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Gene: Mmp20 MGI:1353466

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

matrix metallopeptidase 20 (enamelysin)

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mmp20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mmp20 (1 diseases)
Human diseases predicted to be associated with Mmp20 (416 diseases)

The table below shows human diseases associated to Mmp20 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia2		Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion	OMIM:612529

The table below shows human diseases predicted to be associated to Mmp20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Ij	Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth	OMIM:617297
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia	OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth	OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal...	OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion	OMIM:612529
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Dental Ankylosis	Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis	ORPHA:1077
Amelogenesis Imperfecta, Type Ih	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the...	OMIM:616221
Amelogenesis Imperfecta, Type If	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color	OMIM:616270
Dentin Dysplasia, Type I	Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth...	OMIM:125400
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Generalized microdontia, Taurodontia	OMIM:104530
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Amelogenesis Imperfecta	Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup...	ORPHA:88661
Regional Odontodysplasia	Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas...	ORPHA:83450
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormality of dental morphology	ORPHA:1653
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth	OMIM:614564
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth	ORPHA:3196
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification	OMIM:125420
Laryngoonychocutaneous Syndrome	Amelogenesis imperfecta	OMIM:245660
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:125490
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel...	OMIM:618386
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown...	OMIM:204650
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Enamel hypoplasia	OMIM:202900
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental enamel morphology	ORPHA:69087
Dens In Dente And Palatal Invaginations	Dens in dente, Abnormality of the dentition	OMIM:125300
Dens Evaginatus	Talon cusp, Abnormality of the dentition	OMIM:125280
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79405
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Oligodontia	Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ...	ORPHA:99798
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas...	ORPHA:49042
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Ectodermal Dysplasia/Short Stature Syndrome	Enamel hypoplasia, Hypodontia	OMIM:616029
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding	OMIM:600907
Taurodontism, Microdontia, And Dens Invaginatus	Microdontia, Dens in dente, Pulp calcification, Taurodontia	OMIM:313490
17Q11.2 Microduplication Syndrome	Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening	ORPHA:139474
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet	Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up...	OMIM:129540
Epidermolysis Bullosa, Junctional, Herlitz Type	Enamel hypoplasia, Atrophic scars, Carious teeth	OMIM:226700
Trichoodontoonychial Dysplasia With Bone Deficiency	Enamel hypoplasia, Anodontia	OMIM:275450
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno...	ORPHA:477781
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Jalili Syndrome	Amelogenesis imperfecta, Carious teeth	OMIM:217080
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters	ORPHA:79402
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	Enamel hypoplasia	ORPHA:91133
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	OMIM:261560
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Carious teeth, Thick vermilion border	ORPHA:363523
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia	OMIM:119540
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia	OMIM:125350
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture	OMIM:203550
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla...	ORPHA:2972
Sjogren-Larsson Syndrome	Enamel hypoplasia	OMIM:270200
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology	ORPHA:248
Trichodental Dysplasia	Conical tooth, Odontodysplasia, Hypodontia	OMIM:601453
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth	ORPHA:2222
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Increased connective tissue	OMIM:226670
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening	OMIM:600991
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Localized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc...	ORPHA:251393
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Oligodontia, Taurodontia	OMIM:272980
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip...	OMIM:234250
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm...	ORPHA:1028
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia	OMIM:615905
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera...	ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate	OMIM:217150
Taurodontism	Taurodontia	OMIM:272700
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b...	ORPHA:1946
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy...	OMIM:601216
Teeth, Supernumerary	Mesiodens, Supernumerary tooth	OMIM:187100
Ameloonychohypohidrotic Syndrome	Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth	OMIM:104570
Lichtenstein Syndrome	Enamel hypoplasia, Carious teeth, Downturned corners of mouth	OMIM:246550
Otodental Syndrome	Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup...	ORPHA:2791
48,Xyyy Syndrome	Enamel hypoplasia, Long philtrum, Irregularly spaced teeth, High palate, Thick lower lip vermilion	ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Micrognathia	OMIM:251190
Otodental Dysplasia	Long philtrum, Pulp calcification, Taurodontia, Hypodontia	OMIM:166750
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo...	OMIM:273050
Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia	OMIM:226650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp	OMIM:612843
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis	ORPHA:3019
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Orofaciodigital Syndrome Type 5	Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-...	ORPHA:2919
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Corneodermatoosseous Syndrome	Hypomature dental enamel, Abnormality of the dentition	OMIM:122440
Xfe Progeroid Syndrome	Enamel hypoplasia, Absence of subcutaneous fat	OMIM:610965
Immunodeficiency 33	Conical tooth, Delayed eruption of teeth, Hypodontia	OMIM:300636
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Oligodontia of primary teeth, No permanent dentition	OMIM:216300
Fibromatosis, Gingival, With Distinctive Facies	Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar...	OMIM:228560
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower...	ORPHA:2025
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,...	OMIM:618363
Mulibrey Nanism	Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental...	OMIM:253250
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted...	ORPHA:2228
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth	ORPHA:2026
Trichodentoosseous Syndrome	Microdontia, Widely spaced teeth, Taurodontia	OMIM:190320
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Enamel hypoplasia, Oligodontia, Hypodontia	OMIM:607626
Gastrointestinal Defects And Immunodeficiency Syndrome	Enamel hypoplasia, Omphalocele	OMIM:243150
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc...	OMIM:170390
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia	ORPHA:59303
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Microdo...	OMIM:618727
Epidermolysis Bullosa Junctionalis With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita	OMIM:226730
Pyle Disease	Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs...	OMIM:265900
Oculocerebrodental Syndrome	Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Microdontia, Retrognathia	ORPHA:557003
Cockayne Syndrome Type 2	Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ...	ORPHA:90322
Cleft Lip/Palate	Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary...	ORPHA:199306
Odontomicronychial Dysplasia	Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth	ORPHA:1811
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Pycnodysostosis	Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste...	OMIM:265800
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormality of the dentition	OMIM:610967
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis	OMIM:612782
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Eem Syndrome	Carious teeth, Abnormality of dental morphology, Selective tooth agenesis, Microdontia, Widely sp...	ORPHA:1897
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Carious teeth	OMIM:604922
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79411
Auriculocondylar Syndrome 2	Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G...	OMIM:614669
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone	ORPHA:3145
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Amelogenesis Imperfecta, Type Ig	Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ...	OMIM:204690
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia	OMIM:263540
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d...	ORPHA:1515
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy	OMIM:141300
Rubinstein-Taybi Syndrome 2	Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,...	OMIM:613684
Odontochondrodysplasia	Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth	ORPHA:166272
Qazi-Markouizos Syndrome	Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, High, narrow palate	ORPHA:3010
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth	OMIM:616353
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Narrow mouth, Atrophic scars, Flexion contracture, Corneal scarring	OMIM:226600
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, H...	OMIM:619184
Blepharophimosis-Impaired Intellectual Development Syndrome	Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Wide mouth, Thin upper lip verm...	OMIM:619293
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Catifa Syndrome	Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Clef...	OMIM:618761
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Aredyld Syndrome	Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia...	ORPHA:1133
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Umbilical hernia, Inguinal hernia, Hypocalcification of dental ...	ORPHA:3134
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormality of the dentition, Abnormal palate morphology	ORPHA:3270
Ohdo Syndrome	Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn...	OMIM:249620
Coffin-Siris Syndrome 10	Wide mouth, Persistence of primary teeth	OMIM:618506
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Tooth Agenesis, Selective, X-Linked, 1	Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem...	OMIM:313500
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening	OMIM:613849
Seckel Syndrome 1	Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, High palate, Dental m...	OMIM:210600
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Carious teeth, Flexion contracture, Hypodontia	OMIM:612079
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Abnormal dental enamel morphology, Mandibular prognathia, Malar flattening	ORPHA:2180
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit...	ORPHA:1031
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Abnormality of the dentition, Supernumerary tooth	ORPHA:1264
Oculodentodigital Dysplasia, Autosomal Recessive	Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet...	OMIM:257850
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Delayed eruption of teeth, Carious teeth	OMIM:277440
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ...	ORPHA:2107
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1782
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Shagreen patch, Hypodontia	ORPHA:1816
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee...	ORPHA:50814
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Raine Syndrome	Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal...	OMIM:259775
Oculotrichodysplasia	Carious teeth, Microdontia of primary teeth, Agenesis of permanent teeth, Widely spaced primary t...	OMIM:257960
Bone Marrow Failure Syndrome 3	Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Hernia, Microdontia, Micrognathia	OMIM:617052
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted lower lip vermilion, Microdontia, Everted upper lip vermilion	ORPHA:181
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
Hypophosphatasia, Adult	Premature loss of primary teeth, Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis	OMIM:146300
48,Xxyy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:10
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Hypophosphatasia, Childhood	Premature loss of primary teeth, Carious teeth	OMIM:241510
Kilquist Syndrome	Wide mouth, Xerostomia, Mandibular prognathia, Hypoplasia of teeth	OMIM:619080
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Premature loss of teeth,...	OMIM:608612
Oslam Syndrome	Carious teeth	ORPHA:2760
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Abnormality of the dentition	OMIM:610968
Temtamy Syndrome	Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding	OMIM:218340
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate	ORPHA:2728
Oculodentodigital Dysplasia	Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Selective too...	OMIM:164200
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Cockayne Syndrome Type 1	Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ...	ORPHA:90321
Auriculocondylar Syndrome 1	Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc...	OMIM:602483
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Mandibuloacral Dysplasia	Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of teeth, Dental crowding, I...	ORPHA:2457
Orofaciodigital Syndrome I	Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,...	OMIM:311200
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Inguinal hernia, Umbilical hernia	OMIM:312830
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Vaginal herni...	ORPHA:2916
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Drooling, A...	OMIM:619229
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora...	ORPHA:952
Cleidocranial Dysplasia	Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo...	OMIM:119600
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft lip and palate	ORPHA:1997
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Short Syndrome	Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ...	ORPHA:3163
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border	OMIM:601957
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology	ORPHA:1458
Dysostosis, Stanescu Type	Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor...	ORPHA:1798
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle...	ORPHA:3253
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Abnormality of the philtrum, Tooth agenesis, ...	ORPHA:2863
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:289157
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:615802
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Corneodermatoosseous Syndrome	Gingivitis, Carious teeth, Abnormal dental enamel morphology	ORPHA:3194
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypoplasia of teeth, Dental crowding, Increased adipose tissue around the neck, Flexion contractu...	OMIM:248370
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners...	ORPHA:391408
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition	ORPHA:3238
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly	Oligodontia, Microdontia, Supernumerary tooth	OMIM:191482
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Arthrogryposis And Ectodermal Dysplasia	Oligodontia, Arthrogryposis multiplex congenita, Abnormal dental enamel morphology, Atypical scar...	OMIM:601701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Mucopolysaccharidosis Type 4	Carious teeth, Abnormal dental enamel morphology, Wide mouth, Grayish enamel, Abnormality of the ...	ORPHA:582
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Amelogenesis imperfecta	OMIM:610319
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo...	ORPHA:3220
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Abnormal palate morphology, Malar flattening	ORPHA:1390
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Cleidocranial Dysplasia	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula...	ORPHA:1452
Odontochondrodysplasia 1	Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth	OMIM:184260
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Acrootoocular Syndrome	Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H...	ORPHA:2980
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele	OMIM:614450
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Delayed eruption of permanent teeth, Dentinogenesis imperfecta, Retrognathia, Prem...	OMIM:619269
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis	OMIM:212750
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss	Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Dental malocclusion, ...	OMIM:603463
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Retrognathia, Microdontia	OMIM:210720
Aplasia Of Lacrimal And Salivary Glands	Xerostomia, Carious teeth	OMIM:180920
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi...	ORPHA:1071
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue	ORPHA:79396
Pde4D Haploinsufficiency Syndrome	Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Thin upp...	ORPHA:439822
Sanjad-Sakati Syndrome	Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:2323
Microcephalic Primordial Dwarfism, Montreal Type	Open bite, Shagreen patch, Carious teeth, Abnormal palate morphology, Lipoatrophy, Micrognathia	ORPHA:2617
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
48,Xxxy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:96263
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger	ORPHA:1883
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Max...	ORPHA:73223
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening	OMIM:608257
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Tooth agenesis	ORPHA:808
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth	OMIM:617337
Osteopetrosis With Renal Tubular Acidosis	Carious teeth, Mandibular prognathia, Dental malocclusion, Abnormality of dental morphology	ORPHA:2785
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Omphalocele	OMIM:600373
Mucopolysaccharidosis, Type Iva	Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ...	OMIM:253000
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Inguinal hernia, Micrognathia, Malar flattening	OMIM:613848
Frank-Ter Haar Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Mandibular prognathia, Wide m...	ORPHA:137834
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Oligodontia, Natal tooth, Hypodontia	OMIM:601345
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Short philtrum, Open mouth, Mandibular prognathia, Thick vermilion border, Exa...	OMIM:300896
Chronic Mucocutaneous Candidiasis	Abnormal lip morphology, Abnormal dental enamel morphology, Abnormality of the mouth, Cheilitis	ORPHA:1334
Mucopolysaccharidosis, Type Ivb	Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ...	OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Long philtrum, Dental crowding, Wide mouth, High palate	OMIM:618825
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Inguinal hernia, Retrognathia, Hypoplasia of the zygomatic bon...	ORPHA:1812
Cherubism	Macular scar, Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impac...	OMIM:118400
Laron Syndrome	Delayed eruption of teeth, Microdontia, Micrognathia, Tooth agenesis	ORPHA:633
49,Xxxxy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:96264
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis	OMIM:150400
Cranioectodermal Dysplasia 3	Widely spaced teeth, Everted lower lip vermilion, Micrognathia, Hypoplasia of teeth	OMIM:614099
Cenani-Lenz Syndrome	Short philtrum, Abnormal dental enamel morphology, Hypodontia, High, narrow palate, Malar flattening	ORPHA:3258
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop...	OMIM:616367
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental enamel morphology, Abnormality of dental morphology, Abnormal palate morphology, ...	ORPHA:85199
Tetrasomy 12P	Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ...	ORPHA:884
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Trichothiodystrophy	Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umbilical her...	ORPHA:33364
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Orofaciodigital Syndrome Type 2	Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ...	ORPHA:2751
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Atrophic scars, Atypical scarring of skin, Keloids, Oral mucosal blisters	ORPHA:79410
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Costello Syndrome	Macroglossia, Abnormal dental enamel morphology, Narrow palate, Abnormality of the dentition, Thi...	ORPHA:3071
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Everted lower lip vermilion, Anodontia, Hypodontia, Microdontia, High palate, ...	OMIM:218330
Craniolenticulosutural Dysplasia	Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Wide mouth, Smooth ...	OMIM:607812
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Oligodontia, Hypodontia	OMIM:614381
Bosma Arhinia Microphthalmia Syndrome	Hypoplasia of teeth, Inguinal hernia, Cleft lip, Cleft palate, High palate, Dental malocclusion, ...	OMIM:603457
Craniometadiaphyseal Dysplasia	Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal...	OMIM:269300
3M Syndrome	Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve...	ORPHA:2616
Orofaciodigital Syndrome Iii	Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia	OMIM:258850
Nail-Patella Syndrome	Enamel hypoplasia, Contracture of the distal interphalangeal joint of the fingers, Flexion contra...	ORPHA:2614
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High palate, Dental mal...	OMIM:264475
Lelis Syndrome	Carious teeth, Abnormality of the mouth, Mandibular prognathia, Hypodontia, Furrowed tongue	ORPHA:140936
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Tooth agenesis, Inguinal hernia, Congenital diaphragma...	ORPHA:2063
Craniometaphyseal Dysplasia, Autosomal Recessive	Facial hyperostosis, Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent ...	OMIM:218400
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, Abnormality of the...	ORPHA:96169
Osteoglosphonic Dysplasia	Inguinal hernia, Micrognathia, Multiple unerupted teeth, Tooth agenesis	ORPHA:2645
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79444
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Micrognathia, Hypoplasia of the tooth germ, Contracture of the proximal interphalang...	ORPHA:293967
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the tongue, Carious teeth, Abnormality of the dentition, Hypodontia, Abnormal oral...	ORPHA:659
Treacher-Collins Syndrome	Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Bra...	ORPHA:861
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion	OMIM:613680
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Hypoplasia of th...	ORPHA:1110
Immunodeficiency 49	Micrognathia, Short philtrum, Natal tooth, Umbilical hernia	OMIM:617237
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate	OMIM:272460
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thin vermilion border, Lipoatrophy, Micrognathia, Hypoplasia of the ma...	OMIM:601812
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla	OMIM:614188
Sotos Syndrome 2	Everted lower lip vermilion, Mandibular prognathia, Advanced eruption of teeth, Narrow mouth	OMIM:614753
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,...	ORPHA:2909
Crisponi/Cold-Induced Sweating Syndrome 1	Long philtrum, Carious teeth, Narrow mouth, Camptodactyly, Trismus, High palate, Retrognathia, Mi...	OMIM:272430
Lacrimoauriculodentodigital Syndrome	Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Abnormal salivary gland morp...	ORPHA:2363
Stuve-Wiedemann Syndrome	Pursed lips, Abnormal dental enamel morphology, Flexion contracture of toe, Malar flattening, Kne...	OMIM:601559
Pachyonychia Congenita 2	Natal tooth	OMIM:167210
Recessive Dystrophic Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79409
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Mandibular prognathia, Advanced eruption of teeth	OMIM:262190
Acrocallosal Syndrome	Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Microretro...	OMIM:200990
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandibular prognathi...	OMIM:268400
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79443
Oculodentodigital Dysplasia	Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Mandibula...	ORPHA:2710
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, Retrognathia	OMIM:601552
Orofaciodigital Syndrome Type 1	Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tongue nodules, Odontogeni...	ORPHA:2750
Momo Syndrome	Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, High palate, Dental maloc...	OMIM:157980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia	ORPHA:3214
Lacrimoauriculodentodigital Syndrome	Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Hypodontia, Xerostomia, Abse...	OMIM:149730
Branchioskeletogenital Syndrome	Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro...	ORPHA:1299
Cockayne Syndrome Type 3	Enamel hypoplasia, Carious teeth, Flexion contracture	ORPHA:90324
Cockayne Syndrome	Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Agenesis of permanent teeth,...	ORPHA:191
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Atypical scarring of s...	ORPHA:2908
Acrofacial Dysostosis, Catania Type	Carious teeth, Microretrognathia, Abnormal palate morphology, Smooth philtrum, Abnormality of the...	ORPHA:1786
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Tuberous Sclerosis 1	Shagreen patch, Dental enamel pits, Gingival fibromatosis	OMIM:191100
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Supernumerary tooth, Abnormality of dental morphology, Tooth agenesis	ORPHA:3353
Eec Syndrome	Carious teeth, Abnormal dental enamel morphology, Taurodontia, Tooth agenesis, Oral cleft, Xerost...	ORPHA:1896
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Carious teeth, Camptodactyly, Smooth philtrum, Abnormality of the dentition, Thick upper lip verm...	ORPHA:363444
Focal Dermal Hypoplasia	Enamel hypoplasia, Hiatus hernia, Oligodontia, Delayed eruption of teeth, Omphalocele, Umbilical ...	OMIM:305600
Focal Dermal Hypoplasia	Open bite, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of dental morp...	ORPHA:2092
X-Linked Hypophosphatemia	Cellulitis, Abnormal dentin morphology, Tooth abscess, Odontodysplasia, Enthesitis	ORPHA:89936
Sener Syndrome	Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, Umbilical hernia, Inguinal hernia, High pal...	OMIM:606156
Eiken Syndrome	Short philtrum, Oligodontia, Persistence of primary teeth, Eruption failure, Multiple impacted te...	OMIM:600002
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:221016
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:221008
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, Mandibular prognathia, Femoral hernia, Wide mouth, Thick vermi...	ORPHA:2658
Barber-Say Syndrome	Delayed eruption of teeth, Thin vermilion border, Mandibular prognathia, Wide mouth, High palate,...	OMIM:209885
Hypophosphatemic Rickets	Periapical tooth abscess, Tooth abscess, Craniofacial osteosclerosis, Craniofacial asymmetry, Odo...	ORPHA:437
Cockayne Syndrome A	Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Atypical scarring of skin,...	OMIM:216400
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Rubinstein-Taybi Syndrome 1	Enamel hypoplasia, Talon cusp, Narrow palate, Narrow mouth, Dental crowding, Flexion contracture,...	OMIM:180849
Incontinentia Pigmenti	Camptodactyly of finger, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit...	ORPHA:464
Distal Trisomy 5Q	Long philtrum, Thin vermilion border, Carious teeth, Narrow mouth, Hernia, Micrognathia	ORPHA:96097
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand	OMIM:309000
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Atypical scarring of skin,...	OMIM:133540
Stickler Syndrome	Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Tooth agenesis, Glosso...	ORPHA:828
Oculocerebrorenal Syndrome Of Lowe	Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Open mouth, Dental cr...	ORPHA:534
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long philtrum, Carious teeth, Atrophic scars, Dentinogenesis imperfecta, Multiple joint contractu...	ORPHA:536467
Familial Osteodysplasia, Anderson Type	Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ...	ORPHA:2769
Familial Adenomatous Polyposis 1	Carious teeth, Abnormality of the dentition, Keloids, Multiple lipomas, Eruption failure, Supernu...	OMIM:175100
Smith-Lemli-Opitz Syndrome	Long philtrum, Abnormal dental enamel morphology, Abnormality of dental morphology, Wide mouth, T...	ORPHA:818
Dyskeratosis Congenita, Autosomal Recessive 1	Oral leukoplakia, Carious teeth, Microdontia	OMIM:224230
Singleton-Merten Syndrome 1	Carious teeth, Hypoplasia of the tooth germ, Smooth philtrum, Eruption failure, Hypoplasia of the...	OMIM:182250
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Supernumerary tooth...	ORPHA:733
Osteogenesis Imperfecta	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o...	ORPHA:666
Elsahy-Waters Syndrome	Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Mandibular prognathia, Dental ...	OMIM:211380
Tetrasomy 9P	Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Short ph...	ORPHA:3310
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Microphthalmia With Linear Skin Defects Syndrome	Mandibular aplasia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Retrognat...	ORPHA:2556
22Q11.2 Deletion Syndrome	Long philtrum, Carious teeth, Short philtrum, Abnormal dental enamel morphology, Narrow mouth, Ab...	ORPHA:567
Kindler Syndrome	Oral leukoplakia, Gingivitis, Carious teeth, Periodontitis	OMIM:173650
Ectodermal Dysplasia-Skin Fragility Syndrome	Carious teeth, Abnormal tongue morphology, Chapped lip, Abnormality of dental morphology, Scarrin...	ORPHA:158668
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Omphalocele, Cheilitis, Inguinal hernia	ORPHA:2273
Williams Syndrome	Open bite, Long philtrum, Carious teeth, Abnormal dental enamel morphology, Macroglossia, Abnorma...	ORPHA:904
Proteus Syndrome	Abnormal dental enamel morphology, Carious teeth, Abnormal subcutaneous fat tissue distribution, ...	ORPHA:744
Johanson-Blizzard Syndrome	Agenesis of permanent teeth, Hypoplasia of the primary teeth	OMIM:243800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mmp20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mmp20.

No publications found that use IMPC mice or data for Mmp20.

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MGI Allele	Allele Type	Produced
Mmp20^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Mmp20^{tm208731(L1L2_Bact_P)}		Targeting vectors

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