monarch-initiative/mondo: v2022-05-02

Overview: Number of new terms: 391 Number of changed labels: 24 Number of changed definitions: 13 Number obsoleted terms: 47 Number of new obsoletion candidates: 35 Number of terms who were previously candidate for obsoletion and are now not anymore: 0 New terms Mondo ID Label Definition MONDO:0000140 obsolete MONDO:0000140 MONDO:0000528 obsolete MONDO:0000528 MONDO:0000529 obsolete MONDO:0000529 MONDO:0000559 obsolete MONDO:0000559 MONDO:0000575 obsolete MONDO:0000575 MONDO:0000817 obsolete MONDO:0000817 MONDO:0000821 obsolete MONDO:0000821 MONDO:0000823 obsolete MONDO:0000823 MONDO:0000842 obsolete MONDO:0000842 MONDO:0000843 obsolete MONDO:0000843 MONDO:0000915 obsolete MONDO:0000915 MONDO:0001201 obsolete MONDO:0001201 MONDO:0001605 obsolete MONDO:0001605 MONDO:0001659 obsolete MONDO:0001659 MONDO:0002733 obsolete MONDO:0002733 MONDO:0002773 obsolete MONDO:0002773 MONDO:0002780 obsolete MONDO:0002780 MONDO:0003323 obsolete MONDO:0003323 MONDO:0003576 obsolete MONDO:0003576 MONDO:0003597 obsolete MONDO:0003597 MONDO:0003625 obsolete MONDO:0003625 MONDO:0003986 obsolete MONDO:0003986 MONDO:0004036 obsolete MONDO:0004036 MONDO:0004137 obsolete MONDO:0004137 MONDO:0004347 obsolete MONDO:0004347 MONDO:0004915 obsolete MONDO:0004915 MONDO:0004916 obsolete MONDO:0004916 MONDO:0005274 obsolete MONDO:0005274 MONDO:0005332 obsolete MONDO:0005332 MONDO:0005681 obsolete MONDO:0005681 MONDO:0005713 obsolete MONDO:0005713 MONDO:0005860 obsolete MONDO:0005860 MONDO:0006023 obsolete MONDO:0006023 MONDO:0006707 obsolete MONDO:0006707 MONDO:0006885 obsolete MONDO:0006885 MONDO:0014188 obsolete MONDO:0014188 MONDO:0014913 obsolete MONDO:0014913 MONDO:0020758 obsolete MONDO:0020758 MONDO:0021307 obsolete MONDO:0021307 MONDO:0021690 obsolete congenital left ventricular aneurysm OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055] MONDO:0023539 obsolete MONDO:0023539 MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease MONDO:0024581 obsolete MONDO:0024581 MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0024773 spermatogenic failure, x-linked, 4 MONDO:0024812 obsolete MONDO:0024812 MONDO:0024987 obsolete genetic urogenital tract malformation MONDO:0026141 obsolete genetic urticaria MONDO:0026150 obsolete genetic erythrokeratoderma MONDO:0026151 obsolete genetic acrokeratoderma MONDO:0026152 obsolete genetic porokeratosis MONDO:0026157 obsolete genetic pigmentation anomaly of the skin MONDO:0026160 obsolete genetic dermis disorder MONDO:0026166 obsolete genetic immune deficiency with skin involvement MONDO:0026167 obsolete genetic neuromuscular disease MONDO:0026170 obsolete genetic central nervous system malformation MONDO:0026173 obsolete rare genetic medullar disease MONDO:0026180 obsolete genetic congenital limb malformation MONDO:0026181 obsolete genetic renal or urinary tract malformation MONDO:0026182 obsolete genetic cranial malformation MONDO:0026183 obsolete genetic digestive tract malformation MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0026185 obsolete genetic respiratory or mediastinal malformation MONDO:0026186 obsolete genetic developmental defect of the eye MONDO:0026187 obsolete genetic malformation syndrome with short stature MONDO:0026188 obsolete genetic overgrowth/obesity syndrome MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0026192 obsolete genetic glomerular disease MONDO:0026193 obsolete genetic thrombotic microangiopathy MONDO:0026203 obsolete genetic respiratory malformation MONDO:0026209 obsolete genetic polyendocrinopathy MONDO:0026419 obsolete isolated corpus callosum agenesis OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200] MONDO:0026989 obsolete syndrome associated with hypertrophic cardiomyopathy MONDO:0027929 obsolete genetic polycythemia MONDO:0028569 obsolete genetic interstitial lung disease MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood MONDO:0029051 obsolete autosomal recessive nail dysplasia OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654] MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0029810 obsolete laminopathy with striated muscle involvement MONDO:0029811 obsolete laminopathy with peripheral neuropathy MONDO:0029812 obsolete laminopathy with lipodystrophy MONDO:0029813 obsolete laminopathy with premature aging MONDO:0030016 obsolete MONDO:0030016 MONDO:0030052 obsolete disease with punctate palmoplantar keratoderma as a major feature MONDO:0030407 obsolete rare disease with Cushing syndrome as a major feature MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction MONDO:0030539 central hypoventilation syndrome, congenital, 3 MONDO:0030549 hearing loss, autosomal dominant 81 MONDO:0030608 interstitial lung disease 1 MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 MONDO:0030639 Teebi hypertelorism syndrome MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0030674 Teebi hypertelorism syndrome 2 MONDO:0030676 parkinsonism-dystonia 3, childhood-onset MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:0030679 Noonan syndrome 14 MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030692 immunodeficiency 95 MONDO:0030693 immunodeficiency 96 MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0030697 myopia 28, autosomal recessive MONDO:0030711 anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0030714 osteogenesis imperfecta, IIA 22 MONDO:0030716 spermatogenic failure 66 MONDO:0030717 immunodeficiency 97 with autoinflammation MONDO:0030718 spermatogenic failure 67 MONDO:0030719 deafness, autosomal dominant 82 MONDO:0030721 spermatogenic failure 68 MONDO:0030723 hearing loss, autosomal dominant 83 MONDO:0030724 hearing loss, autosomal dominant 84 MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0030731 aortic aneurysm, familial thoracic 12 MONDO:0030732 spermatogenic failure 69 MONDO:0030733 spermatogenic failure 70 MONDO:0030736 ovarian dysgenesis 10 MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest MONDO:0031016 obsolete genetic disorder of sex development MONDO:0031115 dyskinesia with orofacial involvement MONDO:0031199 inherited interstitial lung disease MONDO:0031322 triopia A craniofacial malformation with prosencephalic duplication; the presence of three eyes. MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031689 obsolete genetic progeroid syndrome MONDO:0031697 obsolete genetic intractable diarrhea of infancy MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption MONDO:0031799 obsolete rare bone disease related to a common gene or pathway defect MONDO:0031949 obsolete genetic neurovascular malformation MONDO:0031952 obsolete genetic syndromic esophageal malformation MONDO:0032011 obsolete biological anomaly OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790] MONDO:0032013 obsolete clinical syndrome OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism

Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.