August release

2019-07-28 release

• renamed MONDO_0013308, added text def, revised superclass. Closes #623
• add exclude annotatioin to synonym on 'infectious disease'. closes #750
• remove synonyms from 'infectious disease'. addresses #750
• remove 'root caused synonym from MONDO_0005550. addresses #750
• ordo xrefs
• Adding new ordo xrefs
• add new term MONDO:0100079 cardioectodermal syndrome. Closes #577
• rename term MONDO:0011581. addresses #577
• COFS syn AP fixes #761
• hgnc xref fixes
• add jenny's orcid. Addresses #735
• revise label for MONDO:0009607. Closes #735

New Classes

• MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
• MONDO:0020743 mixed phenotype acute leukemia
• MONDO:0020810 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
• MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome
• MONDO:0020871 obsolete name syndrome
• MONDO:0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
• MONDO:0022399 retinal ciliopathy due to mutation in the rpgr gene
• MONDO:0022400 retinal ciliopathy due to mutation in the rpgrip gene
• MONDO:0022404 retinal ciliopathy due to mutation in usher gene
• MONDO:0022405 retinal ciliopathy due to mutation in nephronophthisis gene
• MONDO:0022407 retinal ciliopathy due to mutation in bardet-biedl gene
• MONDO:0022409 nephropathy-associated ciliopathy
• MONDO:0022410 retinal ciliopathy
• MONDO:0100076 juvenile idiopathic scoliosis
• MONDO:0100079 cardioectodermal syndrome

Obsoletions

Renaming

• MONDO:0001032 Mooren's ulcer --> Mooren ulcer
• MONDO:0007253 cancer, familial, with 1N vitro Radioresistance --> cancer, familial, with in vitro Radioresistance
• MONDO:0007431 dens 1N dente and palatal invaginations --> dens in dente and palatal invaginations
• MONDO:0007643 gamma-A-globulin, defect 1N assembly of --> gamma-A-globulin, defect in assembly of
• MONDO:0007913 low density lipoprotein, variation 1N molecular weight of --> low density lipoprotein, variation in molecular weight of
• MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine --> neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
• MONDO:0008326 pseudocholinesterase, increase 1N plasma level of --> pseudocholinesterase, increase in plasma level of
• MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect 1N porphyrin metabolism --> anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
• MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis --> granulomatous disease with defect in neutrophil chemotaxis
• MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria --> hyperlysinemia due to defect in lysine transport into mitochondria
• MONDO:0009391 hypermetabolism due to defect 1N mitochondria --> hypermetabolism due to defect in mitochondria
• MONDO:0009436 hypothalamic hamartomas --> congenital hypothalamic hamartoma syndrome
• MONDO:0009457 immunoglobulin d level 1N plasma, low --> immunoglobulin d level in plasma, low
• MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency --> methionine adenosyltransferase deficiency
• MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport --> mitochondrial myopathy with a defect in mitochondrial-protein transport
• MONDO:0009776 SPGF1 --> spermatogenic failure 1
• MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations 1N the male --> radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
• MONDO:0010381 Tn Polyagglutination syndrome --> Tn polyagglutination syndrome
• MONDO:0010507 Xq25 duplication syndrome --> Xq25 microduplication syndrome
• MONDO:0010962 palmoplantar keratoderma, nonepidermolytic --> diffuse nonepidermolytic palmoplantar keratoderma
• MONDO:0010982 ichthyosis-mental retardation syndrome with large keratohyalin granules 1N the skin --> ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
• MONDO:0011111 horns 1N sheep --> horns in sheep
• MONDO:0011141 folate level 1N erythrocytes --> folate level in erythrocytes
• MONDO:0011310 long chain fatty acids, defect 1N transport of --> long chain fatty acids, defect in transport of
• MONDO:0011581 dilated cardiomyopathy with woolly hair and keratoderma --> arrhythmogenic cardiomyopathy with woolly hair and keratoderma
• MONDO:0013308 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia --> CBL-related disorder
• MONDO:0014263 Verheij syndrome --> 8q24.3 microdeletion syndrome
• MONDO:0014869 hydrops, lactic acidosis, and sideroblastic anemia --> hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
• MONDO:0014975 spastic paraplegia 78, autosomal recessive --> autosomal recessive spastic paraplegia type 78
• MONDO:0015006 epidermolysis bullosa simplex, generalized, with scarring and hair loss --> generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
• MONDO:0019183 rare genetic odontologic disease --> inherited odontologic disease
• MONDO:0023204 Fukuda Miyanomae Nakata syndrome --> Fukuda-Miyanomae-Nakata syndrome
• MONDO:0029132 liddle syndrome 3 --> Liddle syndrome 3
• MONDO:0044304 hyperphenylalaninemia, mild, non-bh4-deficient --> hyperphenylalaninemia due to DNAJC12 deficiency