ZFIN Human Disease: 3-M syndrome

OBO ID: DOID:0060241

Term Name:	3-M syndrome		Search Ontology:
Synonyms:	dolichospondylic dysplasia gloomy face syndrome Le Merrer syndrome Miller-McKusick-Malvaux syndrome three M syndrome Yakut short stature syndrome
Definition:	A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (2)
References:	GARD:5667 MESH:C535314 OMIM:273750 OMIM:612921 OMIM:614205 ORDO:2616 SNOMEDCT_US_2023_03_01:702342007 UMLS_CUI:C1848862 UMLS_CUI:C3280146
Ontology:	Human Disease ( DOID:0060241 )

Relationships

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

OTHER 3-M syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
OBSL1	obsl1b obsl1a	3-M syndrome 2	612921
CCDC8		3-M syndrome 3
CUL7		3-M syndrome 1

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None