Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620192
http://purl.bioontology.org/ontology/OMIM/620192
Preferred Name

LACRIMOAURICULODENTODIGITAL SYNDROME 2
Synonyms
LADD SYNDROME 2
LADD2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LADD SYNDROME 2
LADD2
prefLabel
LACRIMOAURICULODENTODIGITAL SYNDROME 2
Gene Symbol
ACH
FGFR3
Scope Statement
Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0028) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU078444
http://purl.bioontology.org/ontology/OMIM/MTHU004921
http://purl.bioontology.org/ontology/OMIM/MTHU004627
http://purl.bioontology.org/ontology/OMIM/MTHU076896
http://purl.bioontology.org/ontology/OMIM/MTHU000506
http://purl.bioontology.org/ontology/OMIM/MTHU036374
http://purl.bioontology.org/ontology/OMIM/MTHU036695
http://purl.bioontology.org/ontology/OMIM/MTHU051759
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU036337
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU006022
http://purl.bioontology.org/ontology/OMIM/MTHU002523
http://purl.bioontology.org/ontology/OMIM/MTHU076900
http://purl.bioontology.org/ontology/OMIM/MTHU078443
http://purl.bioontology.org/ontology/OMIM/MTHU076898
http://purl.bioontology.org/ontology/OMIM/MTHU076897
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tui
T047
Gene Locus
4p16.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620192
Semantic type UMLS property
Has inheritance type
cui
C5774286
OMIM Entry Type
3
OMIM MimType Value
pound
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