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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 SRCAP 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

OMIM:136140

ORDO:2044

SNOMEDCT_US_2020_09_01:205810007

UMLS_CUI:C0729582

Synonyms

FLHS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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