Floating-Harbor Syndrome

Preferred Label : Floating-Harbor Syndrome;

NCIt synonyms : FLHS;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SRCAP gene, encoding helicase SRCAP. It is characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features.;

Details

Origin ID

C175241;

UMLS CUI

C0729582;

Currated CISMeF NLP mapping
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [OMIM Phenotype]
- Floating-harbor syndrome [MeSH concept]
- floating-harbor syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [OMIM Phenotype]
- Floating-harbor syndrome [MeSH concept]
- floating-harbor syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SRCAP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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