4
• MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia
• MONDO:0030012 Diets-Jongmans syndrome
• MONDO:0030013 immunodeficiency 66
• MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26
• MONDO:0030015 bone marrow failure syndrome 6
• MONDO:0030017 combined oxidative phosphorylation deficiency 43
• MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy
• MONDO:0030019 anauxetic dysplasia 3
• MONDO:0030020 combined oxidative phosphorylation deficiency 44
• MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
• MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures
• MONDO:0030026 retinal dystrophy with leukodystrophy
• MONDO:0030027 tremor, hereditary essential, 6
• MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
• MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age
• MONDO:0030030 Nizon-Isidor syndrome
• MONDO:0030031 lissencephaly 10
• MONDO:0030032 chromosome 17q11.2 duplication syndrome, 1.4-mb
• MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications
• MONDO:0030034 epilepsy, progressive myoclonic, 11
• MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
• MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
• MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
• MONDO:0030038 glaucoma, primary closed-angle
• MONDO:0030042 proteinuria, chronic benign
• MONDO:0030043 congenital disorder of glycosylation, type iit
• MONDO:0030044 pseudo-torch syndrome 3
• MONDO:0030045 liberfarb syndrome
• MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
• MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome
• MONDO:0030048 harderoporphyria
• MONDO:0030049 46,xx sex reversal 5
• MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures
• MONDO:0030054 epileptic encephalopathy, early infantile, 86
• MONDO:0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy
• MONDO:0030056 fanconi renotubular syndrome 5
• MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome
• MONDO:0030058 deafness, autosomal dominant 77
• MONDO:0030059 epileptic encephalopathy, early infantile, 87
• MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities
• MONDO:0030061 periventricular nodular heterotopia 9
• MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14
• MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
• MONDO:0030064 episodic ataxia, type 9
• MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome
• MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5
• MONDO:0030067 treacher collins syndrome 4
• MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive
• MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility
• MONDO:0030071 retinitis pigmentosa 89
• MONDO:0030072 epileptic encephalopathy, early infantile, 88
• MONDO:0030073 Mitchell syndrome
• MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy
• MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3
• MONDO:0030087 diabetes mellitus, permanent neonatal 2
• MONDO:0030088 diabetes mellitus, permanent neonatal 3
• MONDO:0030089 diabetes mellitus, permanent neonatal 4
• MONDO:0030105 galactosemia 4
• MONDO:0030116 silver-russell syndrome 2
• MONDO:0030118 silver-russell syndrome 4
• MONDO:0030134 oculopharyngodistal myopathy 2
• MONDO:0100120 vector-borne disease
• MONDO:0100121 SCN4A-related myopathy, autosomal recessive
• MONDO:0100124 NAA10-related syndrome
• MONDO:0100126 P5CS deficiency
• MONDO:0100128 coinfection
• MONDO:0100129 intracranial arachoid cyst
• MONDO:0100132 intrahepatic bile duct adenosquamous carcinoma
• MONDO:0100133 mitochondrial complex I deficiency
• MONDO:0100134 mitochondrial complex I deficiency, mitochondrial type
• MONDO:0100135 Dravet syndrome
• MONDO:0100136 obsolete Fanconia anemia complementation group M
• MONDO:0100137 telomere syndrome
• MONDO:0100138 X-linked recessive mitochondrial myopathy
• 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
• MONDO:0100144 Uner Tan Syndrom...