2018-10-14 release
·
10545 commits
to master
since this release
- reclassified MONDO:0019079 ‘proximal spinal muscular atrophy’ a subclass of MONDO:0001516 ‘spinal muscular atrophy’ and fixed typos in def of MONDO:0001516 ‘s #350
- added new term MONDO_0100062 'developmental and epileptic encephalopathy' closes #332
- Fixes #271
- renamed MONDO_0015967 to monogenic diabetes closes #337
- added new term MONDO_0100061 'PRPS1 deficiency disorder' closes #358
- replaced superclass for 'Huntington disease' closes #358
- Performed sync with multiple sources
- added new monogenic diseases
- gap-filled neoplasm classes
- added new term: MONDO_0100059 'hypereosinophilia of undetermined sign…' #272
- merged terms Ito hypomelanosis (MONDO:0010302) & incontinentia pigmenti achromians (MONDO:0006562). #351
Obsoletions
- obsolete incontinentia pigmenti achromians
- obsolete favism, susceptibility to
- obsolete giant platelet syndrome with thrombocytopenia
New Classes
- premalignant hematological system disease
- classic congenital adrenal hyperplasia
- hypereosinophilia of undetermined significance
- PRPS1 deficiency disorder
- developmental and epileptic encephalopathy
- congenital anemia
- congenital hematological disorder
- oocyte maturation defect 5
- methemoglobinemia, alpha type
- spermatogenic failure 30
- intellectual disability, autosomal recessive 65
- mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
- ovarian dysgenesis 7
- bone marrow failure syndrome 4
- spermatogenic failure 32
- Liddle syndrome 2
- encephalitis/encephalopathy, mild, with reversible myelin vacuolization
- spermatogenic failure 31
- pulmonary alveolar proteinosis with hypogammaglobulinemia
- osteopetrosis, autosomal dominant 3
- mental retardation, autosomal dominant 58
- mental retardation, autosomal recessive 64
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5
- neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- immunodeficiency 57
- obsolete blood group--ok
- obsolete blood group, mn
- obsolete blood group system, landsteiner-wiener
- obsolete blood group--lutheran system
- obsolete blood group--lke
- obsolete blood group, kidd system
- obsolete blood group--kell system
- obsolete blood group, diego system
- obsolete blood group, langereis system
- obsolete blood group--private systems
- sex-linked disease
- X-linked recessive disease
- X-linked dominant disease
- X-linked chondrodysplasia punctata 2
- Simpson-Golabi-Behmel syndrome type 1
- mosquito-borne viral encephalitis
- acute pharyngitis
- obsolete blood group, colton system
- obsolete blood group--ahonen
- Liddle syndrome 1
- epileptic encephalopathy, infantile or early childhood, 2
- epileptic encephalopathy, infantile or early childhood, 1
- epileptic encephalopathy, infantile or early childhood, 3
- obsolete blood group, ss
- microcephaly, growth restriction, and increased sister chromatid exchange 2
- epileptic encephalopathy, infantile or early childhood
- obsolete yt blood group antigen
- obsolete blood group--wright antigen
- obsolete blood group--waldner type
- obsolete blood group--ul system
- obsolete blood group--stoltzfus system
- obsolete blood group--scianna system
- microcephaly, growth restriction and increased sister chromatid exchange
- cutaneous vasculitis
- polymorphic ventricular tachycardia
- central nervous system nongerminomatous germ cell tumor
- mucositis
- obsolete vitamin D deficiency
- childhood gonadal germ cell tumor
- mycobacterial infectious disease
- malabsorption syndrome
- angiokeratoma of scrotum
- mucin-producing carcinoma
- disease of retroperitoneum
- abducens nerve disease
- trichoblastoma
- disease pf pharynx
- disease of peritoneum
- acquired coagulation factor deficiency
- factor XI deficiency
- factor V deficiency
- anemia due to erythrocyte enzyme disorder
- anemia due to enzyme disorder
- chromosome 17 abnormality
- benign uterine ligament neoplasm
- benign pecoma
- germinomatous germ cell tumor
- cardiac germ cell tumor
- lung pecoma