GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details   

RGDs registry under the 'Developmental / Multisystemic disorders'
S.No.  Genetic Disorders Aliases Sub-Category Gene symbol  Links Indian
context
1 Johanson-Blizzard syndrome UBR1 ubiquitin protein ligase E3 component n-recognin 1
PubMed Reports
2 Rhizomelic chondrodysplasia punctata AGPS alkylglycerone phosphate synthase
GNPAT glyceronephosphate O-acyltransferase
PEX7 peroxisomal biogenesis factor 7
PEX5 peroxisomal biogenesis factor 5
PubMed Reports
3 GAPO syndrome •Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
ANTXR1 ANTXR cell adhesion molecule 1
PubMed Reports