ZFIN Human Disease: geroderma osteodysplasticum

OBO ID: DOID:0111266

Term Name:	geroderma osteodysplasticum		Search Ontology:
Synonyms:	geroderma osteodysplastica gerodermia osteodysplastica GO Walt Disney dwarfism
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. (2)
References:	GARD:413 MESH:C537799 OMIM:231070 ORDO:2078 SNOMEDCT_US_2023_03_01:254116003 UMLS_CUI:C0432255
Ontology:	Human Disease ( DOID:0111266 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER geroderma osteodysplasticum PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GORAB	gorab	Geroderma osteodysplasticum	231070

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None