v2021-10-01
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4792 commits
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since this release
New Classes
- MONDO:0023655 immunodeficiency 14b, autosomal recessive
- MONDO:0023657 intellectual developmental disorder, autosomal dominant 65
- MONDO:0023659 developmental and epileptic encephalopathy 96
- MONDO:0023660 angioedema, hereditary, 6
- MONDO:0023662 lymphatic malformation 10
- MONDO:0023664 spermatogenic failure 54
- MONDO:0023671 oculopharyngodistal myopathy 3
- MONDO:0100050 Usher syndrome, type 1D/F
- MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements
- MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements
- MONDO:0100067 childhood spindle cell rhabdomyosarcoma
- MONDO:0100077 congenital alveolar dysplasia
- MONDO:0100090 congenital alveolar dysplasia due to FGF10
- MONDO:0100097 congenital alveolar dysplasia due to TBX4
- MONDO:0100099 retrograde cricopharyngeus dysfunction
- MONDO:0100109 Zinner syndrome
- MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome
- MONDO:0600016 acinar dysplasia
- MONDO:0600017 acinar dysplasia caused by mutation in FGF10
- MONDO:0600018 acinar dysplasia caused by mutation in FGFR2
- MONDO:0600019 acinar dysplasia caused by mutation in TBX4
- MONDO:0600027 congenital right-sided heart lesions
- MONDO:0600029 restrictive pulmonary disease
- MONDO:0700091 ring chromosome anomaly
- MONDO:0700092 neurodevelopmental disorder
Obsoletions
- MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation --> obsolete acute myeloid leukemia, NPM1 gene mutation
Renaming
- MONDO:0010177 retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome --> vascular hyalinosis
- MONDO:0014327 autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering --> palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- MONDO:0018702 TAFRO syndrome --> Castleman-Kojima disease
- MONDO:0023603 hereditary connective tissue disorder --> hereditary disorder of connective tissue
- MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation --> obsolete acute myeloid leukemia, NPM1 gene mutation