Releases
v2020-04-05
Summary
86 new classes
23 obsoletions
64 renamed classes
New Classes
Obsoletions
MONDO:0000184 congenital vitamin K-dependent coagulation factors combined deficiency --> obsolete congenital vitamin K-dependent coagulation factors
combined deficiency
MONDO:0000406 Brown-Vialetto-van Laere syndrome --> obsolete Brown-Vialetto-van Laere syndrome
MONDO:0000844 spondyloepimetaphyseal dysplasia --> obsolete spondyloepimetaphyseal dysplasia
MONDO:0001058 gastric fundus cancer --> obsolete gastric fundus cancer
MONDO:0002364 Wolffian duct adenoma --> obsolete Wolffian duct adenoma
MONDO:0005285 kidney stone --> obsolete kidney stone
MONDO:0006719 cystic lymphangioma --> obsolete cystic lymphangioma
MONDO:0006818 keratoconjunctivitis sicca --> obsolete keratoconjunctivitis sicca
MONDO:0006860 mucoepidermoid tumor --> obsolete mucoepidermoid tumor
MONDO:0007928 Fechtner syndrome --> obsolete Fechtner syndrome
MONDO:0007929 Epstein syndrome --> obsolete Epstein syndrome
MONDO:0010530 anus, imperforate --> obsolete anus, imperforate
MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness --> obsolete macrothrombocytopenia and progressive sensorineural deafness
MONDO:0011526 Sebastian syndrome --> obsolete Sebastian syndrome
MONDO:0011769 familial aortic dissection --> obsolete familial aortic dissection
MONDO:0011865 COL4A1-related familial vascular leukoencephalopathy --> obsolete COL4A1-related familial vascular leukoencephalopathy
MONDO:0015078 gastroenteropancreatic neuroendocrine neoplasm --> obsolete gastroenteropancreatic neuroendocrine neoplasm
MONDO:0016569 rare lymphatic malformation --> obsolete rare lymphatic malformation
MONDO:0021971 Baraitser Rodeck garner syndrome --> obsolete Baraitser Rodeck garner syndrome
MONDO:0022263 congenital hepatic fibrosis --> obsolete congenital hepatic fibrosis
MONDO:0023097 exostoses anetodermia brachydactyly type E --> obsolete exostoses anetodermia brachydactyly type E
MONDO:0024267 epidemic encephalitis --> obsolete epidemic encephalitis
Renaming
MONDO:0000184 congenital vitamin K-dependent coagulation factors combined deficiency --> obsolete congenital vitamin K-dependent coagulation factors
combined deficiency
MONDO:0000406 Brown-Vialetto-van Laere syndrome --> obsolete Brown-Vialetto-van Laere syndrome
MONDO:0000844 spondyloepimetaphyseal dysplasia --> obsolete spondyloepimetaphyseal dysplasia
MONDO:0001058 gastric fundus cancer --> obsolete gastric fundus cancer
MONDO:0002364 Wolffian duct adenoma --> obsolete Wolffian duct adenoma
MONDO:0003787 childhood testicular mixed germ cell tumor --> childhood testicular mixed germ cell cancer
MONDO:0005285 kidney stone --> obsolete kidney stone
MONDO:0006667 b- and T-cell mixed leukemia --> B- and T-cell mixed leukemia
MONDO:0006719 cystic lymphangioma --> obsolete cystic lymphangioma
MONDO:0006818 keratoconjunctivitis sicca --> obsolete keratoconjunctivitis sicca
MONDO:0006860 mucoepidermoid tumor --> obsolete mucoepidermoid tumor
MONDO:0007335 OFC1 --> orofacial cleft 1
MONDO:0007386 HCVS --> human coronavirus sensitivity
MONDO:0007747 Hyperchlorhidrosis, isolated --> isolated hyperchlorhidrosis
MONDO:0007751 hypercholesterolemia, autosomal dominant, type b --> hypercholesterolemia, autosomal dominant, type B
MONDO:0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy --> palmoplantar keratoderma-hereditary motor a
nd sensory neuropathy syndrome
MONDO:0007928 Fechtner syndrome --> obsolete Fechtner syndrome
MONDO:0007929 Epstein syndrome --> obsolete Epstein syndrome
MONDO:0008272 polysyndactyly --> polysyndactyly 4
MONDO:0008289 porencephaly 1 --> brain small vessel disease 1 with or without ocular anomalies
MONDO:0008338 autosomal dominant multiple pterygium syndrome --> contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
MONDO:0008419 IS1 --> scoliosis, isolated, susceptibility to, 1
MONDO:0008594 FMDF --> familial multiple discoid fibromas
MONDO:0009093 Dermatoleukodystrophy --> dermatoleukodystrophy
MONDO:0009925 inherited pseudoxanthoma elasticum --> autosomal recessive inherited pseudoxanthoma elasticum
MONDO:0010385 X-linked lymphoproliferative syndrome 2 --> X-linked lymphoproliferative disease due to XIAP deficiency
MONDO:0010530 anus, imperforate --> obsolete anus, imperforate
MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness --> obsolete macrothrombocytopenia and progressive sensorineural deafness
MONDO:0010927 OFC3 --> orofacial cleft 3
MONDO:0011276 OFC2 --> orofacial cleft 2
MONDO:0011374 autosomal recessive hypercholesterolemia --> hypercholesterolemia, familial, 4
MONDO:0011526 Sebastian syndrome --> obsolete Sebastian syndrome
MONDO:0011769 familial aortic dissection --> obsolete familial aortic dissection
MONDO:0011820 IS2 --> scoliosis, isolated, susceptibility to, 2
MONDO:0011865 COL4A1-related familial vascular leukoencephalopathy --> obsolete COL4A1-related familial vascular leukoencephalopathy
MONDO:0012022 OFC4 --> orofacial cleft 4
MONDO:0012115 IS3 --> scoliosis, isolated, susceptibility to, 3
MONDO:0012478 OFC9 --> orofacial cleft 9
MONDO:0012826 IS4 --> scoliosis, isolated, susceptibility to, 4
MONDO:0012827 IS5 --> scoliosis, isolated, susceptibility to, 5
MONDO:0013803 LCC --> leukoencephalopathy with calcifications and cysts
MONDO:0014953 intellectual developmental disorder with cardiac arrhythmia --> gnb5-related intellectual disability-cardiac arrhythmia syndrome
MONDO:0015078 gastroenteropancreatic neuroendocrine neoplasm --> obsolete gastroenteropancreatic neuroendocrine neoplasm
MONDO:0016569 rare lymphatic malformation --> obsolete rare lymphatic malformation
MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia --> spondylo-epi-(meta)-physeal dysplasia
MONDO:0017141 rare hemorrhagic disorder due to a constitutional thrombocytopenia --> hemorrhagic disorder due to a constitutional thrombocytopenia
MONDO:0017142 rare hemorrhagic disorder due to a qualitative platelet defect --> hemorrhagic disorder due to a qualitative platelet defect
MONDO:0017425 Preaxial polydactyly of fingers --> preaxial polydactyly of fingers
MONDO:0018838 lissencephaly (disease) --> lissencephaly spectrum disorders
MONDO:0019097 rare hemorrhagic disorder due to a constitutional platelet anomaly --> hemorrhagic disorder due to a constitutional platelet anomaly
MONDO:0020395 valvular pulmonary stenosis --> valvar pulmonary stenosis
MONDO:0021971 Baraitser Rodeck garner syndrome --> obsolete Baraitser Rodeck garner syndrome
MONDO:0022263 congenital hepatic fibrosis --> obsolete congenital hepatic fibrosis
MONDO:0023097 exostoses anetodermia brachydactyly type E --> obsolete exostoses anetodermia brachydactyly type E
MONDO:0024267 epidemic encephalitis --> obsolete epidemic encephalitis
MONDO:0024551 lymphoproliferative syndrome, X-linked, 1 --> X-linked lymphoproliferative disease due to SH2D1A deficiency
MONDO:0029134 immunodeficiency 58 --> severe combined immunodeficiency due to CARMIL2 deficiency
MONDO:0043291 rokitansky-aschoff sinuses of the gallbladder --> Rokitansky-Aschoff sinuses of the gallbladder
MONDO:0054865 encephalopathy due to defective mitochondrial and peroxisomal fission --> encephalopathy due to mitochondrial and peroxisomal fission
defect
MONDO:0060582 auditory neuropathy and optic atrophy --> auditory neuropathy-optic atrophy syndrome
MONDO:0100096 2019 novel coronavirus infection --> COVID-19
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