ID   HPS3019
AC   CVCL_D0X9
DR   RCB; HPS3019
DR   Wikidata; Q123032481
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126746; Congenital disorder of deglycosylation
DI   ORDO; Orphanet_404454; Alacrimia-choreoathetosis-liver dysfunction syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0X8 ! HPS3018
OI   CVCL_D0XA ! HPS3020
OI   CVCL_D0XB ! HPS3021
OI   CVCL_D0XC ! HPS3022
OI   CVCL_D0XD ! HPS3023
SX   Female
AG   <10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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