Online Mendelian Inheritance in Man - FISCHER-ZIRNSAK PROGEROID SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621130 http://purl.bioontology.org/ontology/OMIM/621130
Preferred Name	FISCHER-ZIRNSAK PROGEROID SYNDROME
Synonyms	FZPS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FZPS
prefLabel	FISCHER-ZIRNSAK PROGEROID SYNDROME
Gene Symbol	SUPT7H KIAA0764 STAF65G SPT7l SUPT7L FZPS See more See less
Scope Statement	Based on report of 1 boy (last curated March 2025) [MISCELLANEOUS] Caused by mutation in the SPTY7-like, STAGA complex subunit gamma gene (SUPT7L, 612762.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002034 http://purl.bioontology.org/ontology/OMIM/MTHU079688 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU079683 http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU079685 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU003761 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU079681 http://purl.bioontology.org/ontology/OMIM/MTHU073043 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU079684 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU079687 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU036917 http://purl.bioontology.org/ontology/OMIM/MTHU059862 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU075360 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU079686 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU004625 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU040979 http://purl.bioontology.org/ontology/OMIM/MTHU010452 http://purl.bioontology.org/ontology/OMIM/MTHU079682 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU048536 http://purl.bioontology.org/ontology/OMIM/MTHU079689 http://purl.bioontology.org/ontology/OMIM/MTHU002670 See more See less
tui	T047
Gene Locus	2p25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621130
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C6012706
OMIM Entry Type	3
OMIM MimType Value	pound

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