Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
Synonyms

LSDMCA3
ID

http://purl.bioontology.org/ontology/OMIM/300952
altLabel

LSDMCA3

LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES
cui

C4225421
Gene Locus

Xp11.3
Gene Symbol

NDUFB11

LSDMCA3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU049280

http://purl.bioontology.org/ontology/OMIM/MTHU049284

http://purl.bioontology.org/ontology/OMIM/MTHU049282

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU001955

http://purl.bioontology.org/ontology/OMIM/MTHU049278

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU049273

http://purl.bioontology.org/ontology/OMIM/MTHU049276

http://purl.bioontology.org/ontology/OMIM/MTHU016244

http://purl.bioontology.org/ontology/OMIM/MTHU049274

http://purl.bioontology.org/ontology/OMIM/MTHU005089

http://purl.bioontology.org/ontology/OMIM/MTHU049283

http://purl.bioontology.org/ontology/OMIM/MTHU012138

http://purl.bioontology.org/ontology/OMIM/MTHU049281

http://purl.bioontology.org/ontology/OMIM/MTHU049286

http://purl.bioontology.org/ontology/OMIM/MTHU005011

http://purl.bioontology.org/ontology/OMIM/MTHU037226

http://purl.bioontology.org/ontology/OMIM/MTHU012710

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU049275

http://purl.bioontology.org/ontology/OMIM/MTHU049279

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU049277

http://purl.bioontology.org/ontology/OMIM/MTHU019869

http://purl.bioontology.org/ontology/OMIM/MTHU049285
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

300952
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111876 Human Disease Ontology 123 LOOM