Monosomy 18pNeurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic reviewKagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionNew advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babiesInvolvement of long noncoding RNAs in diseases affecting the central nervous systemAccuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysisThe inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Abnormal chromosome repair and risk of developing cancer.Lessons from mice without telomerase.Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the LiteratureA review of structural brain abnormalities in Pallister-Killian syndrome.Towards a genetic-based classification of human lung cancer.Mouse models of aneuploidy.Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review
P921
Q16918398-8DA4A8F0-2AAC-486B-8876-248C2E80A126Q207133-4A29EA61-74A7-426B-862D-A0676C142BB4Q21082526-593FFAE3-DC85-4022-A293-C563771C412BQ2142496-DBDFF8DC-B41D-4706-9027-94182FDA919CQ284219-30752CC5-1FC6-401D-9019-9B8F5D254310Q457737-8A48D5B2-1103-40FC-8A70-AD1DF7965F75Q4638720-e3357627-46ac-413c-796f-bb06bd38876aQ47715-0B5A3CA7-9C30-4270-A1A1-BFF3B78BFD31Q510912-2dd8c555-4152-96e6-c0a4-c7fbc4d92242Q535364-630306D3-3A11-4D11-8E9A-5869664C66DFQ594013-EE7BC997-DFF7-4D02-BFD0-862E0D690234Q7458487-7063004c-4ac5-b3ee-54c9-2e87be38557cQ8042637-a1c00108-4a70-9f75-7978-9ce6604b4ab8
P279
description
Krankheit
@de
genetic disease that has material basis in extra, missing, or re-arranged chromosomes
@en
مرض يصيب الإنسان
@ar
name
chromosomal disease
@en
enfermedad cromosómica
@es
gaixotasun kromosomiko
@eu
kromosoma malsano
@eo
kromosomsjukdom
@nn
kromosomsykdom
@nb
maladie chromosomique
@fr
malaltia cromosòmica
@ca
Хромосомные болезни
@ru
քրոմոսոմային հիվանդություն
@hy
type
label
chromosomal disease
@en
enfermedad cromosómica
@es
gaixotasun kromosomiko
@eu
kromosoma malsano
@eo
kromosomsjukdom
@nn
kromosomsykdom
@nb
maladie chromosomique
@fr
malaltia cromosòmica
@ca
Хромосомные болезни
@ru
քրոմոսոմային հիվանդություն
@hy
altLabel
congenital chromosomal disease
@en
enfermedad cromosomica
@es
kromosomal sjukdom
@nn
kromosomal sykdom
@nb
kromosomavvik
@nb
kromosomfeil
@nb
kromosomforstyrrelse
@nb
kromosomsyndrom
@nb
Хромосомное заболевание
@ru
Хромосомные заболевания
@ru
prefLabel
chromosomal disease
@en
enfermedad cromosómica
@es
gaixotasun kromosomiko
@eu
kromosoma malsano
@eo
kromosomsjukdom
@nn
kromosomsykdom
@nb
maladie chromosomique
@fr
malaltia cromosòmica
@ca
Хромосомные болезни
@ru
քրոմոսոմային հիվանդություն
@hy
P486
P1995
P279
P2892
P2924
P31
P486
P672
C16.131.260
C16.320.180
P699
DOID:0080014