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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
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	1.69×10^-07
abnormal seminal vesicle morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth color	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased total body fat amount	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	4.40×10^-05
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
increased prepulse inhibition	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.94×10^-05
enlarged thymus	Mmp20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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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 (413 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, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529

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

Disease	Matching phenotypes	Source
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	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, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Taurodontism	Taurodontia	OMIM:272700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Decreased response to growth hormone stimul...	ORPHA:2980
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology	ORPHA:2180
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Widely spaced teeth, Yellow-brown ...	OMIM:619229
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Oslam Syndrome	Carious teeth	ORPHA:2760
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth	OMIM:146300
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Conical tooth	OMIM:617475
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia	OMIM:264700
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Corneal scarring, Atypical...	OMIM:263700
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy...	OMIM:617052
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Isolated Anencephaly	Omphalocele, Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Abnormality of dental color	OMIM:163200
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:289157
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Carious teeth, Limb joint contracture, Hypodontia	OMIM:612079
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr...	OMIM:601701
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ...	OMIM:253000
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ...	OMIM:253010
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia	ORPHA:79396
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Osteogenesis Imperfecta, Type Xiii	Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Small for gestational ag...	ORPHA:666
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Scarring, Anisocytosis, Increased connective ti...	ORPHA:79277
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythrodontia, Scarring, Scarring alopecia of scalp, Splenomegaly, Erythroid hy...	ORPHA:95159
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Failure to ...	OMIM:612714
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate	OMIM:272460
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79444
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro...	OMIM:272430
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur...	OMIM:620107
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79443
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ...	ORPHA:2750
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:180849
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong...	ORPHA:2092
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221016
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221008
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Congenital contracture, Micrognathia	OMIM:619036
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Focal Dermal Hypoplasia	Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand	OMIM:309000
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Inguinal hernia, Den...	OMIM:619503
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of...	ORPHA:64
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca...	OMIM:133540
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl...	ORPHA:3310
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Carious tee...	ORPHA:744
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	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
Pallister-Killian Syndrome	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt...	OMIM:601803
Williams Syndrome	Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis	ORPHA:2273
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen...	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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mmp20 MGI:1353466

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Mmp20 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data