loading...| Preferred Name | fragile X syndrome | |
| Synonyms |
primary ovarian insufficiency, fragile X-associated X-linked mental retardation and macroorchidism fragile 10 premature ovarian failure X-linked intellectual disability and macroorchidism fra(X) syndrome mental retardation, X-linked, associated with Marxq28 marker 10 syndrome intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome fragile 10 mental retardation syndrome fragile 10 intellectual disability syndrome fragile X mental retardation syndrome fragile X intellectual disability syndrome marker X syndrome Fragile X syndrome, X-linked dominant Martin-Bell syndrome FRAXA syndrome fragile X syndrome FraX syndrome FXS |
|
| Definitions |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010383 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010383 |
|
| database_cross_reference |
OMIM:300624 ICD9:759.83 MEDGEN:8912 icd11.foundation:1524287677 SCTID:613003 NCIT:C84717 MESH:D005600 NANDO:1200692 Orphanet:908 UMLS:C0016667 NANDO:2100224 MedDRA:10017324 NANDO:2200840 DOID:14261 GARD:6464 NORD:1159 |
|
| definition |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84717 http://purl.obolibrary.org/obo/Orphanet_908 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1524287677 http://identifiers.org/mesh/D005600 http://identifiers.org/medgen/8912 http://identifiers.org/snomedct/613003 |
|
| has_exact_synonym |
fragile X mental retardation syndrome fragile X intellectual disability syndrome marker X syndrome Fragile X syndrome, X-linked dominant Martin-Bell syndrome FRAXA syndrome fragile X syndrome FraX syndrome FXS |
|
| has_related_synonym |
primary ovarian insufficiency, fragile X-associated X-linked mental retardation and macroorchidism fragile 10 premature ovarian failure X-linked intellectual disability and macroorchidism fra(X) syndrome mental retardation, X-linked, associated with Marxq28 marker 10 syndrome intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome fragile 10 mental retardation syndrome fragile 10 intellectual disability syndrome |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/4883 https://github.com/monarch-initiative/mondo/issues/1766 https://github.com/monarch-initiative/mondo/issues/5588 |
|
| id |
MONDO:0010383 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
fragile X syndrome |
|
| notation |
MONDO:0010383 |
|
| preferred label |
fragile X syndrome |
|
| prefLabel |
fragile X syndrome |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0017656 http://purl.obolibrary.org/obo/MONDO_0005027 http://purl.obolibrary.org/obo/MONDO_0015368 |