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Last uploaded:
January 16, 2025
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| 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
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| 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
|
| TH |
OMIM (2013)
GHR (2014)
ORD (2010)
|
| notation | C537620
|
| MMR | 20151110
|
| MeSH Frequency | 44
|
| Semantic type UMLS property | |
| HM |
D006130
D006228
D003456
D008607
D019066
|
| Inverse of RB | 0
|
| 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
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| MDA | 20100825
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| SC | 3
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| type | |
| Mapped to | |
| tui | T047
|
| SRC | J Med Genet. 2003; 40(7):546-51
|
| cui | C0796081
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| TERMUI |
T753639
T842094
T842093
T753640
T743190
|
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