Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
Synonyms	CATSHLS
ID	http://purl.bioontology.org/ontology/OMIM/610474
altLabel	CATSHLS CATSHL SYNDROME
cui	C1864852
Gene Locus	4p16.3
Gene Symbol	FGFR3 ACH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000192 http://purl.bioontology.org/ontology/OMIM/MTHU030014 http://purl.bioontology.org/ontology/OMIM/MTHU037735 http://purl.bioontology.org/ontology/OMIM/MTHU000188 http://purl.bioontology.org/ontology/OMIM/MTHU000186 http://purl.bioontology.org/ontology/OMIM/MTHU038092 http://purl.bioontology.org/ontology/OMIM/MTHU046250 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU000194 http://purl.bioontology.org/ontology/OMIM/MTHU046251 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU020645 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU000187 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU000195
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610474
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537975	Medical Subject Headings	CUI