Human Chromosome 21

Preferred Label : Human Chromosome 21;

NCIt related terms : chr21; Chromosome 21;

NCIt definition : The designation for each member of the second smallest human autosomal chromosome pair. Chromosome 21 spans around 47 million nucleotides and represents about 1.5% of the total DNA in normal diploid cells.;

Details

Origin ID

C13217;

UMLS CUI

C0008664;

Anatomic structure is physical part of
- Chromatin [NCIt concept]
Contains anatomical structure(s)
- 21p [NCIt concept]
- 21q [NCIt concept]
Semantic type(s)
- Cell Component [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome pair 21 [FMA entity]
- Chromosome pair 21 (cell structure) [SNOMED CT concept]
- chromosome pair 21 [SNOMED Notion]
- chromosomes, human, pair 21 [MeSH concept]
- chromosomes, human, pair 21 [MeSH Descriptor]
chromosome_involved_in_cytogenetic_abnormality
- ERG Gene Rearrangement [NCIt concept]
- Gain of Chromosome 21 [NCIt concept]
- Intrachromosomal Amplification of Chromosome 21 [NCIt concept]
- Loss of Chromosome 21 [NCIt concept]
- Monosomy 21 [NCIt concept]
- RUNX1 Gene Rearrangement [NCIt concept]
- Rearrangement of 21q [NCIt concept]
- TMPRSS2 Gene Rearrangement [NCIt concept]
- Trisomy 21 [NCIt concept]
- Trisomy 21 Mosaicism [NCIt concept]
- der(15;21)(q10;q10) [NCIt concept]
- t(12;21) [NCIt concept]
- t(12;21)(p13.2;q22.1) [NCIt concept]
- t(16;21)(p11;q22) [NCIt concept]
- t(16;21)(q24;q22) [NCIt concept]
- t(17;21)(q11;q22) [NCIt concept]
- t(1;21)(p36;q22) [NCIt concept]
- t(21;22) [NCIt concept]
- t(21;22)(q22;q12) [NCIt concept]
- t(3;21)(q21;q26) [NCIt concept]
- t(3;21)(q26;q22) [NCIt concept]
- t(5;21)(q13;q22) [NCIt concept]
- t(8;21) [NCIt concept]
- t(8;21)(q22;q22) [NCIt concept]
chromosome_mapped_to_disease
- Complete Trisomy 21 Syndrome [NCIt concept]
- Down Syndrome [NCIt concept]
- Holoprosencephaly Type 1 [NCIt concept]
- Ring Chromosome 21 Syndrome [NCIt concept]
- Robertsonian Translocation Down Syndrome [NCIt concept]
concept_is_in_subset
- CTDC Value Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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