Solitary median maxillary central incisor

Preferred Label : Solitary median maxillary central incisor;

Symbol : SMMCI;

CISMeF acronym : SMMCI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Incisors, fused; Fused incisors; Single upper central incisor; Single central maxillary incisor;

Included titles and symbols : Solitary median maxillary central incisor syndrome; Smmci syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sonic hedgehog gene (SHH, 600725.0014);

Prefixed ID : #147250;

Détails

Origin ID

147250;

UMLS CUI

C1840235;

Automatic exact mappings (from CISMeF team)
- SHH wt Allele [NCIt concept]
- Solitary median maxillary central incisor syndrome [ICD-11 More detail]
- solitary median maxillary central incisor [DO Concept]
- sonic hedgehog signaling molecule [ORDO Gene]
- sonic hedgehog signaling molecule [HGNC gene]
Currated CISMeF NLP mapping
- Single Central Incisor Syndrome [NCIt concept]
- Single upper central incisor [MeSH concept]
- Solitary median maxillary central incisor [HPO term]
- Solitary median maxillary central incisor syndrome [ORDO Disease]
- Solitary median maxillary central incisor syndrome (disorder) [SNOMED CT concept]
- single upper central incisor [MeSH Supplementary Concept]
DO Cross reference
- solitary median maxillary central incisor [DO Concept]
Genes related to phenotype
- Sonic hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Abnormality of chromosome segregation [HPO term]
- Anophthalmia [HPO term]
- Anosmia [HPO term]
- Anterior hypopituitarism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Cyclopia [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Holoprosencephaly [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Isolated growth hormone deficiency [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Midnasal stenosis [HPO term]
- Prominent median palatal raphe [HPO term]
- Pyriform aperture stenosis [HPO term]
- Short stature [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Specific learning disability [HPO term]
- Torus palatinus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Holoprosencephaly [ORDO Disease]
- Microform holoprosencephaly [ORDO Disease]
- Solitary median maxillary central incisor syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Single upper central incisor [MeSH concept]
- Solitary median maxillary central incisor [HPO term]
- Solitary median maxillary central incisor syndrome [ORDO Disease]
- Solitary median maxillary central incisor syndrome [MedDRA Preferred Term]
- Solitary median maxillary central incisor syndrome (disorder) [SNOMED CT concept]
- single upper central incisor [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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