Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

Synonyms

KAESER SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/181400

altLabel

KAESER SYNDROME

STARK-KAESER SYNDROME

SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER

SCPNK

cui

C1867005

Gene Locus

2q35

Gene Symbol

ARVC7

MFM1

LGMD2R

ARVD7

DES

CMD1I

SCPNK

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

181400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

tui

T047

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http://purl.bioontology.org/ontology/MESH/C566695 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566695 Medical Subject Headings LOOM