loading...| Preferred Name |
solitary median maxillary central incisor syndrome |
|
| Synonyms |
single median maxillary central incisor solitary median maxillary central incisor syndrome single upper central incisor SMMCI incisors fused SMMCI syndrome single central maxillary incisor solitary MEDIAN maxillary central incisor Fused incisors incisors, Fused |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007819 |
|
| has_exact_synonym |
single median maxillary central incisor solitary median maxillary central incisor syndrome single upper central incisor SMMCI |
|
| has_related_synonym |
incisors fused SMMCI syndrome single central maxillary incisor solitary MEDIAN maxillary central incisor Fused incisors incisors, Fused |
|
| IAO_0000233 | ||
| label |
solitary median maxillary central incisor syndrome |
|
| prefixIRI |
MONDO:0007819 |
|
| prefLabel |
solitary median maxillary central incisor syndrome |
|
| textual definition |
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. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007819 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007819 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007819 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007819 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/707609006 | SNOMEDCT | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_2153 | HRDO | LOOM |