ZFIN Human Disease: fragile X syndrome

OBO ID: DOID:14261

Term Name:	fragile X syndrome		Search Ontology:
Synonyms:	FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME
Definition:	A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (3)
References:	GARD:6464 ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 NCI:C84717 OMIM:300624 ORDO:908 SNOMEDCT_US_2023_03_01:390007001 UMLS_CUI:C0016667
Ontology:	Human Disease ( DOID:14261 )

Relationships

is a type of:	syndrome X-linked dominant disease syndrome X-linked dominant disease Show first 5 Terms

OTHER fragile X syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FMR1	fmr1	Fragile X syndrome	300624

ZEBRAFISH MODELS

Fish	Conditions	Citations
fmr1^{hu2787/hu2787}	standard conditions	(3)
fmr1^{hu2787/hu2787} (AB)	control	Kim et al., 2014
fmr1^sib7/sib7 (AB)	standard conditions	Hu et al., 2020

PHENOTYPE No data available

CITATIONS (8)