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Autosomal anomaly

MONDO:0020049

Chromosomal disorder in which the chromosomal anomaly involves an autosome.

Also known as: autosome chromosomal anomaly, chromosomal anomaly of autosome

195 clinical trials for this condition and its sub-types, 0 tagged with Autosomal anomaly itself.

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Where it sits in the disease tree

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↑ Chromosomal disorder (278)

Sub-types of Autosomal anomaly

Chromosome 21 disorder 0 trials · 138 incl. sub-types
6 sub-types
- Down syndrome 136 trials · 138 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 21 0 trials
- Monosomy 21 0 trials
- Paternal uniparental disomy of chromosome 21 0 trials
- Ring chromosome 21 0 trials
- Tetrasomy 21 0 trials
Chromosome 17 disorder 0 trials · 29 incl. sub-types
4 sub-types
- Partial duplication of chromosome 17 0 trials · 19 incl. sub-types Sub-types →
- Partial deletion of chromosome 17 0 trials · 12 incl. sub-types Sub-types →
- Mosaic trisomy 17 0 trials
- Ring chromosome 17 0 trials
Chromosome 7 disorder 0 trials · 19 incl. sub-types
6 sub-types
- Partial deletion of chromosome 7 0 trials · 18 incl. sub-types Sub-types →
- Partial duplication of chromosome 7 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 7 0 trials
- Paternal uniparental disomy of chromosome 7 0 trials
- Ring chromosome 7 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
Chromosome 5 disorder 0 trials · 8 incl. sub-types
5 sub-types
- Partial deletion of chromosome 5 0 trials · 5 incl. sub-types Sub-types →
- Partial trisomy/tetrasomy of chromosome 5 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 5 0 trials
- Paternal uniparental disomy of chromosome 5 0 trials
- Ring chromosome 5 0 trials
Chromosome 18 disorder 1 trial · 4 incl. sub-types
6 sub-types
- Trisomy 18 3 trials Sub-types →
- Chromosome 18 mosaic monosomy 0 trials
- Chromosome 18 pericentric inversion 0 trials
- Partial deletion of chromosome 18 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 18 0 trials Sub-types →
- Ring chromosome 18 0 trials
Chromosome 13 disorder 0 trials · 4 incl. sub-types
6 sub-types
- Trisomy 13 4 trials Sub-types →
- Chromosome 13q-mosaicism 0 trials
- Maternal uniparental disomy of chromosome 13 0 trials
- Partial duplication of chromosome 13 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 13 0 trials
- Ring chromosome 13 0 trials
Chromosome 10 disorder 0 trials · 2 incl. sub-types
4 sub-types
- Partial deletion of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Mosaic trisomy 10 0 trials
- Ring chromosome 10 0 trials
Chromosome 2 disorder 0 trials · 2 incl. sub-types
5 sub-types
- Partial deletion of chromosome 2 0 trials · 2 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 2 0 trials
- Mosaic trisomy 2 0 trials
- Partial duplication of chromosome 2 0 trials Sub-types →
- Ring chromosome 2 0 trials
Chromosome 8 disorder 0 trials · 2 incl. sub-types
6 sub-types
- Chromosome 8, trisomy 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 8 0 trials · 1 incl. sub-types Sub-types →
- 8p inverted duplication/deletion syndrome 0 trials
- Chromosome 8-derived supernumerary ring/marker 0 trials
- Monosomy chromosome 8 0 trials
- Partial duplication of chromosome 8 0 trials Sub-types →
Chromosome 1 disorder 0 trials · 1 incl. sub-types
7 sub-types
- Partial deletion of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 1, uniparental disomy 1q12 q21 0 trials
- Maternal uniparental disomy of chromosome 1 0 trials
- Mosaic trisomy 1 0 trials
- Paternal uniparental disomy of chromosome 1 0 trials
- Ring chromosome 1 0 trials
Chromosome 11 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 11 0 trials · 1 incl. sub-types Sub-types →
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 0 trials
- Partial duplication of chromosome 11 0 trials Sub-types →
- Ring chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
Chromosome 14 disorder 0 trials · 1 incl. sub-types
4 sub-types
- Paternal uniparental disomy of chromosome 14 1 trial
- Maternal uniparental disomy of chromosome 14 0 trials
- Mosaic trisomy 14 0 trials
- Ring chromosome 14 0 trials
Chromosome 16 disorder 0 trials · 1 incl. sub-types
6 sub-types
- Partial deletion of chromosome 16 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 16 inversion, 0.45-Mb 0 trials
- Chromosome 16 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 16 0 trials
- Partial duplication of chromosome 16 0 trials Sub-types →
- Ring chromosome 16 0 trials
Chromosome 3 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 3 duplication syndrome 0 trials
- Mosaic trisomy 3 0 trials
- Ring chromosome 3 0 trials
Chromosome 12 disorder 0 trials
4 sub-types
- Mosaic trisomy 12 0 trials
- Partial deletion of chromosome 12 0 trials Sub-types →
- Partial duplication of chromosome 12 0 trials Sub-types →
- Ring chromosome 12 0 trials
Chromosome 15 disorder 0 trials
4 sub-types
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Mosaic trisomy 15 0 trials
- Ring chromosome 15 0 trials
Chromosome 19 disorder 0 trials
3 sub-types
- Partial deletion of chromosome 19 0 trials Sub-types →
- Partial duplication of chromosome 19 0 trials Sub-types →
- Ring chromosome 19 0 trials
Chromosome 20 disorder 0 trials
6 sub-types
- Chromosome 20 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 20 0 trials
- Partial deletion of chromosome 20 0 trials Sub-types →
- Partial trisomy of chromosome 20 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 20 0 trials
- Ring chromosome 20 0 trials
Chromosome 22 disorder 0 trials
4 sub-types
- Maternal uniparental disomy of chromosome 22 0 trials
- Monosomy 22 0 trials Sub-types →
- Ring chromosome 22 0 trials
- Trisomy 22 0 trials Sub-types →
Chromosome 4 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 4 0 trials
- Mosaic trisomy 4 0 trials
- Partial deletion of chromosome 4 0 trials Sub-types →
- Partial duplication of chromosome 4 0 trials Sub-types →
- Ring chromosome 4 0 trials
Chromosome 6 disorder 0 trials
6 sub-types
- Maternal uniparental disomy of chromosome 6 0 trials
- Mosaic trisomy 6 0 trials
- Partial deletion of chromosome 6 0 trials Sub-types →
- Partial duplication of chromosome 6 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 6 0 trials
- Ring chromosome 6 0 trials
Chromosome 9 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 9 0 trials
- Mosaic trisomy 9 0 trials
- Partial deletion of chromosome 9 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 9 0 trials Sub-types →
- Ring chromosome 9 0 trials

Most studied deeper sub-types

Williams syndrome (18) Charcot-Marie-Tooth disease type 1A (16) Trisomy 21 (9) Chromosome 17p deletion (6) Hereditary neuropathy with liability to pressure palsies (4) 7q11.23 microduplication syndrome (3) Adult-onset autosomal dominant demyelinating leukodystrophy (3) Cri-du-chat syndrome (2) Myelodysplastic syndrome associated with isolated del(5q) (2) Translocation Down syndrome (2) 16p13.11 microdeletion syndrome (1) 17q11.2 microduplication syndrome (1) 2q37 microdeletion syndrome (1) Chromosome 16p12.2-p11.2 deletion syndrome (1) Chromosome 17p13.1 deletion syndrome (1) Chromosome 17q12 deletion syndrome (1) Chromosome 17q12 duplication syndrome (1) Chromosome 1q21.1 deletion syndrome (1) Chromosome 1q21.1 duplication syndrome (1) Chromosome 2q32-q33 deletion syndrome (1)

Including sub-types (195) Tagged with Autosomal anomaly (0)

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