Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162958 Orphanet classification of rare odontological diseases 98026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98026 Rare odontologic disease Category 98027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98027 Rare disease with odontological manifestation Category 557003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 Oculoskeletodental syndrome Disease 685067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Disease 238468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 Hypohidrotic ectodermal dysplasia Disease 181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 X-linked hypohidrotic ectodermal dysplasia Etiological subtype 248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 Autosomal recessive hypohidrotic ectodermal dysplasia Etiological subtype 1810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 Autosomal dominant hypohidrotic ectodermal dysplasia Etiological subtype 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti Malformation syndrome 377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 Gorlin syndrome Malformation syndrome 184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Cherubism Malformation syndrome 2325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 Epidermolysis bullosa simplex with anodontia/hypodontia Malformation syndrome 65282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 Carvajal syndrome Disease 75392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 Periodontal Ehlers-Danlos syndrome Disease 99792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792 Dentin dysplasia-sclerotic bones syndrome Disease 167762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 Rare disease with dentinogenesis imperfecta Category 2771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 Bruck syndrome Malformation syndrome 287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 Classical Ehlers-Danlos syndrome Disease 216812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 Osteogenesis imperfecta type 3 Clinical subtype 216820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 Osteogenesis imperfecta type 4 Clinical subtype 230839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 Classical-like Ehlers-Danlos syndrome type 1 Disease 247651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 Infantile hypophosphatasia Clinical subtype 247667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 Childhood-onset hypophosphatasia Clinical subtype 247676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 Adult hypophosphatasia Clinical subtype 247685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 Odontohypophosphatasia Clinical subtype 363523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Disease 2407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 Laryngo-onycho-cutaneous syndrome Disease 79402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 Intermediate generalized junctional epidermolysis bullosa Disease 79403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 Junctional epidermolysis bullosa with pyloric atresia Disease 79404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 Severe generalized junctional epidermolysis bullosa Disease 79405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 Junctional epidermolysis bullosa inversa Disease 79406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 Late-onset junctional epidermolysis bullosa Disease 231556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Disease 251393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 Localized junctional epidermolysis bullosa Disease 447961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Disease 476096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 Erythrokeratodermia-cardiomyopathy syndrome Disease 98813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 Hypohidrotic ectodermal dysplasia with immunodeficiency Disease 139042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042 Malformation syndrome with odontal and/or periodontal component Category 2720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 Oculocerebral hypopigmentation syndrome, Preus type Malformation syndrome 576278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 SATB2-associated syndrome Malformation syndrome 251028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 SATB2-associated syndrome due to a chromosomal rearrangement Etiological subtype 576283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 SATB2-associated syndrome due to a pathogenic variant Etiological subtype 627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 Nance-Horan syndrome Malformation syndrome 1946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 Amelocerebrohypohidrotic syndrome Malformation syndrome 978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 ADULT syndrome Malformation syndrome 1031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 Enamel-renal syndrome Malformation syndrome 3196 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 Steroid dehydrogenase deficiency-dental anomalies syndrome Disease 1660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 Dermoodontodysplasia Malformation syndrome 1811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 Odontomicronychial dysplasia Malformation syndrome 1873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 Jalili syndrome Malformation syndrome 1818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 Ectodermal dysplasia, trichoodontoonychial type Malformation syndrome 1997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 Blepharo-cheilo-odontic syndrome Malformation syndrome 2010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 Cleft palate-stapes fixation-oligodontia syndrome Malformation syndrome 2025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 Gingival fibromatosis-facial dysmorphism syndrome Malformation syndrome 2026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 Gingival fibromatosis-hypertrichosis syndrome Malformation syndrome 2027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 Gingival fibromatosis-progressive deafness syndrome Malformation syndrome 2028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 Juvenile hyaline fibromatosis Clinical subtype 2067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 GAPO syndrome Malformation syndrome 2228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 Hypodontia-dysplasia of nails syndrome Malformation syndrome 2332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 KBG syndrome Malformation syndrome 2342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 Haim-Munk syndrome Disease 2363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 Lacrimoauriculodentodigital syndrome Malformation syndrome 2561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 Pyramidal molars-abnormal upper lip syndrome Malformation syndrome 2709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 Oculodental syndrome, Rutherfurd type Malformation syndrome 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 Oculodentodigital dysplasia Malformation syndrome 2712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 Oculofaciocardiodental syndrome Malformation syndrome 2719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 Oculocerebral hypopigmentation syndrome, Cross type Malformation syndrome 2721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 Odonto-onycho-dermal dysplasia Disease 2722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 Odonto-onycho dysplasia-alopecia syndrome Malformation syndrome 2723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 Odontotrichomelic syndrome Malformation syndrome 2724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 Odontomatosis-aortae esophagus stenosis syndrome Malformation syndrome 2791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 Otodental syndrome Malformation syndrome 678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 Papillon-Lefèvre syndrome Disease 2892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 Pilodental dysplasia-refractive errors syndrome Malformation syndrome 2899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 Brachyolmia-amelogenesis imperfecta syndrome Malformation syndrome 2916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 Postaxial polydactyly-dental and vertebral anomalies syndrome Malformation syndrome 2972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Malformation syndrome 3019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 Ramon syndrome Malformation syndrome 3184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 Steatocystoma multiplex-natal teeth syndrome Malformation syndrome 3220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 Deafness-enamel hypoplasia-nail defects syndrome Malformation syndrome 3230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 Deafness-oligodontia syndrome Malformation syndrome 3351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 Trichodental syndrome Malformation syndrome 3352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 Tricho-dento-osseous syndrome Malformation syndrome 3353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 Trichodermodysplasia-dental alterations syndrome Malformation syndrome 3355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 Trichoodontoonychial dysplasia Malformation syndrome 562559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome Malformation syndrome 3473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 Zimmermann-Laband syndrome Malformation syndrome 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 50944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 Schöpf-Schulz-Passarge syndrome Disease 69082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 Odonto-tricho-ungual-digito-palmar syndrome Malformation syndrome 69083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 Ectodermal dysplasia with natal teeth, Turnpenny type Malformation syndrome 79129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 Trichodysplasia-amelogenesis imperfecta syndrome Malformation syndrome 99806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 Oculootodental syndrome Malformation syndrome 1452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 Cleidocranial dysplasia Malformation syndrome 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 180766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 Malformative syndrome with dentinogenesis imperfecta Category 1830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 Schimke immuno-osseous dysplasia Disease 71267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Malformation syndrome 166272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 Odontochondrodysplasia Malformation syndrome 166277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Malformation syndrome 284149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 Craniosynostosis-dental anomalies Malformation syndrome 401911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 AXIN2-related polyposis Disease 307766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 Curly hair-acral keratoderma-caries syndrome Disease 307936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Disease 363417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome Malformation syndrome 314555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome Malformation syndrome 659873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome Malformation syndrome 664438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome Malformation syndrome 684232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome Malformation syndrome 697356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome Malformation syndrome 589608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Disease 598603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome Malformation syndrome 164001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001 Rare odontal or periodontal disorder Category 1077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 Dental ankylosis Malformation syndrome 2024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 Hereditary gingival fibromatosis Malformation syndrome 2287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 Fused mandibular incisors Morphological anomaly 67039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039 Segmental odontomaxillary dysplasia Disease 83450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450 Regional odontodysplasia Disease 83451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451 Florid cemento-osseous dysplasia Disease 88661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 Amelogenesis imperfecta Disease 100031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 Hypoplastic amelogenesis imperfecta Clinical subtype 100032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 Hypocalcified amelogenesis imperfecta Clinical subtype 100033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 Hypomaturation amelogenesis imperfecta Clinical subtype 100034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Clinical subtype 99797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797 Anodontia Morphological anomaly 99798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 Oligodontia Morphological anomaly 167759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 Hereditary dentin defect Category 1653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 Dentin dysplasia Disease 99789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 Dentin dysplasia type I Clinical subtype 99791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 Dentin dysplasia type II Clinical subtype 314721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 Atypical dentin dysplasia due to SMOC2 deficiency Clinical subtype 49042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 Dentinogenesis imperfecta Disease 166260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 Dentinogenesis imperfecta type 2 Clinical subtype 166265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 Dentinogenesis imperfecta type 3 Clinical subtype 412206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 Primary failure of tooth eruption Disease 444072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 Cerebellar-facial-dental syndrome Malformation syndrome 314425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314425 Rare odontogenic tumor Category 314419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419 Ameloblastoma Disease 314422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422 Ameloblastic carcinoma Disease 447777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777 Keratocystic odontogenic tumor Disease 689430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689430 Adenoid ameloblastoma Disease