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 | EFO | SAME_URI | |
http://www.orpha.net/ORDO/Orphanet_776 | ORDO | SAME_URI | |
http://www.orpha.net/ORDO/Orphanet_776 | EFO | LOOM |