Terminology Service for NFDI4Health

Laurence-Moon syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_1930


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Laurence-Moon syndrome

Synonyms
  • LNMS
  • Laurence-Moon-Biedl syndrome
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:1930