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Disease Ontology Browser
Floating-Harbor syndrome (DOID:0111358)
Alliance: disease page
Synonyms: FLHS
Alt IDs: OMIM:136140, MESH:C537062, NCI:C175241, ORDO:2044, UMLS_CUI:C0729582
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory