ID   HPS2413
AC   CVCL_C9XT
DR   RCB; HPS2413
DR   Wikidata; Q123032164
CC   Sequence variation: Mutation; HGNC; HGNC:9143; PHOX2B; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2413).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98889; Congenital central hypoventilation
DI   ORDO; Orphanet_661; Ondine syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9XU ! HPS2414
OI   CVCL_C9XV ! HPS2415
OI   CVCL_C9XW ! HPS2416
OI   CVCL_C9XX ! HPS2417
OI   CVCL_C9XY ! HPS2418
SX   Female
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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