ID   HPS2033
AC   CVCL_C9VD
DR   RCB; HPS2033
DR   Wikidata; Q123032024
CC   Sequence variation: Mutation; HGNC; HGNC:438; ALPL; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2033).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9VA ! HPS2030
OI   CVCL_C9VB ! HPS2031
OI   CVCL_C9VC ! HPS2032
OI   CVCL_C9VE ! HPS2034
OI   CVCL_C9VF ! HPS2035
SX   Female
AG   1-5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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