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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537620
http://purl.bioontology.org/ontology/MESH/C537620
|
|---|---|
| Preferred Name | Growth mental deficiency syndrome of Myhre |
| Synonyms |
Laps Syndrome
Growth-mental deficiency syndrome of Myhre
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature
Myhre syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Laps Syndrome
Growth-mental deficiency syndrome of Myhre
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature
Myhre syndrome
|
|---|---|
| prefLabel | Growth mental deficiency syndrome of Myhre
|
| Scope Statement | A rare hereditary autosomal dominant disorder characterized by intellectual disability and facial abnormalities that include MICROCEPHALY, midface hypoplasia, PROGNATHISM, and BLEPHAROPHIMOSIS. Skeletal anomalies include short stature, square body shape, broad ribs, iliac hypoplasia, BRACHYDACTYLY, flattened vertebrae, and thickened CALVARIA. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic. Mutations in the SMAD4 gene have been identified. OMIM: 139210
|
| type | |
| tui | T047
|
| HM |
D006130
D006228
D003456
D008607
D019066
|
| SC | 3
|
| TERMUI |
T753639
T842094
T842093
T753640
T743190
|
| TH |
OMIM (2013)
GHR (2014)
ORD (2010)
|
| SRC | J Med Genet. 2003; 40(7):546-51
|
| MMR | 20151110
|
| notation | C537620
|
| Semantic type UMLS property | |
| cui | C0796081
|
| MeSH Frequency | 44
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |