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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/22265015 http://purl.obolibrary.org/obo/ECO_0007645 url:https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome http://purl.obolibrary.org/obo/ECO_0007637 url:https://www.ncbi.nlm.nih.gov/pubmed/7588969 ]

Synonyms: FLHS

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:136140
  • SNOMEDCT_US_2020_09_01:205810007
  • ORDO:2044
  • MESH:C537062
  • UMLS_CUI:C0729582
  • GARD:6455
has obo namespace

disease_ontology

id

DOID:0111358