solitary median maxillary central incisor syndrome

solitary median maxillary central incisor syndrome

http://purl.obolibrary.org/obo/MONDO_0007819

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. [ https://omim.org/entry/147250 ]

Synonyms: single median maxillary central incisor solitary median maxillary central incisor syndrome SMMCI single upper central incisor

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Term mappings

This is just here as a test because I lose it

Term information

database cross reference

Orphanet:2286 (OMIM:147250)
MESH:C537342 (Orphanet:2286/e)
SCTID:707609006 (MONDO:equivalentTo)
OMIM:147250 (Orphanet:2286/e)
GARD:4877 (MONDO:GARD)
UMLS:C1840235 (MONDO:equivalentTo)
MEDGEN:326686 (MONDO:equivalentTo)

Subsets

gard_rare, otar, rare, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://identifiers.org/medgen/326686

http://linkedlifedata.com/resource/umls/id/C1840235

https://omim.org/entry/147250

http://identifiers.org/mesh/C537342

http://identifiers.org/snomedct/707609006

has related synonym

incisors, Fused

SMMCI syndrome

Fused incisors

solitary MEDIAN maxillary central incisor

incisors fused

single central maxillary incisor

MONDO:0007819

Term relations

Subclass of: