loading...| Preferred Name |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
|
| Synonyms |
SINGLE UPPER CENTRAL INCISOR |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/147250 |
|
| altLabel |
SINGLE UPPER CENTRAL INCISOR SMMCI SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME INCISORS, FUSED FUSED INCISORS SMMCI SYNDROME |
|
| cui |
C1840235 |
|
| Gene Locus |
7q36 |
|
| Gene Symbol |
HLP3 SHH MCOPCB5 HPE3 SMMCI |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU036880 http://purl.bioontology.org/ontology/OMIM/MTHU017681 http://purl.bioontology.org/ontology/OMIM/MTHU017682 http://purl.bioontology.org/ontology/OMIM/MTHU036653 http://purl.bioontology.org/ontology/OMIM/MTHU017680 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
|
| 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 |