loading...| Preferred Name | Laurence-Moon syndrome | |
| Synonyms |
Laurence-Moon-Biedl syndrome Laurence-MOON syndrome LNMS Laurence-Moon syndrome LMS |
|
| Definitions |
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009514 |
|
| closeMatch | ||
| database_cross_reference |
OMIM:245800 MESH:D007849 icd11.foundation:458834940 MEDGEN:44078 NCIT:C34760 MedDRA:10056710 UMLS:C0023138 Orphanet:2377 SCTID:5619004 SCTID:232059000 DOID:1930 GARD:12635 ICD9:253.4 NORD:1932 |
|
| definition |
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. |
|
| exactMatch |
http://identifiers.org/mesh/D007849 http://purl.obolibrary.org/obo/DOID_1930 http://purl.obolibrary.org/obo/NCIT_C34760 http://identifiers.org/snomedct/232059000 http://identifiers.org/medgen/44078 http://purl.obolibrary.org/obo/Orphanet_2377 http://linkedlifedata.com/resource/umls/id/C0023138 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/458834940 |
|
| has_exact_synonym |
Laurence-Moon syndrome LMS |
|
| has_related_synonym |
Laurence-Moon-Biedl syndrome Laurence-MOON syndrome LNMS |
|
| IAO_0000233 | ||
| id |
MONDO:0009514 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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 |
Laurence-Moon syndrome |
|
| notation |
MONDO:0009514 |
|
| preferred label |
Laurence-Moon syndrome |
|
| prefLabel |
Laurence-Moon syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015770 |
|
| excluded_subClassOf |