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rare genetic developmental defect during embryogenesis
?
TBD
human disease
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Subclasses
18
Tetralogy of Fallot
Type of congenital heart defect
Congenital heart defect
Defect in the structure of the heart that is present at birth
Lissencephaly
Birth defect in which the brain lacks surface folds
Gastroschisis
Defect resulting in visible intestines
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
human disease
Merkel-cell carcinoma
Rare and highly aggressive skin cancer
genetic vascular anomaly
instance of vascular anomaly that is caused by a modification of the individual's genome
Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
Rare X-linked dominant genetic disorder
syndromic renal or urinary tract malformation
renal or urinary tract malformation that is part of a larger syndrome
Mitochondrial DNA depletion syndrome
Medical condition
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Instance of
class of disease
Subclass of
rare genetic disease
Wikidata