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Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare developmental disorder affecting epiphysis in childhood.
Dysplasia epiphysealis hemimelica is a rare developmental disorder with unknown etiology affecting epiphysis in childhood.
Silver-Russell syndrome (SRS) is a rare developmental disorder, presenting with marked intrauterine and postnatal growth retardation.
Hydrocele of the canal of Nuck, also called the "female hydrocele," is a rare developmental disorder in females.
Segmental intestinal dilatation (SID) is a rare developmental anomaly of the midgut, characterized by sharply demarcated dilatation of a gastrointestinal segment with clinical findings of intestinal obstruction.
CCAM is also a rare developmental lung anomaly in adolescence and adulthood, but it is the most common congenital lung lesion in childhood examined by routine ultrasound.
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As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements recent developments in computer vision.
Fibrous dysplasia, rare congenital developmental disorder beginning in childhood and characterized by replacement of solid calcified bone with fibrous tissue, often only on one side of the body and primarily in the long bones and pelvis.
Gerton studies cohesinopathies, a group of rare human developmental disorders.
WS is a rare multisystemic developmental disorder caused by a hemizygous microdeletion on chromosome 7q11.23 (OMIM #194050) [4].
Rare genetic developmental disorders such as RASopathies are not a focus of drug development.
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