growth mental deficiency syndrome of myhre

Preferred Label : growth mental deficiency syndrome of myhre;

MeSH note : Pre- and postnatal growth deficiency, unusual facies, generalized muscle hypertrophy, decreased joint mobility, cryptorchidism, cardiac anomaly, early onset puberty;

MeSH synonym : myhre syndrome; growth-mental deficiency syndrome of myhre; laryngotracheal stenosis, arthropathy, prognathism, and short stature; laps syndrome;

Details

Origin ID

C537620;

UMLS CUI

C0796081;

Currated CISMeF NLP mapping
- Myhre Syndrome [NCIt concept]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome [OMIM Phenotype]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent nasal root [HPO term]
MeSH term(s) associated for indexing
- cryptorchidism [MeSH Descriptor]
- facies [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hypertrophy [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- joint diseases [MeSH Descriptor]
Record concept(s)
- Growth mental deficiency syndrome of Myhre [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myhre Syndrome [NCIt concept]
- Myhre syndrome [OMIM Phenotype]
- Myhre syndrome [ORDO Disease]
- Myhre syndrome [Disease (Nov.)]
- Myhre syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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