loading...| Preferred Name |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
|
| Synonyms |
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/309548 |
|
| altLabel |
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE FRAXE MENTAL RETARDATION SYNDROME XLID109 MRX109 MENTAL RETARDATION, X-LINKED 109 |
|
| cui |
C0751157 |
|
| Gene Locus |
Xq28 |
|
| Gene Symbol |
AFF2 FMR2 FRAXE XLID109 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU033008 http://purl.bioontology.org/ontology/OMIM/MTHU033009 http://purl.bioontology.org/ontology/OMIM/MTHU000246 http://purl.bioontology.org/ontology/OMIM/MTHU001852 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU000365 http://purl.bioontology.org/ontology/OMIM/MTHU033011 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU004285 http://purl.bioontology.org/ontology/OMIM/MTHU003269 http://purl.bioontology.org/ontology/OMIM/MTHU062934 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU064767 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
309540 |
|
| notation |
309548 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
|
| Scope Statement |
Occurs in 1 in 50,000 newborn males [MISCELLANEOUS] Caused by mutation in the AF4/FMR2 family, member 2 gene (AFF2, 300806.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/RCD/X78FD | RCD | CUI | |
| http://purl.bioontology.org/ontology/MSHFRE/D005600 | MSHFRE | CUI | |
| http://purl.bioontology.org/ontology/SCTSPA/254288000 | SCTSPA | CUI | |
| http://purl.bioontology.org/ontology/MESH/D005600 | MESH | CUI |