Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/301022
http://purl.bioontology.org/ontology/OMIM/301022
Preferred Name

MULLEGAMA-KLEIN-MARTINEZ SYNDROME
Synonyms
MKMS
NEDXCF
NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MKMS
NEDXCF
NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES
prefLabel
MULLEGAMA-KLEIN-MARTINEZ SYNDROME
Gene Symbol
SA2
STAG2
HPE13
MKMS
Scope Statement
Variable phenotype [MISCELLANEOUS]
Manifestations may differ between female and male patients [MISCELLANEOUS]
Caused by mutation in the stromal antigen 2 gene (STAG2, 300826.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012111
http://purl.bioontology.org/ontology/OMIM/MTHU032182
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU052468
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU003188
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU031256
http://purl.bioontology.org/ontology/OMIM/MTHU068110
http://purl.bioontology.org/ontology/OMIM/MTHU033288
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU050641
http://purl.bioontology.org/ontology/OMIM/MTHU013516
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000553
http://purl.bioontology.org/ontology/OMIM/MTHU012400
http://purl.bioontology.org/ontology/OMIM/MTHU002029
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU002392
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU068109
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU017644
http://purl.bioontology.org/ontology/OMIM/MTHU002478
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU001450
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU000090
http://purl.bioontology.org/ontology/OMIM/MTHU018821
http://purl.bioontology.org/ontology/OMIM/MTHU001780
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU013781
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU004142
http://purl.bioontology.org/ontology/OMIM/MTHU005783
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU004003
http://purl.bioontology.org/ontology/OMIM/MTHU007674
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU063532
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU001436
http://purl.bioontology.org/ontology/OMIM/MTHU063535
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tui
T047
Gene Locus
Xq25
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
301022
Semantic type UMLS property
Has inheritance type
cui
C5193008
OMIM Entry Type
3
OMIM MimType Value
pound
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