Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621260 http://purl.bioontology.org/ontology/OMIM/621260
Preferred Name	SHORT-RIB THORACIC DYSPLASIA 22 WITHOUT POLYDACTYLY
Synonyms	SRTD22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SRTD22
prefLabel	SHORT-RIB THORACIC DYSPLASIA 22 WITHOUT POLYDACTYLY
Gene Symbol	HSTF1 SRTD22 FGF4
Scope Statement	Based on a report of 3 patients from 2 families (last curated July 2025) [MISCELLANEOUS] Caused by mutation in the fibroblast growth factor-4 gene (FGF4, 164980.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU063935 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU002592 http://purl.bioontology.org/ontology/OMIM/MTHU008079 http://purl.bioontology.org/ontology/OMIM/MTHU016184 http://purl.bioontology.org/ontology/OMIM/MTHU003208 http://purl.bioontology.org/ontology/OMIM/MTHU005316 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	11q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621260
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C6012747
OMIM Entry Type	3
OMIM MimType Value	pound

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