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 Syndrome
• MONDO:0100145 presymptomatic COVID-19 infection
• MONDO:0100146 ATP6AP2-related disorder
• MONDO:0100147 SATB2 associated disorder
• MONDO:0100148 X-linked complex neurodevelopmental disorder
• MONDO:0100150 RYR1-related myopathy
• MONDO:0100151 nephropathic cystinosis
• MONDO:0100152 DKC1-related disorder
• MONDO:0100156 Imerslund-Grasbeck syndrome type 1
• MONDO:0100157 Imerslund-Grasbeck syndrome type 2
• MONDO:0100160 alcoholic ketoacidosis
• MONDO:0100161 hyperkalemic renal tubular acidosis
• MONDO:0100163 SARS-CoV-2 Kawasaki-like syndrome
• MONDO:0100164 permanent neonatal diabetes mellitus
• MONDO:0100165 permanent neonatal diabetes mellitus 1

Obsoletions

• MONDO:0000275 monogenic disease --> obsolete monogenic disease
• MONDO:0000312 enlarged vestibular aqueduct --> obsolete enlarged vestibular aqueduct
• MONDO:0001018 lymphoblastic leukemia --> obsolete lymphoblastic leukemia
• MONDO:0002144 hyperuricemia (disease) --> obsolete hyperuricemia (disease)
• MONDO:0003794 mediastinal neurilemmoma --> obsolete mediastinal neurilemmoma
• MONDO:0003817 peritoneal serous papillary adenocarcinoma --> obsolete peritoneal serous papillary adenocarcinoma
• MONDO:0007117 angioedema, hereditary, type 1/2 --> obsolete angioedema, hereditary, type 1/2
• MONDO:0007464 isolated distichiasis --> obsolete isolated distichiasis
• MONDO:0008117 oculopharyngodistal myopathy --> obsolete oculopharyngodistal myopathy
• MONDO:0009995 rheumatic fever-related antigen --> obsolete rheumatic fever-related antigen
• MONDO:0010254 hematopoietic stem cell kinetics, control of --> obsolete hematopoietic stem cell kinetics, control of
• MONDO:0010804 BRCATA --> obsolete BRCATA
• MONDO:0011543 BRCA3 --> obsolete BRCA3
• MONDO:0011643 permanent neonatal diabetes mellitus --> obsolete permanent neonatal diabetes mellitus
• MONDO:0011794 Dravet syndrome --> obsolete Dravet syndrome
• MONDO:0013001 synesthesia --> obsolete synesthesia
• MONDO:0014964 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum --> obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
• MONDO:0015373 Saldino-Mainzer syndrome --> obsolete Saldino-Mainzer syndrome
• MONDO:0015878 rare disease with autism --> obsolete rare disease with autism
• MONDO:0015881 rare gastroesophageal tumor --> obsolete gastroesophageal tumor
• MONDO:0016849 Nakajo-Nishimura syndrome --> obsolete Nakajo-Nishimura syndrome
• MONDO:0017959 JMP syndrome --> obsolete JMP syndrome
• MONDO:0017960 CANDLE syndrome --> obsolete CANDLE syndrome
• MONDO:0018797 genetic cardiac malformation --> obsolete genetic cardiac malformation
• MONDO:0020006 rare hematologic disease --> obsolete rare hematologic disease
• MONDO:0020136 neurodegenerative disease with dementia --> obsolete neurodegenerative disease with dementia
• MONDO:0020184 rare eyebrow/eyelashes anomaly --> obsolete rare eyebrow/eyelashes anomaly
• MONDO:0020185 eyebrow/eyelashes hypertrichosis --> obsolete eyebrow/eyelashes hypertrichosis
• MONDO:0020186 eyebrow hypertrophy --> obsolete eyebrow hypertrophy
• MONDO:0020187 eyelashes hypertrophy --> obsolete eyelashes hypertrophy
• MONDO:0020188 congenital absence of the eyebrow/eyelashes --> obsolete congenital absence of the eyebrow/eyelashes
• MONDO:0020189 eyebrow/eyelashes structural anomaly --> obsolete eyebrow/eyelashes structural anomaly
• MONDO:0020190 eyebrow/eyelashes distichiasis --> obsolete eyebrow/eyelashes distichiasis
• MONDO:0020191 eyebrow/eyelashes pigmentation anomaly --> obsolete eyebrow/eyelashes pigmentation anomaly
• MONDO:0021725 Abderhalden-Kaufmann-Lignac syndrome --> obsolete Abderhalden-Kaufmann-Lignac syndrome
• MONDO:0043606 pathologic fracture --> obsolete pathologic fracture

Renaming

• MONDO:0000275 monogenic disease --> obsolete monogenic disease
• MONDO:0000312 enlarged vestibular aqueduct --> obsolete enlarged vestibular aqueduct
• MONDO:0000447 congenital polycystic liver disease --> autosomal dominant polycystic liver disease
• MONDO:0001018 lymphoblastic leukemia --> obsolete lymphoblastic leukemia
• MONDO:0002144 hyperuricemia (disease) --> obsolete hyperuricemia (disease)
• MONDO:0003794 mediastinal neurilemmoma --> obsolete mediastinal neurilemmoma
• MONDO:0003817 peritoneal serous papillary adenocarcinoma --> obsolete peritoneal serous papillary adenocarcinoma
• MONDO:0003847 inherited genetic disease --> Mendelian disease
• MONDO:0007116 hereditary neurocutaneous malformation --> hereditary neurocutaneous angioma
• MONDO:0007117 angioedema, hereditary, type 1/2 --> obsolete angioedema, hereditary, type 1/2
• MONDO:0007464 isolated distichiasis --> obsolete isolated distichiasis
• MONDO:0007796 hypoparathyroidism, familial isolated --> hypoparathyroidism, familial isolated 1
• MONDO:0008117 oculopharyngodistal myopathy --> obsolete oculopharyngodistal myopathy
• MONDO:0008265 isolated polycystic liver disease --> polycystic liver disease 1
• MONDO:0009144 Ebstein anomaly --> Ebstein anomaly (disease)
• MONDO:0009191 Lowry-wood syndrome --> Lowry-Wood syndrome
• MONDO:0009640 mitochondrial complex I deficiency --> mitochondrial complex I deficiency, nuclear type
• MONDO:0009995 rheumatic fever-related antigen --> obsolete rheumatic fever-related antigen
• MONDO:0010254 hematopoietic stem cell kinetics, control of --> obsolete hematopoietic stem cell kinetics, control of
• MONDO:0010757 widow'S peak syndrome --> widow's peak syndrome
• MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure --> aminoglycoside-induced deafness
• MONDO:0010804 BRCATA --> obsolete BRCATA
• MONDO:0010916 polycystic kidney disease 3 --> polycystic kidney disease 3 with or without polycystic liver disease
• MONDO:0011010 Matthew-wood syndrome --> Matthew-Wood syndrome
• MONDO:0011543 BRCA3 --> obsolete BRCA3
• MONDO:0011643 permanent neonatal diabetes mellitus --> obsolete permanent neonatal diabetes mellitus
• MONDO:0011794 Dravet syndrome --> obsolete Dravet syndrome
• MONDO:0012368 neurological conditions associated with aminoacylase 1 deficiency --> aminoacylase 1 deficiency
• MONDO:0013001 synesthesia --> obsolete synesthesia
• MONDO:0013400 congenital adrenal insufficiency --> Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
• MONDO:0014796 autosomal recessive early-onset Parksinson disease 23 --> autosomal recessive early-onset Parkinson disease 23
• MONDO:0014964 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum --> obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
• MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2; --> cerebroretinal microangiopathy with calcifications and cysts 2
• MONDO:0015119 rare bronchopulmonary tumor --> bronchopulmonary tumor
• MONDO:0015373 Saldino-Mainzer syndrome --> obsolete Saldino-Mainzer syndrome
• MONDO:0015666 familial idiopathic dilatation of the right atrium --> familial idiopathic dilatation of the right atrium (disease)
• MONDO:0015777 rare adult hypothyroidism --> adult hypothyroidism
• MONDO:0015878 rare disease with autism --> obsolete rare disease with autism
• MONDO:0015881 rare gastroesophageal tumor --> obsolete gastroesophageal tumor
• MONDO:0016767 rare cutaneous lichen planus --> cutaneous lichen planus
• MONDO:0016849 Nakajo-Nishimura syndrome --> obsolete Nakajo-Nishimura syndrome
• MONDO:0017959 JMP syndrome --> obsolete JMP syndrome
• MONDO:0017960 CANDLE syndrome --> obsolete CANDLE syndrome
• MONDO:0018072 persistent truncus arteriosus --> persistent truncus arteriosus (disease)
• MONDO:0018729 rare genetic vascular tumor --> genetic vascular tumor
• MONDO:0018797 genetic cardiac malformation --> obsolete genetic cardiac malformation
• MONDO:0018858 Graham little-Piccardi-Lassueur syndrome --> Graham Little-Piccardi-Lassueur syndrome
• MONDO:0018901 left ventricular noncompaction --> left ventricular noncompaction (disease)
• MONDO:0019176 trichorhinophalangeal syndrome type 1 and 3 --> trichorhinophalangeal syndrome type I or III
• MONDO:0019268 rare epidermal disease --> epidermal disease
• MONDO:0020006 rare hematologic disease --> obsolete rare hematologic disease
• MONDO:0020136 neurodegenerative disease with dementia --> obsolete neurodegenerative disease with dementia
• MONDO:0020184 rare eyebrow/eyelashes anomaly --> obsolete rare eyebrow/eyelashes anomaly
• MONDO:0020185 eyebrow/eyelashes hypertrichosis --> obsolete eyebrow/eyelashes hypertrichosis
• MONDO:0020186 eyebrow hypertrophy --> obsolete eyebrow hypertrophy
• MONDO:0020187 eyelashes hypertrophy --> obsolete eyelashes hypertrophy
• MONDO:0020188 congenital absence of the eyebrow/eyelashes --> obsolete congenital absence of the eyebrow/eyelashes
• MONDO:0020189 eyebrow/eyelashes structural anomaly --> obsolete eyebrow/eyelashes structural anomaly
• MONDO:0020190 eyebrow/eyelashes distichiasis --> obsolete eyebrow/eyelashes distichiasis
• MONDO:0020191 eyebrow/eyelashes pigmentation anomaly --> obsolete eyebrow/eyelashes pigmentation anomaly
• MONDO:0020791 corneal dystrophy, meesmann, 1 --> corneal dystrophy, Meesmann, 1
• MONDO:0021725 Abderhalden-Kaufmann-Lignac syndrome --> obsolete Abderhalden-Kaufmann-Lignac 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:0043606 pathologic fracture --> obsolete pathologic fracture
• MONDO:0043726 multiple organ failure --> multiple organ dysfunction syndrome
• MONDO:0044325 fanconi anemia, complementation group W --> Fanconi anemia, complementation group W