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