Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602249 http://purl.bioontology.org/ontology/OMIM/602249
Preferred Name	PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU005528 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU000580 http://purl.bioontology.org/ontology/OMIM/MTHU005527 http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU036361 http://purl.bioontology.org/ontology/OMIM/MTHU005526 http://purl.bioontology.org/ontology/OMIM/MTHU002016 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000577 http://purl.bioontology.org/ontology/OMIM/MTHU002115 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU000264 http://purl.bioontology.org/ontology/OMIM/MTHU036334 http://purl.bioontology.org/ontology/OMIM/MTHU005529 http://purl.bioontology.org/ontology/OMIM/MTHU004645 See more See less
tui	T047
MIMTYPEMEANING	Other, mainly phenotypes with suspected mendelian basis
notation	602249
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1865699
OMIM Entry Type	0
OMIM MimType Value	none

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