| 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://www.ncbi.nlm.nih.gov/pubmed/7588969, https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/22265015 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205810007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
FLHS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |