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bn:03519679n
Noun Concept
Categories: Peroxisomal disorders, Genodermatoses
EN
rhizomelic chondrodysplasia punctata  Acyl-CoA dihydroxyacetonephosphate acyltransferase deficiency  AGPS deficiency  Alkyldihydroxyacetonephosphate synthase deficiency  Alkylglycerone-phosphate synthase deficiency
EN
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs, seizures, recurrent respiratory tract infections and congenital cataracts. Wikipedia
Definitions
Relations
Sources
EN
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs, seizures, recurrent respiratory tract infections and congenital cataracts. Wikipedia
Human disease Wikidata
IS A
rhizomelia
chondrodysplasia punctata
autosomal recessive disease
HAS KIND
rhizomelic chondrodysplasia punctata type 1
HEALTH SPECIALTY
medical genetics
Wikipedia
EN
rhizomelic chondrodysplasia punctata
Wikidata
EN
rhizomelic chondrodysplasia punctata
Wikipedia Redirections
EN
Acyl-CoA dihydroxyacetonephosphate acyltransferase deficiency, AGPS deficiency, Alkyldihydroxyacetonephosphate synthase deficiency, Alkylglycerone-phosphate synthase deficiency, Autosomal recessive chondrodysplasia punctata type 1, Chondrodysplasia punctata, rhizomelic, Chondrodysplasia punctata rhizomelic form, Chondrodystrophia calcificans punctata, DHAPAT deficiency, Dihydroxyacetonephosphate acyltransferase deficiency, Glyceronephosphate o-acyltransferase deficiency, GNPAT deficiency, Peroxisomal biogenesis disorder complementation group 11, Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency, Rhizomelic Chondrodysplasia Punctata, Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 3
Wikidata Alias
EN
Chondrodysplasia Punctata, Rhizomelic Form

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