trisomy 13
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
MONDO:0700020
chromosome 13 disorder
is_a
MONDO:0700065
trisomy
is_a
D trisomy syndrome (formerly)
related
Patau syndrome
exact
Patau's syndrome
exact
Trisomy 13 Syndrome
exact
chromosome 13, trisomy 13 complete
related
trisomy 13
exact
trisomy type 13
exact