Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/241850 http://purl.bioontology.org/ontology/OMIM/241850
Preferred Name	BAMFORTH-LAZARUS SYNDROME
Synonyms	BAMFORTH SYNDROME BAMLAZ HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BAMFORTH SYNDROME BAMLAZ HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
prefLabel	BAMFORTH-LAZARUS SYNDROME
Gene Symbol	TITF2 FOXE1 TTF2 BAMLAZ FKHL15 NMTC4 See more See less
Scope Statement	Caused by mutation in the forkhead box E1 gene (FOXE1, 602617.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079443 http://purl.bioontology.org/ontology/OMIM/MTHU079442 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU045114 http://purl.bioontology.org/ontology/OMIM/MTHU078454 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU079445 http://purl.bioontology.org/ontology/OMIM/MTHU025332 http://purl.bioontology.org/ontology/OMIM/MTHU036653 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU079444 http://purl.bioontology.org/ontology/OMIM/MTHU079446 http://purl.bioontology.org/ontology/OMIM/MTHU001720 See more See less
tui	T047
Gene Locus	9q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	241850
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1855794
OMIM Entry Type	3
OMIM MimType Value	pound

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