Diseases
Explore disease pages that summarize symptoms, diagnostic context, and related care topics.
All diseases (73,990)
Q9359
Other deletions of part of a chromosome
Q937
Deletions with other complex rearrangements
Q9381
Velo-cardio-facial syndrome
Q9382
Williams syndrome
Q9388
Other microdeletions
Q9389
Other deletions from the autosomes
Q939
Deletion from autosomes, unspecified
Q950
Balanced translocation and insertion in normal individual
Q951
Chromosome inversion in normal individual
Q952
Balanced autosomal rearrangement in abnormal individual
Q953
Balanced sex/autosomal rearrangement in abnormal individual
Q955
Individual with autosomal fragile site
Q958
Other balanced rearrangements and structural markers
Q959
Balanced rearrangement and structural marker, unspecified
Q960
Karyotype 45, X
Q961
Karyotype 46, X iso (Xq)
Q962
Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
Q963
Mosaicism, 45, X/46, XX or XY
Q964
Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
Q968
Other variants of Turner's syndrome
Q969
Turner's syndrome, unspecified
Q970
Karyotype 47, XXX
Q971
Female with more than three X chromosomes
Q972
Mosaicism, lines with various numbers of X chromosomes
Q973
Female with 46, XY karyotype
Q978
Other specified sex chromosome abnormalities, female phenotype
Q979
Sex chromosome abnormality, female phenotype, unspecified
Q980
Klinefelter syndrome karyotype 47, XXY
Q981
Klinefelter syndrome, male with more than two X chromosomes
Q983
Other male with 46, XX karyotype
Q984
Klinefelter syndrome, unspecified
Q985
Karyotype 47, XYY
Q986
Male with structurally abnormal sex chromosome
Q987
Male with sex chromosome mosaicism
Q988
Other specified sex chromosome abnormalities, male phenotype
Q989
Sex chromosome abnormality, male phenotype, unspecified
Q990
Chimera 46, XX/46, XY
Q991
46, XX true hermaphrodite
Q992
Fragile X chromosome
Q99811
Usher syndrome, type 1
Q99812
Usher syndrome, type 2
Q99813
Usher syndrome, type 3
Q99818
Other Usher syndrome
Q99819
Usher syndrome, unspecified
Q9989
Other specified chromosome abnormalities
Q999
Chromosomal abnormality, unspecified
QA00101
SCN2A-related neurodevelopmental disorder
QA00102
CACNA1A-related neurodevelopmental disorder
QA00109
Neurodevelopmental disorder related to pathogenic variant in other ion channel gene
QA0011
Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes
QA0012
Neurodevelopmental disorders, related to pathogenic variants in other receptor genes
QA00131
SLC6A1-related disorder
QA00139
Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene
QA00141
Syntaxin-binding protein 1-related disorder
QA00142
DLG4-related synaptopathy
QA00149
Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene
QA00151
FOXG1 syndrome
QA00159
Neurodevelopmental disorder, related to other genes associated with transcription and gene expression
QA08
Other neurodevelopmental disorders related to pathogenic variants in other specific genes
R000
Tachycardia, unspecified
R001
Bradycardia, unspecified
R002
Palpitations
R008
Other abnormalities of heart beat
R009
Unspecified abnormalities of heart beat
R010
Benign and innocent cardiac murmurs
R011
Cardiac murmur, unspecified
R012
Other cardiac sounds
R030
Elevated blood-pressure reading, without diagnosis of hypertension
R031
Nonspecific low blood-pressure reading
R040
Epistaxis
R041
Hemorrhage from throat
R042
Hemoptysis
R0481
Acute idiopathic pulmonary hemorrhage in infants
R0489
Hemorrhage from other sites in respiratory passages
R049
Hemorrhage from respiratory passages, unspecified
R051
Acute cough
R052
Subacute cough
R053
Chronic cough
R054
Cough syncope
R058
Other specified cough
R059
Cough, unspecified
R0600
Dyspnea, unspecified
R0601
Orthopnea
R0602
Shortness of breath
R0603
Acute respiratory distress
R0609
Other forms of dyspnea
R061
Stridor
R062
Wheezing
R063
Periodic breathing
R064
Hyperventilation
R065
Mouth breathing
R066
Hiccough
R067
Sneezing
R0681
Apnea, not elsewhere classified
R0682
Tachypnea, not elsewhere classified
R0683
Snoring
R0689
Other abnormalities of breathing
R069
Unspecified abnormalities of breathing
R070
Pain in throat
R071
Chest pain on breathing