Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly (SRTD11)

Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly(来自ICD-11)
别称:
Srtd11
Dysplasia, Thoracic, Short-Rib, Type 11 with/without Polydactyly
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References Literature
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly, also known as srtd11, is related to macular degeneration, atrophic, x-linked and orofaciodigital syndrome iv. An important gene associated with Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly is DYNC2I2 (Dynein 2 Intermediate Chain 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include pancreas and liver, and related phenotypes are delayed speech and language development and cryptorchidism
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MALACARDS
AR
Unknown
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9
48
9

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