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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;   Chromosome Abnormality Disorder;   Chromosome Abnormality Disorders;   autosomal chromosome disorders;   chromosomal disorders;   chromosome disorder;   chromosome disorders
 xref: EFO:0003831;   MESH:D025063;   MONDO:0019040



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    Term Annotations click to browse term
      disease 19100
        Developmental Disease 14598
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
            Congenital Abnormalities 7780
              chromosomal disease 3048
                16Q24.3 Microdeletion Syndrome 31
                6q+ Syndrome, Partial 0
                7p2 Monosomy Syndrome 0
                9q22.3 Microdeletion 0
                Angelman syndrome 30
                Beckwith-Wiedemann syndrome + 72
                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 + 1590
                Cornelia de Lange syndrome + 49
                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 + 80
                Silver-Russell syndrome + 20
                Sotos syndrome + 67
                Thrombocytopenia 2 3
                Trisomy 18-Like Syndrome 0
                Warburton Anyane Yeboa Syndrome 1
                branchiootorenal syndrome + 13
                chromosomal duplication syndrome + 1287
                deafness, dystonia, and cerebral hypomyelination 5
                holoprosencephaly + 223
                mosaic variegated aneuploidy syndrome + 55
                ring chromosome syndrome + 0
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