| Metadata | |
|---|---|
| ID | DOID:0111266 |
| Name | geroderma osteodysplasticum |
| Definition | A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. https://www.ncbi.nlm.nih.gov/pubmed/18997784, https://www.ncbi.nlm.nih.gov/pubmed/26000619 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254116003 |
| Subsets |
DO_rare_slim |
| Synonyms |
geroderma osteodysplastica [EXACT] gerodermia osteodysplastica [EXACT] GO [EXACT] Walt Disney dwarfism [EXACT] |
| Parent Relationships |
is_a syndrome |