glycerol kinase deficiency, infantile form

Go to external page http://purl.obolibrary.org/obo/MONDO_0017294


Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. [ Orphanet:284408 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:284408 (MONDO:equivalentObsolete)
Subsets

gard_rare, rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018459

id

MONDO:0017294