loading...| Preferred Name | fragile X syndrome | |
| Synonyms |
primary ovarian insufficiency, fragile X-associated fra(X) syndrome X-linked mental retardation and macroorchidism intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome marker 10 syndrome fragile 10 intellectual disability syndrome X-linked intellectual disability and macroorchidism fragile 10 premature ovarian failure mental retardation, X-linked, associated with Marxq28 fragile 10 mental retardation syndrome Martin-Bell syndrome fragile X mental retardation syndrome fragile X syndrome FRAXA syndrome FraX syndrome fragile X intellectual disability syndrome marker X syndrome FXS Fragile X syndrome, X-linked dominant |
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| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010383 |
|
| database_cross_reference |
Orphanet:908 SCTID:613003 NCIT:C84717 MedDRA:10017324 NANDO:2100224 GARD:6464 MESH:D005600 NORD:1159 DOID:14261 icd11.foundation:1524287677 OMIM:300624 MEDGEN:8912 UMLS:C0016667 NANDO:1200692 NANDO:2200840 ICD9:759.83 |
|
| 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. |
|
| has_exact_synonym |
Martin-Bell syndrome fragile X mental retardation syndrome fragile X syndrome FRAXA syndrome FraX syndrome fragile X intellectual disability syndrome marker X syndrome FXS Fragile X syndrome, X-linked dominant |
|
| has_related_synonym |
primary ovarian insufficiency, fragile X-associated fra(X) syndrome X-linked mental retardation and macroorchidism intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome marker 10 syndrome fragile 10 intellectual disability syndrome X-linked intellectual disability and macroorchidism fragile 10 premature ovarian failure mental retardation, X-linked, associated with Marxq28 fragile 10 mental retardation 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-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
fragile X syndrome |
|
| notation |
MONDO:0010383 |
|
| prefLabel |
fragile X syndrome |
|
| skos_closeMatch | ||
| skos_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 |
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| treeView | ||
| 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 |
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| subClassOf |