loading...| Preferred Name |
Laurence-Moon syndrome |
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| Synonyms |
LNMS |
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| 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 PNPLA6 on chromosome 19p13.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1930 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
OMIM:245800 MEDDRA:10056710 MESH:D007849 UMLS_CUI:C0023138 SNOMEDCT_US_2020_03_01:232059000 GARD:12635 NCI:C34760 ORDO:2377 |
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| has exact synonym |
LNMS |
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| has_obo_namespace |
disease_ontology |
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| has_related_synonym |
Laurence-Moon-Biedl syndrome |
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| id |
DOID:1930 |
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| imported from | ||
| in_subset | ||
| label |
Laurence-Moon syndrome |
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| notation |
DOID:1930 |
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| prefLabel |
Laurence-Moon syndrome |
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| textual 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 PNPLA6 on chromosome 19p13.2. |
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| subClassOf |
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