v2021-03-03

New Classes

• MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis
• MONDO:0035112 acute myeloid leukemia with BCR-ABL1
• MONDO:0100237 inherited cutis laxa
• MONDO:0100238 inherited Fanconi renotubular syndrome
• MONDO:0100239 inherited hypertrophic pyloric stenosis
• MONDO:0100240 inherited thrombophilia
• MONDO:0100241 inherited thrombocytopenia
• MONDO:0100242 glioma susceptibility
• MONDO:0100243 inherited paroxysmal nocturnal hemoglobinuria
• MONDO:0100244 paroxysmal nocturnal hemoglobinuria
• MONDO:0100245 acquired paroxysmal nocturnal hemoglobinuria
• MONDO:0100246 migraine with or without aura, susceptibility to
• MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome
• MONDO:0100248 rapidly progressive primary central nervous system vasculitis
• MONDO:0100249 46,XX testicular disorder of sex development
• MONDO:0100250 46,XX sex reversal 1
• MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
• MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1
• MONDO:0100253 Roberts-SC phocomelia syndrome
• MONDO:0100255 adenosine kinase deficiency
• MONDO:0100280 Waldenstrom macroglobulinemia
• MONDO:0100281 macroglobulinemia, Waldenstrom, 1
• MONDO:0100282 SC phocomelia syndrome
• MONDO:0100284 X-linked intellectual disability
• MONDO:0100285 extrahepatic biliary atresia
• MONDO:0100286 respiratory syncytial virus bronchiolitis
• MONDO:0100288 enhanced S-cone syndrome
• MONDO:0100289 Goldmann-Favre syndrome

Obsoletions

• MONDO:0000834 bone deterioration disease --> obsolete bone deterioration disease
• MONDO:0007926 Waldenstrom macroglobulinemia --> obsolete Waldenstrom macroglobulinemia
• MONDO:0008112 Goldenhar syndrome --> obsolete Goldenhar syndrome
• MONDO:0008220 pepsinogen 3, group 1 --> obsolete pepsinogen 3, group 1
• MONDO:0008897 hyperphosphatemic familial tumoral calcinosis --> obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
• MONDO:0009989 enhanced S-cone syndrome --> obsolete enhanced S-cone syndrome
• MONDO:0010009 SC phocomelia syndrome --> obsolete SC phocomelia syndrome
• MONDO:0010303 colobomatous microphthalmia --> obsolete colobomatous microphthalmia
• MONDO:0010372 Clark-Baraitser syndrome --> obsolete Clark-Baraitser syndrome
• MONDO:0010766 46,XX testicular disorder of sex development --> obsolete 46,XX sex reversal 1
• MONDO:0011204 cerebellar degeneration-related autoantigen 3 --> obsolete cerebellar degeneration-related autoantigen 3
• MONDO:0011623 spinocerebellar ataxia, autosomal recessive 1 --> obsolete spinocerebellar ataxia, autosomal recessive 1
• MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency --> obsolete hypermethioninemia due to adenosine kinase deficiency
• MONDO:0013861 amyotrophic lateral sclerosis type 17 --> obsolete amyotrophic lateral sclerosis type 17
• MONDO:0014655 Bethlem myopathy 2 --> obsolete Bethlem myopathy 2
• MONDO:0016640 fibrous dysplasia of bone --> obsolete fibrous dysplasia of bone
• MONDO:0017911 cleft lip/palate-ectodermal dysplasia syndrome --> obsolete cleft lip/palate-ectodermal dysplasia syndrome
• MONDO:0018641 paroxysmal nocturnal hemoglobinuria --> obsolete paroxysmal nocturnal hemoglobinuria
• MONDO:0023191 Freire-Maia odontotrichomelic syndrome --> obsolete Freire-Maia odontotrichomelic syndrome
• MONDO:0033939 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome --> obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
• MONDO:0043181 refsum disease with increased pipecolic acidemia --> obsolete Refsum disease with increased pipecolic acidemia

Renaming

• MONDO:0000834 bone deterioration disease --> obsolete bone deterioration disease
• MONDO:0003321 hereditary Wilms' tumor --> hereditary Wilms tumor
• MONDO:0005578 arthritis --> arthritic joint disease
• MONDO:0006664 atrial heart septal defect --> atrial septal defect
• MONDO:0007105 frontotemporal dementia with motor neuron disease 1 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 1
• MONDO:0007172 atrial heart septal defect 1 --> atrial septal defect 1
• MONDO:0007173 atrial heart septal defect 7 --> atrial septal defect 7
• MONDO:0007319 familial calcium pyrophosphate deposition --> chondrocalcinosis 2
• MONDO:0007399 craniosynostosis 1 --> TWIST1-related craniosynostosis
• MONDO:0007681 familial multinodular goiter --> goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
• MONDO:0007768 hyperparathyroidism-jaw tumor syndrome --> hyperparathyroidism 2 with jaw tumors
• MONDO:0007926 Waldenstrom macroglobulinemia --> obsolete Waldenstrom macroglobulinemia
• MONDO:0008050 Laing early-onset distal myopathy --> MYH7-related skeletal myopathy
• MONDO:0008112 Goldenhar syndrome --> obsolete Goldenhar syndrome
• MONDO:0008220 pepsinogen 3, group 1 --> obsolete pepsinogen 3, group 1
• MONDO:0008226 aggressive periodontitis --> periodontitis, aggressive 1
• MONDO:0008355 IHPS1 --> pyloric stenosis, infantile hypertrophic, 1
• MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type --> spondyloepimetaphyseal dysplasia, Maroteaux type
• MONDO:0008494 hereditary cryohydrocytosis with normal stomatin --> cryohydrocytosis
• MONDO:0008679 Wilms tumor type 1 --> Wilms tumor 1
• MONDO:0008710 Carpenter syndrome 1 --> RAB23-related Carpenter syndrome
• MONDO:0008897 hyperphosphatemic familial tumoral calcinosis --> obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
• MONDO:0009151 Zlotogora-Ogur syndrome --> cleft lip/palate-ectodermal dysplasia syndrome
• MONDO:0009989 enhanced S-cone syndrome --> obsolete enhanced S-cone syndrome
• MONDO:0010009 SC phocomelia syndrome --> obsolete SC phocomelia syndrome
• MONDO:0010290 MNG2 --> goiter, multinodular 2
• MONDO:0010296 AGMX2 --> immunodeficiency 61
• MONDO:0010303 colobomatous microphthalmia --> obsolete colobomatous microphthalmia
• MONDO:0010372 Clark-Baraitser syndrome --> obsolete Clark-Baraitser syndrome
• MONDO:0010411 IHPS4 --> pyloric stenosis, infantile hypertrophic, 4
• MONDO:0010728 scarf syndrome --> SCARF syndrome
• MONDO:0010758 intellectual disability-developmental delay-contractures syndrome --> Wieacker-Wolff, X-linked recessive
• MONDO:0010766 46,XX testicular disorder of sex development --> obsolete 46,XX sex reversal 1
• MONDO:0010917 CCAL1 --> chondrocalcinosis 1
• MONDO:0010936 frontotemporal dementia, chromosome 3-linked --> frontotemporal dementia and/or amyotrophic lateral sclerosis 7
• MONDO:0010997 classic progressive supranuclear palsy syndrome --> supranuclear palsy, progressive, 1
• MONDO:0011204 cerebellar degeneration-related autoantigen 3 --> obsolete cerebellar degeneration-related autoantigen 3
• MONDO:0011589 MCOPCB2 --> microphthalmia with coloboma 2
• MONDO:0011623 spinocerebellar ataxia, autosomal recessive 1 --> obsolete spinocerebellar ataxia, autosomal recessive 1
• MONDO:0011635 MNG3 --> goiter, multinodular 3
• MONDO:0011801 spinocerebellar ataxia type 1 with axonal neuropathy --> spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
• MONDO:0011847 migraine without aura --> migraine without aura, susceptibility to, 4
• MONDO:0011938 atrial heart septal defect 2 --> atrial septal defect 2
• MONDO:0012278 PSNP2 --> supranuclear palsy, progressive, 2
• MONDO:0012292 hepatitis c virus, susceptibility to --> hepatitis C virus, susceptibility to
• MONDO:0012406 HRPT3 --> hyperparathyroidism 3
• MONDO:0012457 IHPS2 --> pyloric stenosis, infantile hypertrophic, 2
• MONDO:0012491 WM2 --> macroglobulinemia, Waldenstrom, 2
• MONDO:0012551 AA2 --> alopecia areata 2
• MONDO:0012561 congenital anomalies of kidney and urinary tract 1, susceptibility to --> congenital anomalies of kidney and urinary tract 1
• MONDO:0012576 PSNP3 --> supranuclear palsy, progressive, 3
• MONDO:0012654 atrial heart septal defect 4 --> atrial septal defect 4
• MONDO:0012715 MGR12 --> migraine with or without aura, susceptibility to, 12
• MONDO:0012785 infantile hypertrophic pyloric stenosis type 3 --> pyloric stenosis, infantile hypertrophic, 3
• MONDO:0012922 infantile hypertrophic pyloric stenosis type 5 --> pyloric stenosis, infantile hypertrophic, 5
• MONDO:0013011 atrial heart septal defect 5 --> atrial septal defect 5
• MONDO:0013123 atrial heart septal defect 6 --> atrial septal defect 6
• MONDO:0013138 BRV2 --> vertigo, benign recurrent, 2
• MONDO:0013501 amyotrophic lateral sclerosis type 14 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 6
• MONDO:0013567 atrial heart septal defect 3 --> atrial septal defect 3
• MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency --> obsolete hypermethioninemia due to adenosine kinase deficiency
• MONDO:0013750 atrial heart septal defect 8 --> atrial septal defect 8
• MONDO:0013770 atrial heart septal defect 9 --> atrial septal defect 9
• MONDO:0013861 amyotrophic lateral sclerosis type 17 --> obsolete amyotrophic lateral sclerosis type 17
• MONDO:0013998 Carpenter syndrome 2 --> MEGF8-related Carpenter syndrome
• MONDO:0014128 craniosynostosis 3 --> TCF12-related craniosynostosis
• MONDO:0014395 FTDALS2 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 2
• MONDO:0014640 FTDALS3 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 3
• MONDO:0014641 FTDALS4 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 4
• MONDO:0014655 Bethlem myopathy 2 --> obsolete Bethlem myopathy 2
• MONDO:0014659 fever-associated acute infantile liver failure syndrome --> infantile liver failure syndrome 2
• MONDO:0016640 fibrous dysplasia of bone --> obsolete fibrous dysplasia of bone
• MONDO:0017241 severe intellectual disability and progressive spastic paraplegia --> AP4-related intellectual disability and spastic paraplegia
• MONDO:0017911 cleft lip/palate-ectodermal dysplasia syndrome --> obsolete cleft lip/palate-ectodermal dysplasia syndrome
• MONDO:0018641 paroxysmal nocturnal hemoglobinuria --> obsolete paroxysmal nocturnal hemoglobinuria
• MONDO:0018828 UPS18 deficiency --> pseudo-TORCH syndrome 2
• MONDO:0018996 spinocerebellar ataxia with axonal neuropathy type 2 --> spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
• MONDO:0019567 Ehlers-Danlos syndrome type 1 --> Ehlers-Danlos syndrome, classic type, 1
• MONDO:0019568 Ehlers-Danlos syndrome type 2 --> Ehlers-Danlos syndrome, classic type, 2
• MONDO:0022948 deal barratt dillon syndrome --> Deal Barratt Dillon syndrome
• MONDO:0023191 Freire-Maia odontotrichomelic syndrome --> obsolete Freire-Maia odontotrichomelic syndrome
• MONDO:0024525 FRTS1 --> Fanconi renotubular syndrome 1
• MONDO:0024549 MCOPCB1 --> microphthalmia with coloboma 1
• MONDO:0027451 autosomal recessive cutis laxa type 2d --> autosomal recessive cutis laxa type 2D
• MONDO:0027462 autosomal recessive cutis laxa type 2c --> autosomal recessive cutis laxa type 2C
• MONDO:0027676 congenital anomalies of kidney and urinary tract type 2 --> congenital anomalies of kidney and urinary tract 2
• MONDO:0030044 pseudo-torch syndrome 3 --> pseudo-TORCH syndrome 3
• MONDO:0030056 fanconi renotubular syndrome 5 --> Fanconi renotubular syndrome 5
• MONDO:0033939 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome --> obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
• MONDO:0034022 myopathic Ehlers-Danlos syndrome --> Bethlem myopathy 2
• MONDO:0043181 refsum disease with increased pipecolic acidemia --> obsolete Refsum disease with increased pipecolic acidemia
• MONDO:0060564 helix syndrome --> HELIX syndrome