loading...| Preferred Name |
Laurence-Moon syndrome |
| Synonyms |
LNMS |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1930 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:245800 NCI:C34760 SNOMEDCT_US_2022_09_01:232059000 ORDO:2377 MEDDRA:10056710 MESH:D007849 GARD:12635 UMLS_CUI:C0023138 |
| 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 |
| in_subset | |
| label |
Laurence-Moon syndrome |
| notation |
DOID:1930 |
| prefLabel |
Laurence-Moon syndrome |
| subClassOf |