Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
5 |
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
10 |
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
5 |
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
7 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Auriculoocular anomaly and cleft lip syndrome |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
6 |
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
5 |
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
6 |
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
An exceedingly rare association characterized by cleft lip and progressive retinopathy. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
5 |
Stress breaker |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Procedure involving a non-removable dental restoration such as crown, bridge or implant. |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Precision attachment denture |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Cast post and core in addition to bridge retainer |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Bridge repair by report |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Cast post as part of bridge retainer |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Core build up for retainer, including any pins |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Prefabricated post and core in addition to bridge retainer |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Precision attachment (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Metal coping |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Construction of temporary dental bridge (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Inflammatory red colored lesion of internal part of mouth caused by drug (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Dental prosthetic device in situ (finding) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Neonatal oral candidiasis |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Chronic secondary oral pain |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Mohr syndrome |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Oral-facial-digital syndrome |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Orofacial-digital syndrome III |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Orofacial-digital syndrome IV |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Oro-facial digital syndrome type 10 (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Oro-facial digital syndrome type 10 (disorder) |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
4 |
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Oral-facial-digital syndrome |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
5 |
Oro-facial digital syndrome type 13 |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Oro-facial digital syndrome type 12 |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Oro-facial digital syndrome type 12 |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Intracavitary brachytherapy of mouth (procedure) |
Procedure site - Indirect (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Coxsackie virus infection of oral cavity (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Mohr syndrome |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Acute oral pseudomembraneous candidiasis |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome III |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome IV |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Pseudomembranous thrush |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions. |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Candidiasis of mouth with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Chronic pseudomembranous oral candidosis (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Chronic plaque-like oral candidosis (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Chronic nodular oral candidosis (disorder) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Measurement of periodontal pocket depth (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Measurement of periodontal pocket depth-six areas per tooth exam |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Measurement of periodontal pocket depth-four areas per tooth exam (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Measurement of periodontal pocket depth-two areas per tooth exam (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Taking an impression for creation of custom surgical obturator prosthesis (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Repair of defect of palate with tongue flap |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Kaposi's sarcoma of palate |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Video soft palate |
Procedure site - Direct (attribute) |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
3 |
Uranoplasty for cleft palate repair |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Hematoma of palate |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Malignant neoplasm of soft palate (disorder) |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Operation on palate |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Taking an impression for creation of custom palatal lift prosthesis (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Malignant neoplasm of palate (disorder) |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Lateral soft palate fistula |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Repair of palate |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Uvulopalatopharyngoplasty |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
plaie ouverte du palais avec complication |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Cauterisation of lesion of palate |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
1 |
Fistula of hard palate (disorder) |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Redundant soft palate (finding) |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Carcinoma of soft palate |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Palate finding |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Previous cleft palate repair |
Finding site |
True |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Primary malignant neoplasm of soft palate |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Uvulopalatoplasty (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Taking an impression for creation of custom definitive obturator prosthesis (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
|
Carcinoma in situ of palate |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Surgical biopsy of palate (procedure) |
Procedure site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |
Fistula of soft palate (disorder) |
Finding site |
False |
Structure of internal part of mouth |
Inferred relationship |
Some |
2 |