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Searched for "Chondrodysplasia Punctata".

20 results found on Genetics Home Reference.

  • rhizomelic chondrodysplasia punctata condition summary
    Found in name or synonym: chondrodysplasia punctata, rhizomelic
    Related genes:
  • X-linked chondrodysplasia punctata 2 condition summary
    Found in name or synonym: chondrodysplasia punctata 2, X-linked
    Related genes:
  • X-linked chondrodysplasia punctata 1 condition summary
    Found in name or synonym: chondrodysplasia punctata 1, X-linked
    Related genes:
  • EBP gene summary
    Official name: emopamil binding protein (sterol isomerase)
    Found: ...been found to cause X-linked chondrodysplasia punctata 2, a condition that occurs almost...
  • ARSE gene summary
    Official name: arylsulfatase E (chondrodysplasia punctata 1)
    Found: ...are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage...
  • PEX7 gene summary
    Official name: peroxisomal biogenesis factor 7
    Found: ...been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations...
  • Melnick-Needles syndrome condition summary
    Related classification: Chondrodysplasia Punctata
    Related genes:
  • GNPAT gene summary
    Official name: glyceronephosphate O-acyltransferase
    Found: ...been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations...
  • AGPS gene summary
    Official name: alkylglycerone phosphate synthase
    Found: ...been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations...
  • Zellweger spectrum condition summary
    Found: ...bone spots known as chondrodysplasia punctata that can be seen with an x-ray....
    Related genes:
  • PEX26 gene information
    Official name: peroxisomal biogenesis factor 26
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX14 gene information
    Official name: peroxisomal biogenesis factor 14
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX12 gene information
    Official name: peroxisomal biogenesis factor 12
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX10 gene information
    Official name: peroxisomal biogenesis factor 10
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX13 gene information
    Official name: peroxisomal biogenesis factor 13
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX16 gene information
    Official name: peroxisomal biogenesis factor 16
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX2 gene information
    Official name: peroxisomal biogenesis factor 2
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX19 gene information
    Official name: peroxisomal biogenesis factor 19
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX3 gene information
    Official name: peroxisomal biogenesis factor 3
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
  • PEX6 gene information
    Official name: peroxisomal biogenesis factor 6
    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
 
Published: December 16, 2014