Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/143860 http://purl.bioontology.org/ontology/OMIM/143860
Preferred Name	HYPERCHLORHIDROSIS, ISOLATED
Synonyms	HYCHL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HYCHL
prefLabel	HYPERCHLORHIDROSIS, ISOLATED
Gene Symbol	CA12
Scope Statement	Normal growth and development after 1 year of age [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Favorable response to sodium chloride treatment [MISCELLANEOUS] Caused by mutation in the carbonic anhydrase XII gene (CA12, 603263.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036843 http://purl.bioontology.org/ontology/OMIM/MTHU061292 http://purl.bioontology.org/ontology/OMIM/MTHU025155 http://purl.bioontology.org/ontology/OMIM/MTHU036851 http://purl.bioontology.org/ontology/OMIM/MTHU067198 http://purl.bioontology.org/ontology/OMIM/MTHU025905 http://purl.bioontology.org/ontology/OMIM/MTHU036844 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036845 See more See less
tui	T047
Gene Locus	15q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	143860
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1840437
OMIM Entry Type	3
OMIM MimType Value	pound

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