Down syndrome
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
excluded_subClassOf
MONDO:0003847
hereditary disease
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015506
obsolete rare syndrome with cardiac malformations (obsolete MONDO:0015506)
excluded_subClassOf
MONDO:0015652
obsolete chromosomal anomaly with epilepsy as a major feature (obsolete MONDO:0015652)
excluded_subClassOf
MONDO:0018792
obsolete Moyamoya syndrome (obsolete MONDO:0018792)
excluded_subClassOf
MONDO:0700124
chromosome 21 disorder
is_a
Down syndrome
exact
Down syndrome, Isolated cases
exact
Down's syndrome
exact
complete trisomy 21 syndrome
narrow
leukemia, megakaryoblastic, with or without Down syndrome, somatic
exact
trisomy 21
narrow
trisomy 21 (Down syndrome)
exact
trisomy 21 syndrome
narrow