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Metadata
ID	DOID:0111358
Name	Floating-Harbor syndrome
Definition	A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/22265015, https://www.ncbi.nlm.nih.gov/pubmed/7588969
Xrefs	GARD:6455 MESH:C537062 NCI:C175241 OMIM:136140 ORDO:2044 SNOMEDCT_US_2023_03_01:205810007 UMLS_CUI:C0729582
Subsets	DO_rare_slim NCIthesaurus
Synonyms	FLHS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal dominant disease