|  Help  |  About  |  Contact Us

DO Term : GRACILE syndrome [DOID:0111455] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:703388005,
  • MESH:C537934,
  • 603358,
  • GARD:1,
  • ORDO:53693,
  • OMIM:603358,
  • growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome,
  • Finnish lethal neonatal metabolic syndrome,
  • Fellman disease,
  • UMLS_CUI:C1864002,
  • growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome,
  • Finnish lactic acidosis with hepatic hemosiderosis,
  • FLNMS,
  • growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Paste the following link
Quick Links:
SummaryDiseaseOntology
 
Quick Links:
SummaryDiseaseOntology
 
Lists
This DOTerm isn't in any lists. Upload a list.

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom