Chromosome Disorders

Go to external page http://purl.bioontology.org/ontology/MESH/D025063


Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Instance info

Synonyms

Chromosome Abnormality Disorders, Chromosome Disorder, Disorder, Chromosomal, Chromosomal Disorders, Chromosomal Disorder, Chromosomenstörungen (DE), Disorder, Chromosome Abnormality, Chromosome Abnormality Disorder, Disorder, Chromosome, Störungen durch Chromosomenanomalien (DE), Autosomenstörungen (DE), Disorders, Chromosome, Autosomal Chromosome Disorders, Autosomal Chromosome Disorder, Disorders, Chromosomal, Chromosome Disorder, Autosomal, Chromosome Disorders, Autosomal

AN

GEN or unspecified; prefer specifics; coord IM with specific numbered chromosome (IM)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20020101

FX

D005826,D003582

HN

2002; see CHROMOSOMAL ABNORMALITIES 1978-1995

MDA

20010725

MMR

20090706

MN

C16.131.260,C16.320.180

PM

2002

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D005826,http://purl.bioontology.org/ontology/MESH/D003582,http://purl.bioontology.org/ontology/MESH/D002869

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D014564,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D012868,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D065630,http://purl.bioontology.org/ontology/MESH/D015619,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009008,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D005124,http://purl.bioontology.org/ontology/MESH/D018376,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D004065,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D000015,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D000014,http://purl.bioontology.org/ontology/MESH/D056735,http://purl.bioontology.org/ontology/MESH/D050033,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D000016,http://purl.bioontology.org/ontology/MESH/D065817,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D009421,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D012857,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D044148,http://purl.bioontology.org/ontology/MESH/D018640,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D009139,http://purl.bioontology.org/ontology/MESH/D056684

TERMUI

T429526,T429524,T429525,T429687

TH

ORD (2010),NLM (2002)

cui

C0969687,C0008626

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C535449,http://purl.bioontology.org/ontology/MESH/C567717,http://purl.bioontology.org/ontology/MESH/C567439,http://purl.bioontology.org/ontology/MESH/C538087,http://purl.bioontology.org/ontology/MESH/C536580,http://purl.bioontology.org/ontology/MESH/C563482,http://purl.bioontology.org/ontology/MESH/C535296,http://purl.bioontology.org/ontology/MESH/C538288,http://purl.bioontology.org/ontology/MESH/C537639,http://purl.bioontology.org/ontology/MESH/C579850,http://purl.bioontology.org/ontology/MESH/C537635,http://purl.bioontology.org/ontology/MESH/C535733,http://purl.bioontology.org/ontology/MESH/C537636,http://purl.bioontology.org/ontology/MESH/C536987,http://purl.bioontology.org/ontology/MESH/C567705,http://purl.bioontology.org/ontology/MESH/C567626,http://purl.bioontology.org/ontology/MESH/C566980,http://purl.bioontology.org/ontology/MESH/C565370,http://purl.bioontology.org/ontology/MESH/C579849,http://purl.bioontology.org/ontology/MESH/C537763,http://purl.bioontology.org/ontology/MESH/C537641,http://purl.bioontology.org/ontology/MESH/C536796,http://purl.bioontology.org/ontology/MESH/C537643,http://purl.bioontology.org/ontology/MESH/C537804,http://purl.bioontology.org/ontology/MESH/C564508,http://purl.bioontology.org/ontology/MESH/C536519,http://purl.bioontology.org/ontology/MESH/C536798,http://purl.bioontology.org/ontology/MESH/C567810,http://purl.bioontology.org/ontology/MESH/C563382,http://purl.bioontology.org/ontology/MESH/C565001,http://purl.bioontology.org/ontology/MESH/C567585,http://purl.bioontology.org/ontology/MESH/C565160,http://purl.bioontology.org/ontology/MESH/C538105,http://purl.bioontology.org/ontology/MESH/C536682,http://purl.bioontology.org/ontology/MESH/C536803,http://purl.bioontology.org/ontology/MESH/C538309,http://purl.bioontology.org/ontology/MESH/C579873,http://purl.bioontology.org/ontology/MESH/C580205,http://purl.bioontology.org/ontology/MESH/C537810,http://purl.bioontology.org/ontology/MESH/C537813,http://purl.bioontology.org/ontology/MESH/C536801,http://purl.bioontology.org/ontology/MESH/C537818,http://purl.bioontology.org/ontology/MESH/C535918,http://purl.bioontology.org/ontology/MESH/C563051,http://purl.bioontology.org/ontology/MESH/C567173,http://purl.bioontology.org/ontology/MESH/C538356,http://purl.bioontology.org/ontology/MESH/C535486,http://purl.bioontology.org/ontology/MESH/C538036,http://purl.bioontology.org/ontology/MESH/C538355,http://purl.bioontology.org/ontology/MESH/C535362,http://purl.bioontology.org/ontology/MESH/C535484

tui

T019,T047

Instance relations

Types