Preferred Label : Geleophysic Dysplasia 1;
NCIt synonyms : GPHYSD1;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the ADAMTSL2 gene, encoding
ADAMTS-like protein 2. It is characterized by severe short stature, short hands and
feet, skin thickening, and variable cardiorespiratory abnormalities.;
Origin ID : C202607;
- Currated CISMeF NLP mapping
- concept_is_in_subset
- disease_has_finding