Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/621063
http://purl.bioontology.org/ontology/OMIM/621063
Preferred Name

MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME
Synonyms
MCCS
FRONTONASAL DYSPLASIA AND MYOPIA WITH OR WITHOUT CARDIAC MALFORMATION AND CLEFT LIP/PALATE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MCCS
FRONTONASAL DYSPLASIA AND MYOPIA WITH OR WITHOUT CARDIAC MALFORMATION AND CLEFT LIP/PALATE
prefLabel
MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME
Gene Symbol
MCCS
HYAL2
LUCA2
Scope Statement
Phenotypic variability [MISCELLANEOUS]
Caused by mutation in the hyaluronoglucosaminidase-2 gene (HYAL2, 603551.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU007696
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU079338
http://purl.bioontology.org/ontology/OMIM/MTHU000506
http://purl.bioontology.org/ontology/OMIM/MTHU013516
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU038933
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU079339
http://purl.bioontology.org/ontology/OMIM/MTHU065495
http://purl.bioontology.org/ontology/OMIM/MTHU036018
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU000507
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU036353
http://purl.bioontology.org/ontology/OMIM/MTHU001441
http://purl.bioontology.org/ontology/OMIM/MTHU079341
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU006883
http://purl.bioontology.org/ontology/OMIM/MTHU005938
http://purl.bioontology.org/ontology/OMIM/MTHU079342
http://purl.bioontology.org/ontology/OMIM/MTHU079340
http://purl.bioontology.org/ontology/OMIM/MTHU013906
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU079343
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU003214
http://purl.bioontology.org/ontology/OMIM/MTHU004003
http://purl.bioontology.org/ontology/OMIM/MTHU063470
http://purl.bioontology.org/ontology/OMIM/MTHU079344
http://purl.bioontology.org/ontology/OMIM/MTHU002676
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tui
T047
Gene Locus
3p21.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
621063
Semantic type UMLS property
Has inheritance type
cui
C5975586
OMIM Entry Type
3
OMIM MimType Value
pound
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