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Gene: Mmp20 MGI:1353466

Gene Summary

Name:

matrix metallopeptidase 20 (enamelysin)

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal thymus morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.39×10^-06
abnormal spleen morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth color	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lean body mass	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	1.30×10^-06
decreased body weight	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	1.87×10^-07
increased prepulse inhibition	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	4.83×10^-05
enlarged thymus	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lung elastance	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.27×10^-06

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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 (421 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		Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	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	Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	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, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel	OMIM:613211
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	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, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	OMIM:612529
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Ih	Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent...	OMIM:616221
Amelogenesis Imperfecta, Type If	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color	OMIM:616270
Dentin Dysplasia, Type I	Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ...	OMIM:125400
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta	OMIM:104510
Dentinogenesis Imperfecta, Shields Type Iii	Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ...	OMIM:125500
Amelogenesis Imperfecta, Type Ia	Taurodontia, Amelogenesis imperfecta, Generalized microdontia	OMIM:104530
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Dentin Dysplasia	Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth	OMIM:614564
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification	OMIM:125420
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:125490
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te...	OMIM:618386
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters, Carious teeth	ORPHA:79406
Amelogenesis Imperfecta, Type Ic	Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati...	OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia	OMIM:226650
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Enamel hypoplasia	OMIM:202900
Epidermolysis Bullosa, Junctional 4, Intermediate	Scarring alopecia of scalp, Dental enamel pits, Carious teeth	OMIM:619787
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth	ORPHA:79405
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors	OMIM:114700
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena...	ORPHA:49042
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Ectodermal Dysplasia/Short Stature Syndrome	Enamel hypoplasia, Hypodontia	OMIM:616029
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding	OMIM:600907
Taurodontism, Microdontia, And Dens Invaginatus	Dens in dente, Taurodontia, Microdontia, Pulp calcification	OMIM:313490
17Q11.2 Microduplication Syndrome	Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening	ORPHA:139474
Trichoodontoonychial Dysplasia With Bone Deficiency	Enamel hypoplasia, Anodontia	OMIM:275450
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Jalili Syndrome	Amelogenesis imperfecta, Carious teeth	OMIM:217080
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars	ORPHA:79402
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Atrophic scars, Carious teeth	OMIM:226700
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	OMIM:261560
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Thick vermilion border, Carious teeth	ORPHA:363523
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
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	Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel	OMIM:203550
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr...	ORPHA:2972
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Trichodental Dysplasia	Odontodysplasia, Conical tooth, Hypodontia	OMIM:601453
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Jalili Syndrome	Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color	ORPHA:1873
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:71267
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening	OMIM:600991
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Pili Torti	Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:2889
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Localized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin...	ORPHA:251393
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Oligodontia, Taurodontia	OMIM:272980
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental...	ORPHA:2325
Hall-Riggs Mental Retardation Syndrome	U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam...	OMIM:234250
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia	OMIM:615905
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Widely spaced teeth, Dental malocclusion, Malar flattening	OMIM:616108
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ...	ORPHA:1028
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Tricho-Dento-Osseous Syndrome	Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio...	ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Pseudohypoaldosteronism Type 2	Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:757
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec...	ORPHA:1946
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Taurodontism	Taurodontia	OMIM:272700
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Dental Anomalies And Short Stature	Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ...	OMIM:601216
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth	OMIM:226670
Teeth, Supernumerary	Supernumerary tooth, Mesiodens	OMIM:187100
Otodental Syndrome	Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn...	ORPHA:2791
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup...	OMIM:104570
48,Xyyy Syndrome	High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion	ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Micrognathia	OMIM:251190
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Carious teeth	OMIM:161000
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth	OMIM:612843
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting...	OMIM:273050
Ramon Syndrome	Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology	ORPHA:3019
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Orofaciodigital Syndrome Type 5	Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth...	ORPHA:2919
Fibromatosis, Gingival, With Distinctive Facies	High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir...	OMIM:228560
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva...	ORPHA:2025
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M...	OMIM:618363
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Taurodontia, Pulp calcification	OMIM:211900
Mulibrey Nanism	Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,...	OMIM:253250
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Corneodermatoosseous Syndrome	Hypomature dental enamel	OMIM:122440
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis	ORPHA:2026
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet...	ORPHA:2228
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d...	ORPHA:69087
Trichodentoosseous Syndrome	Widely spaced teeth, Taurodontia, Microdontia	OMIM:190320
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Enamel hypoplasia, Oligodontia, Hypodontia	OMIM:607626
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Hypodontia	OMIM:300636
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology	ORPHA:59303
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy...	OMIM:619980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En...	OMIM:618727
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Pyle Disease	Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs...	OMIM:265900
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars	OMIM:226730
Oculocerebrodental Syndrome	Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia	ORPHA:557003
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Cockayne Syndrome Type 2	Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra...	ORPHA:90322
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Amelogenesis Imperfecta, Type Ig	Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth	ORPHA:1811
Immunodeficiency 9	Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis	OMIM:612782
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Atrophic scars, Carious teeth	ORPHA:79411
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth	ORPHA:3145
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal palate morphology, Abnormal dental enamel morphology	ORPHA:3236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	High palate, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplasia, Ankyloglossia, ...	OMIM:618874
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Carious teeth	OMIM:604922
Auriculocondylar Syndrome 2	Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi...	OMIM:614669
Qazi-Markouizos Syndrome	Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth	ORPHA:3010
Eem Syndrome	Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot...	ORPHA:1897
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Cranioectodermal Dysplasia	Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ...	ORPHA:1515
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia	OMIM:263540
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Hemifacial Atrophy, Progressive	Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Rubinstein-Taybi Syndrome 2	High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre...	OMIM:613684
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At...	OMIM:226600
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:166272
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Acrootoocular Syndrome	Anodontia, Dental malocclusion, Failure to thrive, Supernumerary tooth, High, narrow palate, Decr...	ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border...	OMIM:619184
Usher Syndrome Type 2	Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth	ORPHA:231178
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla...	OMIM:619293
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Catifa Syndrome	Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt...	OMIM:618761
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Aredyld Syndrome	Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Advanced...	ORPHA:1133
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Abnormality of the dentition, Carious teeth	ORPHA:3270
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Coffin-Siris Syndrome 10	Wide mouth, Persistence of primary teeth	OMIM:618506
Ohdo Syndrome	Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia...	OMIM:249620
Tooth Agenesis, Selective, X-Linked, 1	Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later...	OMIM:313500
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Andersen Cardiodysrhythmic Periodic Paralysis	High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten...	OMIM:170390
Scarf Syndrome	Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ...	ORPHA:3134
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
Enamel-Renal Syndrome	Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d...	ORPHA:1031
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth	ORPHA:2501
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth	OMIM:613849
Seckel Syndrome 1	High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co...	OMIM:210600
Pycnodysostosis	High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon...	ORPHA:763
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Oligodontia, Supernumerary tooth	ORPHA:1264
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth	OMIM:612079
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi...	OMIM:257850
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate	OMIM:619692
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology	ORPHA:2180
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1782
Hall-Riggs Syndrome	Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor...	ORPHA:2107
Temtamy Syndrome	Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum	OMIM:218340
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Kohlschutter-Tonz Syndrome-Like	Decreased body weight, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced...	OMIM:619229
Oculotrichodysplasia	Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t...	OMIM:257960
Bone Marrow Failure Syndrome 3	Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis imperfecta	OMIM:617052
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e...	ORPHA:50814
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Shagreen patch, Delayed eruption of teeth, Hypodontia	ORPHA:1816
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Abnormality of the dentition	ORPHA:1858
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Delayed eruption of teeth, Carious teeth	OMIM:277440
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion	ORPHA:181
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
Hypophosphatasia, Childhood	Premature loss of primary teeth, Carious teeth	OMIM:241510
48,Xxyy Syndrome	Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ...	ORPHA:10
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Osteogenesis Imperfecta, Type Xi	Abnormality of the dentition, Dentinogenesis imperfecta	OMIM:610968
Andersen-Tawil Syndrome	High palate, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Oligodonti...	ORPHA:37553
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate	ORPHA:2728
Hamamy Syndrome	High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm...	OMIM:611174
Specific Granule Deficiency 2	Amelogenesis imperfecta, Conical tooth, Tooth malposition	OMIM:617475
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Enamel hypoplasia	OMIM:614576
Oslam Syndrome	Carious teeth	ORPHA:2760
Oculodentodigital Dysplasia	Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ...	OMIM:164200
Hypophosphatasia, Adult	Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth	OMIM:146300
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition	OMIM:615802
Mandibuloacral Dysplasia	High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia...	ORPHA:2457
Raine Syndrome	High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro...	OMIM:259775
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena...	ORPHA:2916
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Cockayne Syndrome Type 1	Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Abnormality of...	ORPHA:90321
Acrofacial Dysostosis, Weyers Type	Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med...	ORPHA:952
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental morphology, Precocious puberty, Abnormality of dental color	OMIM:163200
Kilquist Syndrome	Wide mouth, Hypoplasia of teeth, Mandibular prognathia	OMIM:619080
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft lip and palate, Conical tooth, Carious teeth	ORPHA:1997
Scarf Syndrome	Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia	OMIM:312830
Auriculocondylar Syndrome 1	Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m...	OMIM:602483
Mandibuloacral Dysplasia With Type B Lipodystrophy	High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr...	OMIM:608612
Codas Syndrome	Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1458
Dysostosis, Stanescu Type	Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo...	ORPHA:1798
Xfe Progeroid Syndrome	Enamel hypoplasia, Premature loss of teeth, Absence of subcutaneous fat, Corneal scarring	OMIM:610965
Short Syndrome	Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno...	ORPHA:3163
Cleidocranial Dysplasia 1	High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten...	OMIM:119600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth...	ORPHA:3253
Mucopolysaccharidosis, Type Ivb	Wide mouth, Hepatomegaly, Grayish enamel, Carious teeth, Widely spaced teeth, Restrictive ventila...	OMIM:253010
Usher Syndrome	Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth	ORPHA:886
Odontotrichoungual-Digital-Palmar Syndrome	Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth	OMIM:601957
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br...	ORPHA:2863
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Corneodermatoosseous Syndrome	Gingivitis, Abnormal dental enamel morphology, Carious teeth	ORPHA:3194
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Mucopolysaccharidosis, Type Iva	Wide mouth, Hepatomegaly, Grayish enamel, Carious teeth, Widely spaced teeth, Bronchoconstriction...	OMIM:253000
Cole-Carpenter Syndrome	Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2050
Tooth Agenesis, Selective, 3	Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar	OMIM:604625
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou...	ORPHA:391408
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:289157
Cole-Carpenter Syndrome 2	High palate, Dentinogenesis imperfecta, Microretrognathia	OMIM:616294
Orofaciodigital Syndrome I	High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ...	OMIM:311200
Mucopolysaccharidosis Type 4	Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Abnormal dental ...	ORPHA:582
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Amelogenesis imperfecta	OMIM:610319
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth	ORPHA:457365
Osteogenesis Imperfecta, Type Iii	Micrognathia, Dentinogenesis imperfecta	OMIM:259420
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth	ORPHA:1390
Porphyria, Congenital Erythropoietic	Cholelithiasis, Erythrodontia, Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact...	OMIM:601701
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho...	ORPHA:3220
Cleidocranial Dysplasia	Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor...	ORPHA:1452
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Asthma, Hepatomegaly, Failure...	OMIM:612714
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypocalcification of dental enamel, Amelogenesis imperfecta	ORPHA:169090
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele	OMIM:614450
Teebi Hypertelorism Syndrome 2	High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T...	OMIM:619736
Odontochondrodysplasia 1	Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta	OMIM:184260
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors	OMIM:610706
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption...	OMIM:619269
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss	Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi...	OMIM:603463
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W...	ORPHA:1071
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis	OMIM:212750
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Enamel hypoplasia, Microdontia	OMIM:210720
Pde4D Haploinsufficiency Syndrome	Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu...	ORPHA:439822
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ...	ORPHA:73223
Developmental And Epileptic Encephalopathy 100	High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod...	OMIM:619777
Seckel Syndrome	Micrognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:808
48,Xxxy Syndrome	Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ...	ORPHA:96263
Congenital Disorder Of Glycosylation, Type Iim	High palate, Short philtrum, Enamel hypoplasia, Exaggerated cupid's bow, Open mouth, Thick vermil...	OMIM:300896
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Pycnodysostosis	Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru...	OMIM:265800
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth	OMIM:617337
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding	OMIM:618825
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Carious teeth	ORPHA:1883
Sanjad-Sakati Syndrome	Thin vermilion border, Abnormality of the dentition, Micrognathia, Long philtrum, Abnormal dental...	ORPHA:2323
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Atrophic scars, Scarring	ORPHA:79396
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Frank-Ter Haar Syndrome	Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto...	ORPHA:137834
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth...	OMIM:607812
Osteogenesis Imperfecta, Type X	Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening	OMIM:613848
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Joint contracture of the hand, Malar flattening, Micrognathia, Camptodactyly	OMIM:608257
Isolated Anencephaly	Thymus hyperplasia, Cleft lip	ORPHA:563609
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Acrocallosal Syndrome	High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m...	OMIM:200990
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Omphalocele	OMIM:600373
49,Xxxxy Syndrome	Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna...	ORPHA:96264
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the zygomatic bone, Abnor...	ORPHA:1812
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Oligodontia, Hypodontia, Natal tooth	OMIM:601345
Cenani-Lenz Syndrome	Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Abnormal dental enamel morphology	ORPHA:3258
Osteogenesis Imperfecta	Dental malocclusion, Dentinogenesis imperfecta, Small for gestational age, Abnormality of the den...	ORPHA:666
Laron Syndrome	Micrognathia, Tooth agenesis, Delayed eruption of teeth, Microdontia	ORPHA:633
Cherubism	Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe...	OMIM:118400
Cranioectodermal Dysplasia 3	Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion	OMIM:614099
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Mandibuloacral Dysplasia With Type A Lipodystrophy	High palate, Premature loss of teeth, Reduced subcutaneous adipose tissue, Increased adipose tiss...	OMIM:248370
Tetrasomy 12P	Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi...	ORPHA:884
Mandibulofacial Dysostosis With Alopecia	Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,...	OMIM:616367
Beaulieu-Boycott-Innes Syndrome	Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Carious teeth	OMIM:613680
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Wide mouth, Cleft palate, Malar flattening, Micrognathia, Thick vermi...	ORPHA:85199
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Costello Syndrome	Narrow palate, Macroglossia, Abnormality of the dentition, Abnormal dental enamel morphology, Thi...	ORPHA:3071
Trichothiodystrophy	Multiple joint contractures, High, narrow palate, Retrognathia, Carious teeth, Enamel hypoplasia,...	ORPHA:33364
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Long philtrum, Enamel agenesis...	OMIM:614701
Dyskeratosis Congenita, Autosomal Recessive 6	Premature loss of teeth, Oral leukoplakia, Carious teeth	OMIM:616353
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Dental malocclusion, Hip contracture, Carious teeth, Enamel ...	OMIM:216400
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Keloids, Atrophic scars, Atypical scarring of skin	ORPHA:79410
3M Syndrome	Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve...	ORPHA:2616
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Orofaciodigital Syndrome Type 2	High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate...	ORPHA:2751
Nail-Patella Syndrome	Flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Enamel hypop...	ORPHA:2614
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Inguinal hernia, Cleft palate, Failure of eruption of permanent teeth	OMIM:272460
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm...	ORPHA:96169
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Micrognathia, De...	OMIM:264475
Craniometadiaphyseal Dysplasia	High palate, Malar flattening, Microdontia, Carious teeth, Natal tooth, Dental crowding, Mandibul...	OMIM:269300
Bosma Arhinia Microphthalmia Syndrome	High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Inguinal hernia, Clef...	OMIM:603457
Immunodeficiency 49	Micrognathia, Short philtrum, Natal tooth, Umbilical hernia	OMIM:617237
Cranioectodermal Dysplasia 1	High palate, Anodontia, High, narrow palate, Hypodontia, Everted lower lip vermilion, Inguinal he...	OMIM:218330
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Micrognathia, Hypoplasia of the tooth germ, Bifid uvula, Contracture of the proximal interphalang...	ORPHA:293967
Orofaciodigital Syndrome Iii	Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules	OMIM:258850
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the tongue, Hypodontia, Abnormality of the dentition, Carious teeth, Abnormal oral...	ORPHA:659
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Congenital Erythropoietic Porphyria	Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulo...	ORPHA:79277
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Narrow mouth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Carious teeth, Mandi...	ORPHA:1110
Treacher-Collins Syndrome	High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ...	ORPHA:861
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79444
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythrodontia, Erythroid hyperplasia, Splenomegaly	ORPHA:95159
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma...	OMIM:601812
Lelis Syndrome	Mandibular prognathia, Furrowed tongue, Hypodontia, Carious teeth	ORPHA:140936
Crisponi/Cold-Induced Sweating Syndrome 1	High palate, Narrow mouth, Retrognathia, Micrognathia, Long philtrum, Carious teeth, Camptodactyl...	OMIM:272430
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth	OMIM:259710
Rothmund-Thomson Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Abnormality of the dentition, Delayed eru...	ORPHA:2909
Malan Syndrome	Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o...	OMIM:614753
Proteus-Like Syndrome	Splenomegaly, Open bite, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ova...	ORPHA:2969
Lacrimoauriculodentodigital Syndrome	Hypodontia, Abnormality of the dentition, Micrognathia, Microdontia, Bifid uvula, Abnormal saliva...	ORPHA:2363
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Atrophic scars, Carious teeth	ORPHA:79409
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Mandibular prognathia, Advanced eruption of teeth	OMIM:262190
Pachyonychia Congenita 2	Angular cheilitis, Oral leukoplakia, Natal tooth	OMIM:167210
Rothmund-Thomson Syndrome, Type 2	High palate, Supernumerary tooth, Micrognathia, Agenesis of permanent teeth, Delayed eruption of ...	OMIM:268400
Oculodentodigital Dysplasia	Tooth agenesis, Taurodontia, Cleft palate, Micrognathia, Camptodactyly of finger, Premature loss ...	ORPHA:2710
Momo Syndrome	High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p...	OMIM:157980
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79443
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth	ORPHA:3214
Orofaciodigital Syndrome Type 1	High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate...	ORPHA:2750
Cockayne Syndrome Type 3	Enamel hypoplasia, Flexion contracture, Carious teeth	ORPHA:90324
Branchioskeletogenital Syndrome	Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif...	ORPHA:1299
Rubinstein-Taybi Syndrome 1	High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,...	OMIM:180849
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dental malocclusion, Abnormal number of teeth, Agenesis of p...	ORPHA:191
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Flexion contracture, Camptodactyly of finger, Premature loss of primary...	ORPHA:2908
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Inguinal hernia	OMIM:610915
Lacrimoauriculodentodigital Syndrome	Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Carious teeth, Enamel hypoplas...	OMIM:149730
Focal Dermal Hypoplasia	Tooth agenesis, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Open bite, I...	ORPHA:2092
Tuberous Sclerosis 1	Gingival fibromatosis, Shagreen patch, Dental enamel pits	OMIM:191100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Micrognathia, Chylothorax	OMIM:619036
Trichodermodysplasia-Dental Alterations Syndrome	Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth	ORPHA:3353
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Dental malocclusion, Microretrognathia, Carious teeth	OMIM:615560
Alström Syndrome	Respiratory distress, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hy...	ORPHA:64
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand	OMIM:309000
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Eiken Syndrome	Eruption failure, Persistence of primary teeth, Short philtrum, Oligodontia, Multiple unerupted t...	OMIM:600002
Focal Dermal Hypoplasia	Cleft upper lip, Dental malocclusion, Hiatus hernia, Hypodontia, Cleft palate, Congenital diaphra...	OMIM:305600
X-Linked Hypophosphatemia	Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Eec Syndrome	Tooth agenesis, Taurodontia, Cleft palate, Microdontia, Carious teeth, Oral cleft, Abnormal denta...	ORPHA:1896
Rothmund-Thomson Syndrome Type 2	High palate, Tooth agenesis, Cleft palate, Abnormality of the dentition, Microdontia, Delayed eru...	ORPHA:221016
Hypophosphatemic Rickets	Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Odontodysplasia, ...	ORPHA:437
Rothmund-Thomson Syndrome Type 1	Tooth agenesis, Abnormality of the dentition, Delayed eruption of teeth, Microdontia, Carious tee...	ORPHA:221008
Incontinentia Pigmenti	Hypodontia, Camptodactyly of finger, Delayed eruption of teeth, Oral cleft, Umbilical hernia, Abn...	ORPHA:464
Lenz-Majewski Hyperostotic Dwarfism	Wide mouth, High, narrow palate, Cleft palate, Inguinal hernia, Bifid uvula, Facial hyperostosis,...	ORPHA:2658
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa	ORPHA:79404
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Umbilical hern...	ORPHA:534
Stickler Syndrome	Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Micrognathia, Malar flatt...	ORPHA:828
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dental malocclusion, Carious teeth, Atypical scarring of ski...	OMIM:133540
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	High palate, Wide mouth, Narrow mouth, Hip contracture, Reduced subcutaneous adipose tissue, Flex...	OMIM:619503
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	High palate, Multiple joint contractures, Dentinogenesis imperfecta, Micrognathia, Long philtrum,...	ORPHA:536467
Dyskeratosis Congenita, Autosomal Recessive 1	Oral leukoplakia, Microdontia, Carious teeth	OMIM:224230
Smith-Lemli-Opitz Syndrome	Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Congenital diaphragmatic he...	ORPHA:818
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Multiple lipomas, Carious teeth, Keloids, Odontoma	OMIM:175100
Familial Adenomatous Polyposis	Eruption failure, Lipoma, Supernumerary tooth, Abnormal cementum morphology, Abnormality of the d...	ORPHA:733
Tetrasomy 9P	High palate, Abnormal number of permanent teeth, Cleft palate, Micrognathia, Short philtrum, Bifi...	ORPHA:3310
Singleton-Merten Syndrome 1	Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up...	OMIM:182250
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Scarring, Abnormality of the dentition, Carious teeth, Abnormal tongue morphology, Abn...	ORPHA:158668
Proteus Syndrome	Tooth agenesis, Ovarian neoplasm, Lymphangioma, Splenomegaly, Cachexia, Neoplasm of the thymus, T...	ORPHA:744
22Q11.2 Deletion Syndrome	Narrow mouth, Malar flattening, Cleft palate, Inguinal hernia, Abnormality of the dentition, Shor...	ORPHA:567
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Mandibular aplasia, Abnormal dental ...	ORPHA:2556
Kindler Syndrome	Gingivitis, Oral leukoplakia, Periodontitis, Carious teeth	OMIM:173650
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Ramon Syndrome	Delayed eruption of teeth, Narrow palate, Gingival fibromatosis	OMIM:266270
Pallister-Killian Syndrome	Alveolar ridge overgrowth, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Everted low...	OMIM:601803
Williams Syndrome	Wide mouth, Dental malocclusion, Gingival overgrowth, Hypodontia, Macroglossia, Open bite, Everte...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Inguinal hernia, Camptodactyly of finger, Omphalocele, Abnormal dental enamel morphology	ORPHA:2273
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)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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Gene: Mmp20 MGI:1353466

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Mmp20 mutations

Histopathology

IMPC related publications

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Access Data Release 18.0 Data