Disease Index

9,486 diseases
XXXY syndrome
chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males
XXYY syndrome
chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome
XY gonadal dysgenesis
gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo
ICD: Q56.4MeSH: D006061
XY type gonadal dysgenesis-associated anomalies syndrome
human disease
MeSH: C565536
XYLT1-CDG
human disease
XYY syndrome
genetic condition in which a male has an extra Y chromosome
ICD: Q98.5MeSH: D014997
XYYY syndrome
chromosomal disorder
Y chromosome microdeletion
Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.
MeSH: C536297
Y chromosome number anomaly
human disease
ICD: Q98.9
yellow fever
viral disease
MeSH: D015004
yellow nail syndrome
Human disease
MeSH: D056684
Yemenite deaf-blind hypopigmentation syndrome
The Yemenite deaf-blind hypopigmentation syndrome, also called Warburg-Thomsen syndrome, is an extremely rare genetic disorder characterized by skin pigmentation abnormalities, eye disorders, and hearing loss.
MeSH: C536771
young adult-onset distal hereditary motor neuropathy
human disease
young-onset Parkinson disease
human disease
Young-Simpson syndrome
Human disease
MeSH: C536717
Young–Madders syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)
MeSH: C535829
Young's syndrome
Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections
MeSH: C536718
Yunis-Varon syndrome
Human disease
MeSH: C536719
Zadik–Barak–Levin syndrome
medical condition
MeSH: C536721
ZAP70 deficiency
medical condition
MeSH: C537590
zebra body myopathy
disease
Zechi-Ceide Syndrome
rare disease
MeSH: C567865
Zellweger spectrum disorder
group of rare autosomal recessive genetic disorders
MeSH: C536664
Zellweger syndrome
congenital disorder of nervous system
MeSH: D015211
Zellweger-like syndrome without peroxisomal anomalies
Zika fever
infectious arboviral disease
ICD: U06
Zimmermann-Laband syndrome 1
human disease
Zimmermann–Laband syndrome
rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet
ICD: Q87.8MeSH: C536725
zinc-responsive necrolytic acral erythema
human disease
Zollinger–Ellison syndrome
disease of the digestive tract in which tumors lead to excess acid and peptic ulcers
MeSH: D015043
Page 316 of 317 (9,486 total)