loading...| Preferred Name |
Telomeric 22q13 Monosomy Syndrome |
|
| Synonyms |
Deletion 22q13.3 Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536801 |
|
| altLabel |
Deletion 22q13.3 Syndrome Chromosome 22q13.3 Deletion Syndrome Phelan-McDermid Syndrome Monosomy 22q13 22q13 Deletion Syndrome 22q13.3 Deletion Syndrome Deletion 22q13 Syndrome |
|
| cui |
C1853490 |
|
| HM |
D002872 D025063 D002892 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002872 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
150 |
|
| MMR |
20160705 |
|
| notation |
C536801 |
|
| prefLabel |
Telomeric 22q13 Monosomy Syndrome |
|
| SC |
3 |
|
| Scope Statement |
A developmental disorder caused by heterozygous deletion of the portion of chromosome 22 that includes the SHANK3 gene, or by mutations in SHANK3. It is characterized by neonatal HYPOTONIA, normal to accelerated growth, LANGUAGE DEVELOPMENT DISORDERS, autistic behavior, and minor dysmorphic features. OMIM: 606232. |
|
| TERMUI |
T844515 T771314 T840755 T844517 T840758 T840757 T840756 T844516 |
|
| TH |
OMIM (2013) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |