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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621123 http://purl.bioontology.org/ontology/OMIM/621123
Preferred Name	ACHALASIA-PROGEROID SYNDROME
Synonyms	ACHPS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ACHPS
prefLabel	ACHALASIA-PROGEROID SYNDROME
Gene Symbol	BUD13 ACHPS
Scope Statement	Caused by mutation in the BUD13 homolog gene (BUD13, 620691.0001) [MOLECULAR BASIS] Onset in second year of life to late childhood [MISCELLANEOUS] Premature death in childhood (in some patients) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU079665 http://purl.bioontology.org/ontology/OMIM/MTHU001998 http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU037286 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU009220 http://purl.bioontology.org/ontology/OMIM/MTHU014378 http://purl.bioontology.org/ontology/OMIM/MTHU001419 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU007333 http://purl.bioontology.org/ontology/OMIM/MTHU079668 http://purl.bioontology.org/ontology/OMIM/MTHU079666 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU063764 http://purl.bioontology.org/ontology/OMIM/MTHU079664 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU079670 http://purl.bioontology.org/ontology/OMIM/MTHU060390 http://purl.bioontology.org/ontology/OMIM/MTHU079667 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU011786 http://purl.bioontology.org/ontology/OMIM/MTHU079669 See more See less
tui	T047
Gene Locus	11q23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621123
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C6012702
OMIM Entry Type	3
OMIM MimType Value	pound

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