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loading...| Preferred Name |
Single upper central incisor |
| Synonyms |
SMMCI Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537342 |
| altLabel |
SMMCI Syndrome Solitary median maxillary central incisor syndrome Fused incisors SMMCI Solitary median maxillary central incisor Solitary median maxillary central incisor Incisors, Fused Single central maxillary incisor |
| cui |
C1840235 |
| Has mapping qualifier | |
| HM |
D000848 D007180/Q000002 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
33 |
| MMR |
20190620 |
| notation |
C537342 |
| prefLabel |
Single upper central incisor |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. OMIM: 147250 |
| TERMUI |
T000961580 T742261 T804261 T742266 T742265 T742262 T742264 T823500 |
| TH |
ORD (2010) OMIM (2013) NLM (2019) |
| tui |
T019 |
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