ZFIN Human Disease: hereditary neuropathy with liability to pressure palsies

OBO ID: DOID:0060843

Term Name:	hereditary neuropathy with liability to pressure palsies		Search Ontology:
Synonyms:	current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 HNPP potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy
Definition:	A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (3)
References:	MESH:C536965 OMIM:162500 ORDO:640 SNOMEDCT_US_2023_03_01:230558006 UMLS_CUI:C0393814
Ontology:	Human Disease ( DOID:0060843 )

Relationships

is a type of:	autosomal dominant disease neuropathy autosomal dominant disease neuropathy Show first 5 Terms

OTHER hereditary neuropathy with liability to pressure palsies PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PMP22	pmp22a pmp22b	Neuropathy, recurrent, with pressure palsies	162500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None