Myhre Syndrome

Preferred Label : Myhre Syndrome;

NCIt definition : A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip).;

Details

Origin ID

C123815;

UMLS CUI

C0796081;

Currated CISMeF NLP mapping
- Growth mental deficiency syndrome of Myhre [MeSH concept]
- Myhre syndrome [OMIM Phenotype]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome (disorder) [SNOMED CT concept]
- growth mental deficiency syndrome of myhre [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth mental deficiency syndrome of Myhre [MeSH concept]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome [OMIM Phenotype]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome (disorder) [SNOMED CT concept]
- growth mental deficiency syndrome of myhre [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
- SMAD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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