loading...| Preferred Name |
Laurence-Moon syndrome |
|
| Synonyms |
LNMS |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1930 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:245800 MEDDRA:10056710 MESH:D007849 UMLS_CUI:C0023138 SNOMEDCT_US_2023_03_01:232059000 GARD:12635 NCI:C34760 ORDO:2377 |
|
| definition |
A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. |
|
| has exact synonym |
LNMS |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| has_related_synonym |
Laurence-Moon-Biedl syndrome |
|
| id |
DOID:1930 |
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| in_subset | ||
| label |
Laurence-Moon syndrome |
|
| notation |
DOID:1930 |
|
| prefLabel |
Laurence-Moon syndrome |
|
| subClassOf |