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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:chromosomal disease
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Accession:DOID:0080014 term browser browse the term
Definition:A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)
Synonyms:exact_synonym: Autosomal Chromosome Disorder;   Chromosomal Disorder;   Chromosomal Disorders;   Chromosome Abnormality Disorder;   Chromosome Abnormality Disorders;   Chromosome Disorder;   autosomal chromosome disorders;   chromosome disorders
 primary_id: MESH:D025063
 xref: EFO:0003831;   MONDO:0019040


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      disease 21128
        Developmental Disease 18448
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
            Congenital Abnormalities 7567
              chromosomal disease 2729
                16Q24.3 Microdeletion Syndrome 31
                6q+ Syndrome, Partial 0
                7p2 Monosomy Syndrome 0
                9q22.3 Microdeletion 0
                Angelman syndrome 30
                Beckwith-Wiedemann syndrome + 9
                Chromosome 13q-Mosaicism 0
                Chromosome 22, Monosome Mosaic 0
                Chromosome 4, 4q Terminal Deletion Syndrome 0
                Chromosome 6 Ring Syndrome 0
                Chromosome 7 Ring Syndrome 0
                Chromosome Deletion + 1555
                Cornelia de Lange syndrome + 48
                Delayed Cranial Ossification due to CBFB Haploinsufficiency 0
                Deletion 13q Syndrome, Partial 0
                Distal Trisomy 10q Syndrome 0
                Duplication 4p Syndrome 0
                Edinburgh Malformation Syndrome 0
                Emanuel Syndrome 0
                Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type 2
                Isodicentric Chromosome 15 Syndrome 3
                Pallister Killian Syndrome 0
                Partial Duplication 15q Syndrome 0
                Partial Trisomy 3q Syndrome 0
                Prader-Willi syndrome + 17
                Recombinant Chromosome 8 Syndrome 0
                Ring Chromosome 4 Syndrome 0
                Schmid-Fraccaro Syndrome 0
                Sex Chromosome Disorders + 72
                Silver-Russell syndrome + 9
                Sotos syndrome + 67
                Thrombocytopenia 2 3
                Trisomy 18-Like Syndrome 0
                Warburton Anyane Yeboa Syndrome 1
                branchiootorenal syndrome + 13
                chromosomal duplication syndrome + 1106
                deafness, dystonia, and cerebral hypomyelination 5
                holoprosencephaly + 215
                mosaic variegated aneuploidy syndrome + 9
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