loading...| Preferred Name | obsolete_X-linked intellectual disability with marfanoid habitus | |
| Synonyms |
Lujan-Fryns syndrome Lujan syndrome X-linked mental retardation with marfanoid habitus XLMR with marfanoid habitus |
|
| Definitions |
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_776 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:300676 UMLS:C0796022 ICD10:Q87.8 OMIM:309520 OMIM:300799 |
|
| definition |
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Lujan-Fryns syndrome Lujan syndrome X-linked mental retardation with marfanoid habitus XLMR with marfanoid habitus |
|
| label |
obsolete_X-linked intellectual disability with marfanoid habitus |
|
| obsoleted_in_version |
3.41.0 |
|
| preferred label |
obsolete_X-linked intellectual disability with marfanoid habitus |
|
| prefLabel |
obsolete_X-linked intellectual disability with marfanoid habitus |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_776 | CCONT | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_776 | ORDO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_776 | CCONT | LOOM |