Orphanet classification: Rare odontologic disease (ORPHA:98026)
Disorder type: Category
Subcategories and diseases:
Name: Rare disease with odontological manifestation
OrphaCode: 98027
DisorderType: Category
Children: Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Dentin dysplasia-sclerotic bones syndrome
OrphaCode: 99792
DisorderType: Disease
Name: Rare disease with dentinogenesis imperfecta
OrphaCode: 167762
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphaCode: 363523
DisorderType: Disease
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Intermediate generalized junctional epidermolysis bullosa
OrphaCode: 79402
DisorderType: Disease
Name: Junctional epidermolysis bullosa with pyloric atresia
OrphaCode: 79403
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Junctional epidermolysis bullosa inversa
OrphaCode: 79405
DisorderType: Disease
Name: Late-onset junctional epidermolysis bullosa
OrphaCode: 79406
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Localized junctional epidermolysis bullosa
OrphaCode: 251393
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Malformation syndrome with odontal and/or periodontal component
OrphaCode: 139042
DisorderType: Category
Children: Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Steroid dehydrogenase deficiency-dental anomalies syndrome
OrphaCode: 3196
DisorderType: Disease
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Odontomicronychial dysplasia
OrphaCode: 1811
DisorderType: Malformation syndrome
Name: Jalili syndrome
OrphaCode: 1873
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft palate-stapes fixation-oligodontia syndrome
OrphaCode: 2010
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-facial dysmorphism syndrome
OrphaCode: 2025
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodental syndrome, Rutherfurd type
OrphaCode: 2709
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Odontomatosis-aortae esophagus stenosis syndrome
OrphaCode: 2724
DisorderType: Malformation syndrome
Name: Otodental syndrome
OrphaCode: 2791
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-dental and vertebral anomalies syndrome
OrphaCode: 2916
DisorderType: Malformation syndrome
Name: Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
OrphaCode: 2972
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Steatocystoma multiplex-natal teeth syndrome
OrphaCode: 3184
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Oculootodental syndrome
OrphaCode: 99806
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Malformative syndrome with dentinogenesis imperfecta
OrphaCode: 180766
DisorderType: Category
Children: Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Oligodontia-cancer predisposition syndrome
OrphaCode: 300576
DisorderType: Disease
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Rare odontal or periodontal disorder
OrphaCode: 164001
DisorderType: Category
Children: Name: Dental ankylosis
OrphaCode: 1077
DisorderType: Malformation syndrome
Name: Hereditary gingival fibromatosis
OrphaCode: 2024
DisorderType: Malformation syndrome
Name: Fused mandibular incisors
OrphaCode: 2287
DisorderType: Morphological anomaly
Name: Segmental odontomaxillary dysplasia
OrphaCode: 67039
DisorderType: Disease
Name: Regional odontodysplasia
OrphaCode: 83450
DisorderType: Disease
Name: Florid cemento-osseous dysplasia
OrphaCode: 83451
DisorderType: Disease
Name: Amelogenesis imperfecta
OrphaCode: 88661
DisorderType: Disease
Children: Name: Hypoplastic amelogenesis imperfecta
OrphaCode: 100031
DisorderType: Clinical subtype
Name: Hypocalcified amelogenesis imperfecta
OrphaCode: 100032
DisorderType: Clinical subtype
Name: Hypomaturation amelogenesis imperfecta
OrphaCode: 100033
DisorderType: Clinical subtype
Name: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
OrphaCode: 100034
DisorderType: Clinical subtype
Name: Anodontia
OrphaCode: 99797
DisorderType: Morphological anomaly
Name: Oligodontia
OrphaCode: 99798
DisorderType: Morphological anomaly
Name: Hereditary dentin defect
OrphaCode: 167759
DisorderType: Category
Children: Name: Dentin dysplasia
OrphaCode: 1653
DisorderType: Disease
Children: Name: Dentin dysplasia type I
OrphaCode: 99789
DisorderType: Clinical subtype
Name: Dentin dysplasia type II
OrphaCode: 99791
DisorderType: Clinical subtype
Name: Atypical dentin dysplasia due to SMOC2 deficiency
OrphaCode: 314721
DisorderType: Clinical subtype
Name: Dentinogenesis imperfecta
OrphaCode: 49042
DisorderType: Disease
Children: Name: Dentinogenesis imperfecta type 2
OrphaCode: 166260
DisorderType: Clinical subtype
Name: Dentinogenesis imperfecta type 3
OrphaCode: 166265
DisorderType: Clinical subtype
Name: Primary failure of tooth eruption
OrphaCode: 412206
DisorderType: Disease
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Rare odontogenic tumor
OrphaCode: 314425
DisorderType: Category
Children: Name: Ameloblastoma
OrphaCode: 314419
DisorderType: Disease
Name: Ameloblastic carcinoma
OrphaCode: 314422
DisorderType: Disease
Name: Keratocystic odontogenic tumor
OrphaCode: 447777
DisorderType: Disease
Name: Intraoral basal cell carcinoma
OrphaCode: 667678
DisorderType: Disease