Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/190605 http://purl.bioontology.org/ontology/OMIM/190605
Preferred Name	TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY
Synonyms	TPTPS TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME TPT-PS SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TPTPS TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME TPT-PS SYNDROME
prefLabel	TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY
Gene Symbol	TPTPS LSS LMBR1 ACHP C7orf2
Scope Statement	Caused by duplication involving both the limb development membrane protein 1 gene and ZPA regulatory sequence (620738) in intron 5 of LMBR1 (LMBR1, 605522.0006) [MOLECULAR BASIS] Feet are unaffected or less severely affected than hands [MISCELLANEOUS] Syndactyly mainly involves fingers 3-4-5 [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU051759 http://purl.bioontology.org/ontology/OMIM/MTHU076542 http://purl.bioontology.org/ontology/OMIM/MTHU006883 http://purl.bioontology.org/ontology/OMIM/MTHU076543 http://purl.bioontology.org/ontology/OMIM/MTHU017293 http://purl.bioontology.org/ontology/OMIM/MTHU076541 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU040959 http://purl.bioontology.org/ontology/OMIM/MTHU002221 See more See less
tui	T047
Gene Locus	7q36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	190605
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5779878
OMIM Entry Type	3
OMIM MimType Value	pound

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