Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR

Synonyms

SMMCI SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/147250

altLabel

SMMCI SYNDROME

INCISORS, FUSED

FUSED INCISORS

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

SINGLE CENTRAL MAXILLARY INCISOR

SMMCI

SINGLE UPPER CENTRAL INCISOR

cui

C1840235

Gene Locus

7q36

Gene Symbol

HLP3

MCOPCB5

SMMCI

HPE3

SHH

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036880

http://purl.bioontology.org/ontology/OMIM/MTHU017681

http://purl.bioontology.org/ontology/OMIM/MTHU004501

http://purl.bioontology.org/ontology/OMIM/MTHU017683

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU027154

http://purl.bioontology.org/ontology/OMIM/MTHU017678

http://purl.bioontology.org/ontology/OMIM/MTHU017682

http://purl.bioontology.org/ontology/OMIM/MTHU017680

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU031048

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

147250

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR

tui

T019

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0006315 Human Phenotype Ontology LOOM
http://purl.obolibrary.org/obo/DOID_0111380 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537342 Medical Subject Headings CUI