Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FUKUTIN-RELATED PROTEIN

Synonyms

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5

ID

http://purl.bioontology.org/ontology/OMIM/606596

altLabel

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5

FKRP

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5

cui

C3150413

C4016970

C1846672

C1425226

C4016971

Gene Locus

19q13.3

Gene Symbol

MDDGB5

FKRP

MDDGA5

MDDGC5

LGMD2I

MDC1C

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606596.0011

http://purl.bioontology.org/ontology/OMIM/606596.0010

http://purl.bioontology.org/ontology/OMIM/606596.0004

http://purl.bioontology.org/ontology/OMIM/606596.0009

http://purl.bioontology.org/ontology/OMIM/606596.0003

http://purl.bioontology.org/ontology/OMIM/606596.0005

http://purl.bioontology.org/ontology/OMIM/606596.0017

http://purl.bioontology.org/ontology/OMIM/606596.0018

http://purl.bioontology.org/ontology/OMIM/606596.0016

http://purl.bioontology.org/ontology/OMIM/606596.0001

http://purl.bioontology.org/ontology/OMIM/606596.0002

http://purl.bioontology.org/ontology/OMIM/606596.0013

http://purl.bioontology.org/ontology/OMIM/606596.0014

http://purl.bioontology.org/ontology/OMIM/606596.0012

http://purl.bioontology.org/ontology/OMIM/606596.0015

http://purl.bioontology.org/ontology/OMIM/606596.0006

http://purl.bioontology.org/ontology/OMIM/606596.0008

http://purl.bioontology.org/ontology/OMIM/606596.0007

http://purl.bioontology.org/ontology/OMIM/606596.0019

MIMTYPEMEANING

Gene with known sequence

notation

606596

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FUKUTIN-RELATED PROTEIN

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000007547 Protein Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP35860-3 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C564612 Medical Subject Headings CUI