Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库

Last uploaded: September 7, 2023

Preferred Name	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Synonyms	CAN
ID	http://purl.bioontology.org/ontology/OMIM/612247
altLabel	CAN CROUZONODERMOSKELETAL SYNDROME
cui	C2677099
Gene Locus	4p16.3
Gene Symbol	FGFR3 ACH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050378 http://purl.bioontology.org/ontology/OMIM/MTHU001173 http://purl.bioontology.org/ontology/OMIM/MTHU050376 http://purl.bioontology.org/ontology/OMIM/MTHU050380 http://purl.bioontology.org/ontology/OMIM/MTHU050374 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU036653 http://purl.bioontology.org/ontology/OMIM/MTHU050379 http://purl.bioontology.org/ontology/OMIM/MTHU050377 http://purl.bioontology.org/ontology/OMIM/MTHU050375 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU001136 http://purl.bioontology.org/ontology/OMIM/MTHU050381 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU016093
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612247
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Scope Statement	Onset of acanthosis nigricans in childhood or by puberty [MISCELLANEOUS] Caused by mutation (A391E) in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0011) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567382	Medical Subject Headings / 医学主题词表	CUI
	http://purl.bioontology.org/ontology/MESH/C567382	Medical Subject Headings / 医学主题词表	LOOM