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Metadata
ID DOID:14261
Name fragile X syndrome
Definition A X-linked dominant disease 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.
http://en.wikipedia.org/wiki/Fragile_X_syndrome, http://omim.org/entry/300624, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908
Xrefs

GARD:6464

ICD10CM:Q99.2

ICD9CM:759.83

MESH:D005600

NCI:C84717

OMIM:300624

ORDO:908

SNOMEDCT_US_2018_03_01:613003

UMLS_CUI:C0016667

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

FRAGILE X MENTAL RETARDATION SYNDROME [EXACT]

MARKER X SYNDROME [EXACT]

MARTIN-BELL SYNDROME [EXACT]

Parent Relationships

is_a X-linked dominant disease

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