loading...| 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/MTHU017678 http://purl.bioontology.org/ontology/OMIM/MTHU017682 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
147250 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
| Scope Statement |
SMCCI can be an isolated anomaly, part of a syndrome or association as in VACTERL (192350) and CHARGE (214800), part of autosomal dominant holoprosencephaly spectrum such as in HPE3 (142945), HPE2 (157170), and HPE4 (142946), or a feature in chromosomal abnormalities such as del(18p) and del(7)(q36->qter) [MISCELLANEOUS] Caused by mutation in the sonic hedgehog gene (SHH, 600725.0014) [MOLECULAR BASIS] |
| tui |
T019 |