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Term:
ring chromosome syndrome
(DOID:0070620)
Annotations:
Rat: (0)
Mouse: (0)
Human: (0)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
Green Monkey: (0)
Parent Terms
Term With Siblings
Child Terms
chromosomal disease
+
Chromosome Aberrations
+
16Q24.3 Microdeletion Syndrome
6q+ Syndrome, Partial
7p2 Monosomy Syndrome
9q22.3 Microdeletion
Abnormal Karyotype
+
Aneuploidy
+
Angelman syndrome
autosomal dominant intellectual developmental disorder type FRA12A
Beckwith-Wiedemann syndrome
+
branchiootorenal syndrome
+
chromosomal duplication syndrome
+
Chromosomal Instability
+
Chromosome 13q-Mosaicism
Chromosome 22, Monosome Mosaic
Chromosome 4, 4q Terminal Deletion Syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome Breakage
+
Chromosome Deletion
+
Chromosome Inversion
Chromothripsis
Cornelia de Lange syndrome
+
deafness, dystonia, and cerebral hypomyelination
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Deletion 13q Syndrome, Partial
Distal Trisomy 10q Syndrome
Duplication 4p Syndrome
Edinburgh Malformation Syndrome
Emanuel Syndrome
Genetic Nondisjunction
+
Genetic Translocation
+
holoprosencephaly
+
immunodeficiency-centromeric instability-facial anomalies syndrome
+
Isochromosomes
Isodicentric Chromosome 15 Syndrome
Micronuclei, Chromosome-Defective
mosaic variegated aneuploidy syndrome
+
Pallister Killian Syndrome
Partial Duplication 15q Syndrome
Partial Trisomy 3q Syndrome
Polyploidy
+
Prader-Willi syndrome
+
Premature Chromatid Separation Trait
Recombinant Chromosome 8 Syndrome
Ring Chromosome 4 Syndrome
ring chromosome syndrome
+
A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. (DO)
Schmid-Fraccaro Syndrome
Sex Chromosome Aberrations
+
Sex Chromosome Disorders
+
Silver-Russell syndrome
+
Sotos syndrome
+
Thrombocytopenia 2
Trisomy 18-Like Syndrome
Warburton Anyane Yeboa Syndrome
Chromosome 1 Ring
Chromosome 10 Ring
Chromosome 12 Ring
Chromosome 13 Ring
Chromosome 15 Ring
Chromosome 17 Ring
Chromosome 18 Ring
Chromosome 19 Ring
Chromosome 21 Ring
Chromosome 22 Ring
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome 8 Ring
Chromosome 9 Ring
ring chromosome 14 syndrome
ring chromosome 20 syndrome
Ring Chromosome 4 Syndrome
Synonyms
Exact Synonyms:
RC ; ring chromosome ; ring syndrome
Alternate IDs:
DOID:9006940
Xrefs:
ICD10CM:Q93.2
;
MESH:D012303
;
ORDO:363203
Definition Sources:
https://en.wikipedia.org/wiki/Ring_chromosome
"DO" "DO",
https://pmc.ncbi.nlm.nih.gov/articles/PMC9519620/
"DO" "DO",
https://rarechromo.org/glossary/
"DO" "DO"