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Gene: Enam MGI:1333772

Gene Summary

Name:

enamelin

Synonyms:

abte

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
enlarged heart	Enam^em1(IMPC)Tcp	HOM	Early adult
abnormal heart morphology	Enam^em1(IMPC)Tcp	HOM	Early adult
small superior vagus ganglion	Enam^em1(IMPC)Tcp	HOM	Early adult
hydrometra	Enam^em1(IMPC)Tcp	HOM	Early adult

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Enam 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 Enam (2 diseases)
Human diseases predicted to be associated with Enam (1257 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Ib		Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ic		Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650

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

Disease	Matching phenotypes	Source
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Diastema, Dental Medial	Widely-spaced maxillary central incisors, Diastema	OMIM:125900
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Taurodontism	Taurodontia	OMIM:272700
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Junctional Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Trichodentoosseous Syndrome	Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Scarring alopecia of scalp, Carious teeth	OMIM:619787
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Carious teeth, Enamel hypoplasia	OMIM:226700
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel	OMIM:203550
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn...	ORPHA:251393
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti...	ORPHA:952
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:226670
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri...	OMIM:234250
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate	ORPHA:99329
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,...	OMIM:618363
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase...	OMIM:618761
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Widely spaced teeth	OMIM:613573
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ...	ORPHA:1133
Ramon Syndrome	Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:3019
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Oligodontia	OMIM:601345
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:612843
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Filippi Syndrome	Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh...	OMIM:272440
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo...	ORPHA:1515
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth, Shagreen patch	ORPHA:1816
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ...	OMIM:619719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth	OMIM:212780
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Ethanolaminosis	Cardiomegaly	OMIM:227150
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate	OMIM:615502
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite...	OMIM:613684
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased circulating lac...	OMIM:261000
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia	ORPHA:181
Bent Bone Dysplasia Syndrome 1	Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth	OMIM:614592
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Scarring alopecia of scalp, Natal tooth, Cleft palate	OMIM:617337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy...	OMIM:253250
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia	ORPHA:59303
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Craniometadiaphyseal Dysplasia	Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon...	OMIM:269300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion bor...	OMIM:619980
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Failure to thrive, Elevated circulating alkaline phosphatase concentration,...	OMIM:615198
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79411
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate	OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ...	OMIM:618727
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border	OMIM:618506
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ...	ORPHA:2863
Pachyonychia Congenita	Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth	ORPHA:2309
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth	OMIM:616901
Oculoskeletodental Syndrome	Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia	ORPHA:557003
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum	ORPHA:3010
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate	OMIM:605282
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho...	ORPHA:3270
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Delayed eruption of teeth, Omphalocele	OMIM:614450
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo...	ORPHA:1897
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Melorheostosis With Osteopoikilosis	Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi...	OMIM:619736
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ...	ORPHA:90322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted...	OMIM:617865
Odontochondrodysplasia	Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia	ORPHA:166272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia	OMIM:614381
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentration, Polycythe...	ORPHA:3202
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Familial Multiple Lipomatosis	Lipodystrophy, Premature eruption of permanent teeth, Increased adipose tissue, Odontogenic kerat...	ORPHA:199276
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum	ORPHA:88630
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth	OMIM:617802
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate	OMIM:613849
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth	ORPHA:1656
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth	ORPHA:2501
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion...	OMIM:226600
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla	ORPHA:2776
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth	OMIM:618825
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Immunodeficiency 49	Short philtrum, Micrognathia, Natal tooth, Umbilical hernia	OMIM:617237
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, ...	ORPHA:2169
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Natal tooth	OMIM:616395
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased circulating lactate dehydrogenase concentration...	ORPHA:232
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Ging...	ORPHA:137834
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth	OMIM:619356
Teebi Hypertelorism Syndrome 1	Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion, Omphalocele	OMIM:145420
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
Laron Syndrome	Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia	ORPHA:633
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Advanced eruption of teeth, Lipodystrophy, Loss of subcutaneous adipose tissue in lim...	ORPHA:2348
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Everted lower lip...	OMIM:610253
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi...	ORPHA:3220
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Decreased liver function, Extramedullary hema...	OMIM:617021
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b...	OMIM:249620
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm...	OMIM:619184
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	High palate, Mandibular prognathia, Dental malocclusion	OMIM:618292
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion	OMIM:619797
Dysosteosclerosis	Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth	ORPHA:1782
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Absent leukocyte alkaline phosphatase	OMIM:242880
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Scarf Syndrome	Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition...	ORPHA:363417
Hall-Riggs Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ...	ORPHA:2107
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F	ORPHA:46532
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening	ORPHA:2180
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs...	OMIM:265800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Mandibular prognathia, Dental malocclusion	ORPHA:1858
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla...	OMIM:170390
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid's bow, Microdontia, Thin ...	OMIM:619293
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M...	ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia	ORPHA:1264
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat...	OMIM:618342
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Umbilical hernia, Thick lower lip vermilion, Inguinal ...	ORPHA:261652
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Seckel Syndrome 1	Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg...	OMIM:210600
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp...	OMIM:225500
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Hypophosphatasia, Adult	Chondrocalcinosis, Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of p...	OMIM:146300
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta	OMIM:613982
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Elevated ...	OMIM:620366
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers...	ORPHA:763
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal dental morphology	OMIM:163200
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate	ORPHA:949
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Cranioectodermal Dysplasia 4	Taurodontia, Smooth philtrum, Thin vermilion border	OMIM:614378
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos...	OMIM:218400
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H...	ORPHA:582
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Oslam Syndrome	Carious teeth	ORPHA:2760
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel...	ORPHA:2980
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Microdontia	OMIM:112240
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T...	ORPHA:192
Coffin-Siris Syndrome 3	Long philtrum, Umbilical hernia, Delayed eruption of permanent teeth, Inguinal hernia, Thick verm...	OMIM:614608
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft palate	ORPHA:1997
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia, Elevated red c...	OMIM:300946
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Camptodactyly of finger...	ORPHA:2215
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border...	OMIM:616354
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Enamel hypoplasia, Delayed eruption of teeth	OMIM:277440
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Amelogenesis imperfecta	OMIM:617475
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Hypoplasia of the maxilla, Short philtrum, Premature loss of teeth	OMIM:156510
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Inguinal ...	ORPHA:96263
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Ingu...	OMIM:614607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ...	ORPHA:37553
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corp...	OMIM:611590
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove...	OMIM:619148
Familial Expansile Osteolysis	Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Fragile teeth, Thin...	OMIM:174810
Temtamy Syndrome	Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum	OMIM:218340
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Osteoglosphonic Dysplasia	Multiple unerupted teeth, Micrognathia, Inguinal hernia, Tooth agenesis	ORPHA:2645
Kilquist Syndrome	Hypoplasia of teeth, Mandibular prognathia, Wide mouth	OMIM:619080
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Elevated total serum tryptase, Decreased liver function, P...	ORPHA:98850
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Cigar...	OMIM:612350
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Cleft palate	OMIM:246560
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,...	OMIM:150400
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci...	OMIM:239100
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Abnormal palate morphology,...	ORPHA:1738
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia	ORPHA:2728
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition	OMIM:615802
Fgfr2-Related Bent Bone Dysplasia	Micrognathia, Natal tooth, Gingival overgrowth	ORPHA:313855
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Micrognathia, Oligodontia, Abse...	OMIM:224300
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ...	ORPHA:420561
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp...	ORPHA:199302
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum...	ORPHA:915
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Congenital diaphragmatic hernia, Abnormal palate morphology, Inguin...	ORPHA:2063
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Splenomegaly, ...	OMIM:176920
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Diastema, Microdontia	OMIM:619718
Orofacial Cleft 15	Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral...	OMIM:616788
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Cholesteryl Ester Storage Disease	Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hy...	OMIM:278000
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Raine Syndrome	Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mout...	OMIM:259775
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:610629
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96264
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Delayed eruption of permanent teeth	OMIM:113000
Maxillonasal Dysplasia	Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p...	ORPHA:1248
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Kabuki Syndrome 2	Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate	OMIM:300867
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T...	OMIM:620250
Codas Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth	ORPHA:1458
Lowry-Maclean Syndrome	High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg...	ORPHA:2409
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Tracheomalacia, Failure to thrive, Persistence of hemoglobin F...	OMIM:612561
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Pathologic fracture...	OMIM:259700
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Gingivitis	ORPHA:3194
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me...	OMIM:616943
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia...	ORPHA:2916
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo...	ORPHA:329475
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia	ORPHA:1390
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture	OMIM:612079
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat...	ORPHA:1798
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia	OMIM:608931
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio...	ORPHA:2712
Xfe Progeroid Syndrome	Corneal scarring, Absence of subcutaneous fat, Premature loss of teeth, Enamel hypoplasia	OMIM:610965
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Kleefstra Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Malar flatten...	ORPHA:261494
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion	OMIM:137550
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion	ORPHA:457365
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, Decreased methion...	OMIM:277410
Paget Disease Of Bone 4	Osteolysis, Elevated circulating alkaline phosphatase concentration	OMIM:606263
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Char Syndrome	Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev...	ORPHA:46627
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Failure to thrive, Dental crowding, Hypocholesterolem...	OMIM:610883
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Mandibuloacral Dysplasia	Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,...	ORPHA:2457
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the maxilla, Widely-spaced incisors	OMIM:618737
Mucopolysaccharidosis, Type Iva	Carious teeth, Widely spaced teeth, Grayish enamel, Wide mouth, Inguinal hernia, Mandibular progn...	OMIM:253000
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout...	ORPHA:1327
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Sotos Syndrome	High, narrow palate, Narrow jaw, Advanced eruption of teeth, High palate, Narrow palate, Mandibul...	OMIM:117550
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi...	OMIM:164200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A...	ORPHA:3253
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Vomiting, Elbow flexion contracture, Inguinal hernia, Hip contracture, Knee flexion c...	OMIM:616809
Hamamy Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo...	OMIM:611174
Short Syndrome	Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma...	ORPHA:3163
Scarf Syndrome	Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia	OMIM:312830
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ...	ORPHA:90321
Three M Syndrome 2	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ...	OMIM:612921
Endosteal Hyperostosis, Autosomal Dominant	Torus palatinus, Dental malocclusion	OMIM:144750
Smith-Magenis Syndrome	Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar...	ORPHA:819
Cerebellofaciodental Syndrome	Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion	OMIM:616202
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase, Thin upper lip vermilion, Dental crowding, Elevated circulating alkalin...	OMIM:618879
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat...	ORPHA:668
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulati...	OMIM:193100
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Majeed Syndrome	Failure to thrive, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Erythroid hyperplasia, A...	OMIM:609628
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t...	OMIM:620545
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Osteopenia, Decreased liver function, Persistence of hemoglobin ...	ORPHA:231222
Chst3-Related Skeletal Dysplasia	Flexion contracture, Delayed eruption of teeth, Long philtrum	ORPHA:263463
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum	OMIM:184260
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin...	ORPHA:280365
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Delayed eruption of teeth, Oligodontia	ORPHA:447896
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Persistence of primary teeth, Dental crowding, Umbilical hernia	OMIM:619769
Acrofacial Dysostosis, Catania Type	Micrognathia, Carious teeth, Malar flattening, Cleft palate	OMIM:101805
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem...	OMIM:619269
Immunodeficiency 9	Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis	OMIM:612782
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Malar f...	OMIM:266510
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Failure t...	OMIM:605814
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Elevated circulating a...	OMIM:600081
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis	ORPHA:3353
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Esophagitis, Macrocytic anemia, Neutropenia, Osteo...	OMIM:612562
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ...	OMIM:608612
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele...	OMIM:600785
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short philtrum, Mandibu...	ORPHA:2471
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Orofaciodigital Syndrome I	Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o...	OMIM:311200
Mucopolysaccharidosis, Type Ivb	Carious teeth, Widely spaced teeth, Grayish enamel, Wide mouth, Inguinal hernia, Mandibular progn...	OMIM:253010
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Accessory oral frenulum	OMIM:619142
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Microretrognathia	OMIM:616294
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening	OMIM:241310
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, H...	ORPHA:71
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Incompl...	OMIM:616300
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Tooth agenesis	ORPHA:808
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Hig...	OMIM:123790
Osteopetrosis, Autosomal Recessive 2	Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis	OMIM:259710
Trisomy 9P	Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth	ORPHA:236
Lacrimoauriculodentodigital Syndrome 2	Hypodontia, Conical tooth, Carious teeth, Microdontia	OMIM:620192
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Osteomalacia, Le...	ORPHA:289157
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel...	OMIM:601701
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology	ORPHA:1334
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi...	OMIM:615558
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Reduced subc...	ORPHA:769
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo...	ORPHA:1452
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M...	OMIM:234100
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hyp...	ORPHA:89937
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Micrognathia, Abnormal palate morphology, Lipoatrophy, Shagreen patch	ORPHA:2617
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Dorsocervical fat pad, Micrognathia, Narrow mouth, Ol...	ORPHA:391408
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, High palate, Mandibular prognathia	OMIM:300676
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:619073
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar...	ORPHA:2108
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:619484
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch...	OMIM:616834
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s...	OMIM:119600
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	High palate, Supernumerary tooth, Persistence of primary teeth	OMIM:619752
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia	OMIM:212750
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Atypical scarring of skin, Keloids, Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79410
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening	ORPHA:50945
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla...	ORPHA:73223
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet...	OMIM:600002
Hypophosphatasia, Infantile	Unossified vertebral bodies, Vomiting, Failure to thrive, Elevated plasma pyrophosphate, Increase...	OMIM:241500
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Joint contracture of the hand, Flexion contracture of toe, Natal tooth, Craniofacial...	OMIM:300373
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Median cleft palate, Median cleft upper lip...	OMIM:612651
Caffey Disease	Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos...	ORPHA:1310
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip	OMIM:620519
W Syndrome	Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen...	ORPHA:2804
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypophosphatemic rickets, Elevated c...	OMIM:241530
Marshall Syndrome	Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v...	OMIM:154780
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ...	ORPHA:444072
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Retrognathia, Microdontia	OMIM:210720
Dislocation Of The Hip-Dysmorphism Syndrome	Narrow mouth, Malar flattening, Inguinal hernia, Abnormal palate morphology, Prominence of the pr...	ORPHA:2412
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Narrow mouth, Camptodactyly of finger	ORPHA:1529
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pe...	ORPHA:231226
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia, Premature loss of teeth	OMIM:616353
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Delayed eruption of teeth	ORPHA:73272
Sanjad-Sakati Syndrome	Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi...	ORPHA:2323
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal te...	OMIM:615923
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Beta-Thalassemia	Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnorm...	ORPHA:848
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin...	OMIM:607812
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones...	ORPHA:73
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M...	ORPHA:2780
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency	OMIM:613680
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Elevated circulating aspartate aminotransferase concen...	OMIM:620375
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated circulating alk...	OMIM:214900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Inguinal herni...	ORPHA:1812
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Congenital Disorder Of Glycosylation, Type Iim	Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High...	OMIM:300896
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Micrognathia, Omphalocele	ORPHA:2484
Developmental And Epileptic Encephalopathy 100	Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip...	OMIM:619777
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum	ORPHA:261295
Pde4D Haploinsufficiency Syndrome	Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ...	ORPHA:439822
Squalene Synthase Deficiency	Retrognathia, Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Micro...	OMIM:618156
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro...	OMIM:190350
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ...	OMIM:615866
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po...	OMIM:615234
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Camptodactyly of finger, Umbilical hernia, Abnormal dental ...	ORPHA:2710
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Hepatosplenomegaly, Hyperbilirubinemia, Incre...	ORPHA:247598
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypoplasia	ORPHA:79396
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ...	ORPHA:2635
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Abnormality of the dentition, Delayed eruption of teeth, Gingivitis, Cleft palate	ORPHA:2314
Congenital Syphilis	Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun...	ORPHA:499009
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot...	OMIM:619658
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Schimke Immuno-Osseous Dysplasia	Abnormal primary molar morphology, Hypodontia, Microdontia	ORPHA:1830
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva...	OMIM:235510
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Absenc...	OMIM:269880
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Omphalocele	OMIM:600373
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia	OMIM:614856
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple...	ORPHA:457077
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Everted lower lip v...	ORPHA:1519
Recessive Dystrophic Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79409
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Abn...	OMIM:614886
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Hepatic failure, Increased mean corpuscular volume, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:620367
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Thin vermili...	ORPHA:2701
Beta-Thalassemia Major	Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pe...	ORPHA:231214
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Glycosylphosphatidylinositol Biosynthesis Defect 17	Osteomyelitis, High palate, Abnormality of alkaline phosphatase level, Hypertriglyceridemia	OMIM:618010
Castleman Disease	Myelofibrosis, Intestinal obstruction, Weight loss, Elevated circulating C-reactive protein conce...	ORPHA:160
Porphyria, Congenital Erythropoietic	Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring	OMIM:263700
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture, Elevated circulating alkalin...	OMIM:606631
Johanson-Blizzard Syndrome	Abnormality of the dentition, Microdontia, Delayed eruption of teeth, Oligodontia	ORPHA:2315
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab...	ORPHA:85199
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Renal cyst, Enamel hypoplasia, Cleft palate	OMIM:272460
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Cenani-Lenz Syndrome	High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum	ORPHA:3258
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ...	OMIM:252100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Cranioectodermal Dysplasia 3	Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion, Widely spaced teeth	OMIM:614099
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Dental malocclusion, Delayed eruption of teeth, Selective tooth agenes...	OMIM:305620
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Narrow mouth, Mandi...	ORPHA:1110
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Macro...	ORPHA:3071
Weismann-Netter Syndrome	Anemia, Abnormal cortical bone morphology	ORPHA:3344
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Long philtrum, Umbilical hernia, Ankyloglossia, Micrognathia, Congenital ...	ORPHA:2745
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Hypotriglyc...	ORPHA:14
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo...	ORPHA:289
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Camptodactyly of finger	ORPHA:85279
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Distal Duplication 18Q	Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, High palate	ORPHA:1716
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Median cleft palate, Inguinal hernia, Median cleft upper lip, O...	OMIM:269860
Graft Versus Host Disease	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Elevated circulating alkaline...	ORPHA:39812
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Inguinal her...	OMIM:151050
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Recon Progeroid Syndrome	Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thin vermilion border, Delayed er...	OMIM:620370
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Long philtrum, Hypocholesterolemia, Lipodystrophy, Wide mouth	OMIM:608776
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Dental malocclusion, Malar flattening, Diastema	ORPHA:436245
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Increased RBC distribution width, Pers...	OMIM:613673
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Diarrhea, F...	OMIM:212065
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft palate	OMIM:617925
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Emanuel Syndrome	Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption...	ORPHA:96170
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang...	ORPHA:293967
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Hyperuricemia, ...	OMIM:239000
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Failure to t...	OMIM:617093
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth	ORPHA:1231
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Abnormal palate morphology	ORPHA:1540
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Glossoptosis	ORPHA:93346
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent...	ORPHA:364577
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Retrognathia, Long philtrum, Elbow flexion contracture, Micrognathia, Narrow mouth...	OMIM:272430
Atelis Syndrome 1	High palate, Carious teeth, Long philtrum	OMIM:620184
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Umbilical hernia, Ingu...	OMIM:309900
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Genitopatellar Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia, Hip contracture, Knee flexion contracture...	ORPHA:85201
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla...	OMIM:603457
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Submucous cleft hard palate, Enamel agenesis, Thin u...	OMIM:614701
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Paget disease of bone, Elevated circulating alkaline phosphatase concentration, Elevated circulat...	OMIM:615422
Adnp Syndrome	Thick lower lip vermilion, Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Smooth ph...	ORPHA:404448
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Stickler Syndrome	Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b...	ORPHA:828
Immunodeficiency 114, Folate-Responsive	Lip fissure, Carious teeth, Aphthous ulcer	OMIM:620603
Eec Syndrome	Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodontia, Orofa...	ORPHA:1896
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow...	OMIM:248370
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental...	ORPHA:568
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Hypodontia, Abnorma...	ORPHA:659
Congenital Disorder Of Glycosylation, Type Iio	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased LDL cholester...	OMIM:616828
Acrodysostosis	Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia	ORPHA:950
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion...	OMIM:615873
Emanuel Syndrome	Broad jaw, Dental crowding, Long philtrum, Micrognathia, Congenital diaphragmatic hernia, Recurre...	OMIM:609029
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Joint contracture of the hand, Median cleft palate, Pericallosal lipom...	OMIM:136760
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Gapo Syndrome	Delayed eruption of teeth, Long philtrum, Umbilical hernia, Micrognathia, Abnormal palate morphol...	ORPHA:2067
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Glycosylphosphatidylinositol Biosynthesis Defect 11	Umbilical hernia, Tented upper lip vermilion, Inguinal hernia, Elevated circulating alkaline phos...	OMIM:616025
Axenfeld-Rieger Syndrome	Hypodontia, Hypoplasia of the maxilla, Everted lower lip vermilion, Microdontia	ORPHA:782
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Umbilical hernia, Inguinal hernia, Microdontia, Hypodontia, Everted lo...	OMIM:601499
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Rickets, Failur...	OMIM:227810
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79444
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia...	ORPHA:96169
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia, Congenital diaphragmatic hernia	OMIM:166300
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Protracted di...	ORPHA:67
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Smith-Lemli-Opitz Syndrome	Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:818
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cockayne Syndrome A	Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red...	OMIM:216400
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Retrognathia, Cleft ...	OMIM:620107
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Nail-Patella Syndrome	Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Knee f...	ORPHA:2614
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Lathosterolosis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste...	OMIM:607330
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Trichothiodystrophy	High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ...	ORPHA:33364
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border	ORPHA:228396
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ...	ORPHA:521445
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
Treacher-Collins Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zyg...	ORPHA:861
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Failure to thrive, Elevated circulating aspartate aminotran...	ORPHA:2088
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux...	ORPHA:79324
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho...	OMIM:167250
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super...	OMIM:615948
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Decreased beta-galactos...	OMIM:230600
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Generalized lipodystrophy, Hypoplasia of the maxilla, Congenital generalized lipodystrophy	OMIM:608154
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Inguinal hernia, Hepatic cysts, Anodontia, Microdontia,...	OMIM:218330
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteine...	ORPHA:96180
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Flynn-Aird Syndrome	Carious teeth	ORPHA:2047
Tuberous Sclerosis 1	Dental enamel pits, Renal cyst, Gingival fibromatosis, Shagreen patch	OMIM:191100
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Retrognathia, Long philtrum, Contractures of the large joints, Micrognathia,...	ORPHA:96092
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	OMIM:266270
Familial Adenomatous Polyposis 1	Carious teeth, Keloids, Eruption failure, Multiple lipomas, Odontoma, Supernumerary tooth	OMIM:175100
Bile Acid Synthesis Defect, Congenital, 3	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hepatitis, Failure to thrive, ...	OMIM:613812
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Pulp calcification, Microdontia	OMIM:606895
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor...	ORPHA:2769
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:619662
Hepatoerythropoietic Porphyria	Erythrodontia, Scarring, Scarring alopecia of scalp	ORPHA:95159
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Rickets, Fa...	OMIM:613658
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Short ph...	ORPHA:1598
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Keloids, Hypodontia, Talon cusp...	ORPHA:353281
Pallister-Hall Syndrome	Cleft upper lip, Microglossia, Natal tooth, Cleft palate	OMIM:146510
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Rothmund-Thomson Syndrome	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,...	ORPHA:2909
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Branchial cyst, Ankylogloss...	OMIM:620186
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia...	OMIM:247200
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog...	ORPHA:87
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia	OMIM:613848
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Mandibular prognathia	OMIM:620157
Cystic Echinococcosis	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology	ORPHA:93262
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis	ORPHA:53
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Large for gestati...	OMIM:616026
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia	OMIM:301108
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr...	OMIM:268400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Large for gestationa...	ORPHA:263455
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Thick vermilion border, Widely spaced teeth	OMIM:617102
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Inguinal hernia, Long philtrum	OMIM:620568
Attrv30M Amyloidosis	Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy	ORPHA:85447
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures	ORPHA:1486
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate	OMIM:108721
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Inguinal hernia	OMIM:610915
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Inguinal hernia, Submucou...	ORPHA:2250
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,...	ORPHA:1786
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Increased susceptibility to fractures, Elevated circulating alkaline phospha...	ORPHA:52430
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig...	ORPHA:476126
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular...	OMIM:101800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
X-Linked Hypophosphatemia	Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia	ORPHA:89936
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, A...	ORPHA:534
Cyanosis, Transient Neonatal	Anemia, Jaundice, Reticulocytosis, Methemoglobinemia	OMIM:613977
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Keloids, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow...	OMIM:601812
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Interphalangeal ...	OMIM:259600
Ane Syndrome	Carious teeth, Multiple joint contractures, Hypodontia, Lipoatrophy, Premature loss of teeth	ORPHA:157954
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Carious teeth, Long philtrum, Thin upper lip vermilion, Smooth philtrum, High palate	OMIM:620191
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin...	OMIM:167320
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Umbilical hernia, Open bite, Abnormal dental morphology, High palate, Mandib...	ORPHA:3079
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dental crowding, Retrognathia, Long philtrum, Umbilical hernia, Micrognathia, Open mouth, Inguina...	OMIM:620654
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures, Elevated circulating alkaline phosphatase concentration	OMIM:616833
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect	OMIM:619170
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Dysphagia, Thrombocytopenia	ORPHA:261250
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Micr...	ORPHA:2363
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho...	ORPHA:369950
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Multicystic kidney dysplasia, Lip pit, Lobula...	ORPHA:2750
Fibrodysplasia Ossificans Progressiva	Widely spaced teeth, Ectopic ossification in ligament tissue, Progressive cervical vertebral spin...	OMIM:135100
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Lipomas of eyelids	OMIM:167730
Pachydermoperiostosis	Gastrointestinal hemorrhage, Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone ...	ORPHA:2796
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M...	OMIM:301072
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79443
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Orofacial cleft, Odonto...	ORPHA:77301
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho...	ORPHA:245
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate, Accessory oral frenulum	ORPHA:79113
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Narrow mouth, Microdontia, High palat...	ORPHA:1307
Hennekam Syndrome	Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Camptod...	ORPHA:2136
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Camptodactyly of finger, Micrognathia, Thin upper lip vermilion, Sm...	OMIM:249000
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental...	ORPHA:2908
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl...	OMIM:300990
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R...	ORPHA:363444
Restrictive Dermopathy 1	Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ...	OMIM:275210
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal...	OMIM:311300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Gingival overgrowth, Panniculitis, Delayed eruption of teeth	ORPHA:508542
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Fibrous Dysplasia Of Bone	Abnormal facial skeleton morphology, Rickets, Increased circulating cortisol level, Abnormal mand...	ORPHA:249
Lead Poisoning	Delayed eruption of teeth	ORPHA:330015
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphata...	ORPHA:275761
Spondyloenchondrodysplasia	Dental malocclusion, Delayed eruption of teeth	ORPHA:1855
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Umb...	OMIM:135500
Johnson Neuroectodermal Syndrome	Carious teeth, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl...	OMIM:260400
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Restrictive Dermopathy	Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Micrognathia, Narrow mou...	ORPHA:1662
Cockayne Syndrome Type 3	Flexion contracture, Carious teeth, Enamel hypoplasia	ORPHA:90324
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Incontinentia Pigmenti	Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal d...	ORPHA:464
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate	ORPHA:1675
De Barsy Syndrome	Delayed eruption of teeth, Umbilical hernia, Narrow mouth, Inguinal hernia, Small, conical teeth,...	ORPHA:2962
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Carious teeth, Downturned corners of mouth, Micrognathia, Alveolar ridge overgrowth, High palate	OMIM:620070
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee...	OMIM:223370
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti...	OMIM:149730
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Focal Dermal Hypoplasia	Abnormality of the dentition, Multicystic kidney dysplasia, Camptodactyly of finger, Open bite, U...	ORPHA:2092
Oliver Syndrome	Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture...	ORPHA:2920
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Osteopenia, Pathologic fracture, Micrognathia, Hip contracture, Knee flexion c...	OMIM:156400
Osteoglophonic Dysplasia	Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Camptodact...	OMIM:166250
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis	ORPHA:93325
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ...	ORPHA:221008
Carpenter Syndrome 1	Hypoplasia of the maxilla, Joint contracture of the hand, Umbilical hernia, Agenesis of permanent...	OMIM:201000
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Multicystic kidney dysplasia, Erosion of oral mucosa, Renal cyst...	ORPHA:79404
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil...	OMIM:180700
Rothmund-Thomson Syndrome Type 2	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ...	ORPHA:221016
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Keloids, Corneal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Keloids, Corneal...	ORPHA:353277
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Thick lower lip vermilion	OMIM:613804
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Jaundice, Conjugated hyperbilirubinemia, Elevated circulating alkaline ...	OMIM:605479
Distal Duplication 5Q	Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Hernia, Thin vermilion border	ORPHA:96097
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypo...	OMIM:134600
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Scarring	OMIM:308300
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Congenital Erythropoietic Porphyria	Erythrodontia, Increased connective tissue, Scarring, Scarring alopecia of scalp	ORPHA:79277
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, ...	ORPHA:178303
Crouzon Syndrome	Narrow palate, Hypoplasia of the maxilla	ORPHA:207
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemi...	ORPHA:79302
Wiedemann-Rautenstrauch Syndrome	Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti...	OMIM:264090
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Enamel hypoplasia	OMIM:309000
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Keloids, Dental crowding, Retrogna...	OMIM:180849
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Cockayne Syndrome	Carious teeth, Congenital contracture, Dental malocclusion, Contractures of the large joints, Age...	ORPHA:191
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Gardner Syndrome	Abnormality of the dentition, Keloids, Multiple unerupted teeth, Odontoma, Lipoma, Supernumerary ...	ORPHA:79665
Chromosome 19Q13.11 Deletion Syndrome, Distal	Carious teeth, Retrognathia, Micrognathia, Reduced subcutaneous adipose tissue, Inguinal hernia, ...	OMIM:613026
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia, Hypocal...	OMIM:612301
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Vomiting, Portal hypertension...	ORPHA:53035
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel	OMIM:248250
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Narrow mouth, Inguinal hernia, Malar flattening, Lipodystrophy, Hig...	OMIM:219200
Mucopolysaccharidosis, Type Vi	Carious teeth, Delayed eruption of teeth, Umbilical hernia, Inguinal hernia, Macroglossia, Flexio...	OMIM:253200
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:30391
Cornelia De Lange Syndrome 1	High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil...	OMIM:122470
Primary Biliary Cholangitis	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Abnormal c...	ORPHA:186
Apert Syndrome	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Malar flattening, Narrow palate, Man...	OMIM:101200
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Mandibular prognathia, Facial hyperostosis, Abnormal dental ena...	ORPHA:2658
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Open mouth, Short lingual ...	ORPHA:293939
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated circulating...	ORPHA:69665
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Robinow Syndrome	Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hernia, Ankylog...	ORPHA:97360
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Long philtrum, ...	ORPHA:363611
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, A...	OMIM:618278
Melnick-Needles Syndrome	Tooth malposition, Delayed eruption of teeth, Micrognathia, Omphalocele, Obtuse angle of mandible...	OMIM:309350
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, High palate, Flexion contracture	OMIM:218000
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Ele...	ORPHA:85443
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Joint hypermobility, Thin bony cortex, Generalized osteoporosis, Recurrent frac...	OMIM:617952
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Umbilical hernia, Oligodontia	ORPHA:2095
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Micrognathia, Narrow mouth	OMIM:618810
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick l...	OMIM:280000
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma...	OMIM:263400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:300009
Crouzon Syndrome	Hypoplasia of the maxilla, High palate, Mandibular prognathia, Dental crowding	OMIM:123500
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem...	OMIM:127000
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Oncogenic Osteomalacia	Pathologic fracture, Fibrous dysplasia of the bones, Hypocalcemia, Elevated circulating alkaline ...	ORPHA:352540
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Thin vermilion border, Supernumerary tooth, Malar flattening, Thick vermilion border	ORPHA:86818
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Carious teeth	ORPHA:220393
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Oral leukoplakia, Microdontia	OMIM:224230
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl...	OMIM:105830
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline...	OMIM:615716
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Umbilical hernia...	OMIM:230740
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Pfeiffer Syndrome	Hypoplasia of the maxilla, High palate, Mandibular prognathia, Dental crowding	OMIM:101600
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Kaufman Oculocerebrofacial Syndrome	Carious teeth, Failure to thrive, Diastema, Hypocholesterolemia, Micrognathia, Narrow mouth, Thin...	OMIM:244450
Marshall Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p...	ORPHA:560
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Downturned corners of mouth, Inguinal hernia, Absent uvula, Thin upper lip vermilio...	OMIM:268310
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Congenital dia...	OMIM:305600
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Inguinal hernia, Omphalocel...	OMIM:608149
Van Maldergem Syndrome 1	Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented...	OMIM:601390
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, K...	OMIM:620454
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Thin upper lip vermilion, S...	OMIM:309520
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cowden Syndrome 5	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathia, Narrow mouth, Ovar...	OMIM:615108
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly	ORPHA:615
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Atypical scarring of skin, Keloids, Carious teeth, Micrognathia, Hi...	ORPHA:783
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Poikiloderma With Neutropenia	Carious teeth, Retrognathia, Long philtrum, Micrognathia, Recurrent sinusitis	OMIM:604173
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Dental crowding, Delayed eruption of primary teeth	OMIM:617799
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Dubowitz Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Craniosynostosis And Dental Anomalies	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ...	OMIM:614188
Distal Deletion 19P	Hypoplasia of the maxilla, Keloids, Umbilical hernia, Vaginal hernia, Short philtrum, Cleft palate	ORPHA:96129
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo...	ORPHA:238468
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat...	OMIM:268305
Developmental And Epileptic Encephalopathy 80	Failure to thrive, Long philtrum, Micrognathia, Tented upper lip vermilion, Protruding tongue, El...	OMIM:618580
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Congenital diaphragmatic hernia, Smo...	OMIM:617602
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Gastroesophageal reflux, Umbilical hernia, Inguinal hernia, Splenic cy...	OMIM:618188
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Increased subcutaneous truncal adipose tissue, Natal tooth, Downtur...	ORPHA:3455
Microphthalmia, Syndromic 2	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Per...	OMIM:300166
Camurati-Engelmann Disease	Carious teeth, Mandibular prognathia, Reduced subcutaneous adipose tissue	OMIM:131300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Elevated...	OMIM:613095
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Long philtrum, Atrophic scars, Micrognathia, Multiple j...	ORPHA:536467
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Osteopenia, Downturned corners of mouth, Long philtrum, Obesity, Micrognathi...	ORPHA:369837
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Pericardial effusion	OMIM:614702
Coffin-Siris Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Thin upper lip vermilion, Hernia, Broad phi...	ORPHA:1465
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Increased circulating very long-chain fatty acid concen...	OMIM:614866
Doors Syndrome	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ...	ORPHA:79500
Cockayne Syndrome B	Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red...	OMIM:133540
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Thick vermil...	OMIM:613805
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate	OMIM:614261
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hypoplasia of the maxilla, Mandibular prognathia, Diastema, Furrowed tongue, Micrognathia, Thin u...	OMIM:300534
Prolidase Deficiency	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone	ORPHA:742
Cowden Syndrome 6	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathia, Narrow mouth, Ovar...	OMIM:615109
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:94093
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, E...	OMIM:619503
Turnpenny-Fry Syndrome	Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ...	OMIM:618371
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Camptod...	OMIM:231070
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Downturned corners of mouth, Cleft upper lip, Delayed ossification of carpal bones, Tented upper ...	OMIM:239300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Downturned corners of mouth, Malar flattening, Elevated circulating alkaline phosphat...	OMIM:618590
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Wrinkly Skin Syndrome	Carious teeth, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Inguinal hernia, Smoot...	ORPHA:2834
Frontorhiny	Hypoplasia of the maxilla, Camptodactyly of finger, Hypoplastic frontal sinuses, Pericallosal lip...	ORPHA:391474
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Carious teeth, Craniofacial osteosclerosis, Delaye...	ORPHA:1328
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Lipoma, S...	ORPHA:733
Pitt-Hopkins Syndrome	Tooth malposition, Failure of eruption of permanent teeth, Abnormal palate morphology, Hiatus her...	ORPHA:2896
Wrinkly Skin Syndrome	Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Ing...	OMIM:278250
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Micrognathia, Wide mouth	OMIM:612731
Kindler Syndrome	Gingivitis, Carious teeth, Periodontitis, Oral leukoplakia	OMIM:173650
Pallister-Hall Syndrome	Bifid uvula, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Umbilical hernia, Inguinal ...	ORPHA:672
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Everted lower lip vermilion, Elevated circulating creatine kinase conce...	ORPHA:314389
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hemochromatosis, Type 1	Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg...	OMIM:235200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Long philtrum, Smooth philtrum, Thin vermilion border, High palate, Fl...	ORPHA:481152
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:269920
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, Decreased liver function, Widely spaced teeth, Elev...	OMIM:618268
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevate...	ORPHA:247691
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up...	OMIM:182250
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Van Maldergem Syndrome 2	Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented...	OMIM:615546
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Chapped lip, Abnormal tongue morphology, Abnormal de...	ORPHA:158668
Autosomal Recessive Malignant Osteopetrosis	Premature loss of primary teeth, Delayed eruption of teeth	ORPHA:667
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Vomiting, Secondary hyperaldosteronism, Reduced circulating...	ORPHA:90363
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotide-cytochro...	OMIM:250800
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Dent Disease	Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabe...	ORPHA:1652
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth	ORPHA:79259
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Bloom Syndrome	Agenesis of maxillary lateral incisor, Malar flattening	OMIM:210900
Arboleda-Tham Syndrome	Mandibular prognathia, Microretrognathia, Downturned corners of mouth, Peg-shaped maxillary later...	OMIM:616268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Elevated circulating hepatic transaminase concentrati...	OMIM:620005
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Multiple lipomas, Lipomas of eyelids	ORPHA:2399
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Umbilical...	ORPHA:1101
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z...	ORPHA:193
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Inguinal hernia, Hypodontia, Broad philtrum, Curved l...	OMIM:305400
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Myhre Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Unilateral cle...	ORPHA:2588
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist...	ORPHA:2785
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive	ORPHA:98791
Developmental And Epileptic Encephalopathy 95	Umbilical hernia, Widely spaced teeth, Gingival overgrowth, Inguinal hernia, Elevated circulating...	OMIM:618143
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Cleft lip, Conical tooth, Selective tooth agenesis, Cleft upper lip, W...	OMIM:106260
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Dental malocclusion, Umb...	OMIM:182212
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly	OMIM:212140
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, O...	OMIM:620609
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Schinzel-Giedion Syndrome	Macroglossia, Retrognathia, Delayed eruption of teeth, Umbilical hernia, Micrognathia, Inguinal h...	ORPHA:798
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Knee flexion contrac...	OMIM:618162
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Wild Type Attr Amyloidosis	Chronic diarrhea, Elevated circulating alkaline phosphatase concentration, Weight loss, Intermitt...	ORPHA:330001
Tetrasomy 9P	Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam...	ORPHA:3310
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Camptodactyly of finger, Microdont...	OMIM:143095
Nablus Mask-Like Facial Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of the hand, Retrognat...	OMIM:608156
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Peters-Plus Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Umbilical hernia,...	OMIM:261540
Cowden Syndrome 1	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathia, Narrow mouth, Ovar...	OMIM:158350
3Mc Syndrome 2	Downturned corners of mouth, Cleft upper lip, Prominence of the premaxilla, Broad philtrum, High ...	OMIM:265050
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn...	ORPHA:3206
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Retrognathia, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persiste...	ORPHA:740
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Wide mouth, Long philtrum	ORPHA:251061
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Abnormal dental enamel morphology, Micrognathia, Congenital diaphragmatic hernia, M...	ORPHA:2556
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, Large for gestationa...	OMIM:300868
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Martsolf Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Long philtrum, Micrognathia, Inguinal hernia, Short...	OMIM:212720
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Irregular dentition, Camptodactyly	ORPHA:314679
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Coffin-Siris Syndrome 1	Conical tooth, Retrognathia, Long philtrum, Thick lower lip vermilion, Delayed eruption of teeth,...	OMIM:135900
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Portal hypertension, Splenomegaly, Leu...	ORPHA:729
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Micrognathia, Tented upper lip vermilion, Elevated circ...	ORPHA:247262
Weill-Marchesani Syndrome 1	Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abnormal dental morphology	OMIM:277600
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline phosphatase concentration...	OMIM:614749
Cerebrocostomandibular Syndrome	Carious teeth, Cleft lip, Long philtrum, Elbow flexion contracture, Cleft soft palate, Micrognath...	OMIM:117650
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilion, Hypodontia, Microdontia, Short ...	OMIM:180500
Primary Hyperoxaluria	Abnormality of the dentition, Abnormal dental pulp morphology, Rootless teeth	ORPHA:416
Pallister-Killian Syndrome	Bifid uvula, Camptodactyly of 2nd-5th fingers, Long philtrum, Umbilical hernia, Delayed eruption ...	OMIM:601803
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Thick vermilion border, Shor...	OMIM:609460
Sponastrime Dysplasia	Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ...	ORPHA:93357
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Bifid uvula, Microretrognathia, Dental crowding, Failure to thrive, Long philtru...	OMIM:270400
22Q11.2 Deletion Syndrome	Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Abnormal dental ena...	ORPHA:567
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Spondyloocular Syndrome	Osteopenia, Femur fracture, Thin bony cortex, Decreased body weight	OMIM:605822
Charge Syndrome	Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Umbilical hernia, N...	ORPHA:138
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	ORPHA:391428
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Hepatosplenom...	ORPHA:84081
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi...	ORPHA:3109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias	OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Cornelia De Lange Syndrome	Downturned corners of mouth, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Micro...	ORPHA:199
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:171
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints	OMIM:309583
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy...	ORPHA:79330
Van Den Ende-Gupta Syndrome	High, narrow palate, Joint contracture of the hand, Hypoplasia of the maxilla, Dental crowding, C...	OMIM:600920
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Lymphopenia...	OMIM:613471
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Mirizzi Syndrome	Vomiting, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated c...	ORPHA:521219
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Camptodactyly of finge...	ORPHA:2554
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Downturned corners of mouth, Long philtrum, Micrognathia, Inguinal hernia, Elevated circulating a...	OMIM:618548
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Saethre-Chotzen Syndrome	Open bite, Narrow palate, Hypoplasia of the maxilla, Cleft palate	ORPHA:794
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pu...	ORPHA:99867
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Camptodactyly of finger, Pericallosal ...	ORPHA:306542
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Genitopatellar Syndrome	Micrognathia, Knee flexion contracture, Delayed eruption of teeth, Hip contracture	OMIM:606170
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ...	OMIM:600803
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Shprintzen-Goldberg Syndrome	High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Camptodactyly of finger, Umbilical ...	ORPHA:2462
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Aplasia of the right hemidiaphragm, Widely spaced teeth, Ankyloglossia, Mi...	OMIM:619841
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin, Malar flattening, Joint hypermobility	OMIM:619543
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Vomiting, Hyperalaninemia, Elevated circulating alkaline phosphatase concentration	OMIM:620451
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, C...	OMIM:235730
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Micrognathia, Narrow mouth, Thick vermilion border	OMIM:613803
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Umbilical h...	ORPHA:920
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy	OMIM:617713
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Wide mouth, Cleft palate, Elevated circulating alkaline phosphatase c...	OMIM:614207
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Cheilitis	ORPHA:2273
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,...	ORPHA:2044
Microphthalmia With Limb Anomalies	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Camptodactyly of 2nd-5th fingers, Long p...	ORPHA:1106
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Selective tooth agenesis, Cleft upper lip, Inguinal her...	OMIM:129900
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Umbilical hernia, Gingival overgrowth, Inguinal hern...	ORPHA:93
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous sy...	OMIM:105210
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine	ORPHA:79345
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Carious teeth, Selective tooth agenesis, Cleft upper lip, Malar flatte...	OMIM:604292
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Umbilical hernia, Elbow flexion cont...	OMIM:608328
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Testicul...	ORPHA:465508
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e...	ORPHA:57777
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy	OMIM:619259
Aicardi Syndrome	Cleft upper lip, Prominence of the premaxilla, Hiatus hernia, Multiple lipomas, Short philtrum, C...	ORPHA:50
Frank-Ter Haar Syndrome	Camptodactyly, Osteopenia, Cortical irregularity, Osteoporosis	OMIM:249420
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Joint hypermobility, Persistence of hemoglobin F	OMIM:617101
Marshall-Smith Syndrome	Eclabion, Microretrognathia, Retrognathia, Umbilical hernia, Gingival overgrowth, Irregular denti...	OMIM:602535
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Meier-Gorlin Syndrome 1	Hypoplasia of the maxilla, Joint contracture of the hand, Micrognathia, Narrow mouth, Microdontia...	OMIM:224690
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension	OMIM:268800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:562639
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Osteopenia, Gastroesophageal reflux, F...	OMIM:619534
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Gingival overgrowth, Inguinal hernia, R...	OMIM:213980
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Williams Syndrome	Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Long philtrum, Umbilical he...	ORPHA:904
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Cutis Laxa, Autosomal Recessive, Type Iic	Hypoplasia of the maxilla, Dental crowding, Long philtrum, Narrow mouth, Reduced subcutaneous adi...	OMIM:617402
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Proteus Syndrome	Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Open mouth, Abnormal subcutaneo...	ORPHA:744
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy	ORPHA:268
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:64
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Narrow palate, Cleft palate	OMIM:101400
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphobla...	OMIM:608232
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Azoospermia, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:602782
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:124000
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:261537
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Intermittent jaundice, Weight loss, Nausea, Elevated al...	ORPHA:100086
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Aicardi Syndrome	Cleft upper lip, Prominence of the premaxilla, Hiatus hernia, Lipoma, Cleft palate	OMIM:304050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Joint stiffness, Abnormal hemoglobin, Constipation, Anemia, Flexion cont...	ORPHA:847
Myhre Syndrome	Hypoplasia of the maxilla, Cleft lip, Narrow mouth, Malar flattening, Thin upper lip vermilion, C...	OMIM:139210
Sotos Syndrome	Abnormality of the dentition, Ankle flexion contracture, Umbilical hernia, Agenesis of permanent ...	ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid uvula, Abnormal jaw morphology, Tooth malposition, Dental crowding, Submucous cleft of soft...	ORPHA:261552
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology	ORPHA:3320
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Juvenile Nephropathic Cystinosis	Hypouricemia, Vomiting, Failure to thrive, Elevated circulating creatinine concentration, Hypocal...	ORPHA:411634
Zttk Syndrome	Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Downturned corners of mouth...	OMIM:617140
Bartsocas-Papas Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Oral synechia, Micrognathia, Inguinal hernia, Omphalo...	OMIM:263650
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Micrognathia, Inguinal hernia, Congenital diaphragmatic hernia, Prominence of the p...	OMIM:614437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy	OMIM:608836
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:308552
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly	OMIM:608013
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:603903
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Greenberg Dysplasia	Hypoplasia of the maxilla, Micrognathia, Retrognathia	OMIM:215140
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Johanson-Blizzard Syndrome	Agenesis of permanent teeth, Hypoplasia of the primary teeth, Downturned corners of mouth, Long p...	OMIM:243800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, HbH hemoglobin, Umbilical hernia, Constipation, Hypochromic microcytic a...	OMIM:301040
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom...	OMIM:130650
Histiocytoid Cardiomyopathy	Optic atrophy, Polycystic ovaries, Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Pathologic fracture, Knee flexion contracture, Thickened cortex of lon...	OMIM:601559
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Cleft upp...	OMIM:309800
Alkaptonuria	Hemolytic anemia, Joint stiffness, Increased susceptibility to fractures, Methemoglobinemia, Arth...	ORPHA:56
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Single ventricle	OMIM:619879
Mucopolysaccharidosis Type 3	Optic atrophy, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, ...	ORPHA:581
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Branchiooculofacial Syndrome	Abnormality of the dentition, Atypical scarring of skin, Cleft upper lip, Elbow flexion contractu...	OMIM:113620
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Interphalangeal joint contracture of fing...	ORPHA:96334
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thickened cortex of ...	OMIM:269150
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular...	ORPHA:1677
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:230000
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Abnormality of alkaline phosphatase level, Limited elbow extension, Jo...	OMIM:300106
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
Ogden Syndrome	Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Patent foramen ovale, V...	OMIM:300855
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:252500
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Bohring-Opitz Syndrome	Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology	ORPHA:97297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Cryptorchidism, Patent foramen ovale	OMIM:620371
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Cleft lip, Retrognathia, Median pseudocleft lip, Micrognathia, Inguina...	OMIM:616462
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epididymitis, Congenital hydrocele	OMIM:620376
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal...	ORPHA:2729
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Primrose Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, Thick lower lip vermilion, Increased size...	OMIM:259050
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Ventricular septal defect...	OMIM:274000
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:365
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Hypoplasia of the maxilla, Downturned corners of mouth, Submucous cleft soft palate,...	ORPHA:500150
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thickened cortex of long bones	ORPHA:488434
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Multicystic kidney dysplasia, Cleft upper lip, Micrognathia, Branchial...	OMIM:164210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Generalized Arterial Calcification Of Infancy	Vomiting, Osteomalacia, Failure to thrive in infancy, Hypophosphatemic rickets, Abnormal calcific...	ORPHA:51608
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Micropenis	ORPHA:51
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cryptorchidism, Cardiomegaly, Hepatomeg...	ORPHA:116
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe...	OMIM:619991
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Epididymitis, Cardiomegaly, Splenomegaly	OMIM:256040
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular septal defect, Bi...	OMIM:236680
Townes-Brocks Syndrome 1	Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe...	OMIM:107480
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Mitral valve prolapse, Uterine prolapse, Cervical ins...	OMIM:130050
Wolf-Hirschhorn Syndrome	Precocious puberty, Cryptorchidism, Ventricular septal defect, Aplasia of the uterus, Atrial sept...	OMIM:194190
17Q11 Microdeletion Syndrome	Osteopenia, Thickened cortex of long bones, Leukemia, Osteoporosis, Osteolysis	ORPHA:97685
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Mitral valve prolaps...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Norrie Disease	Optic atrophy, Uterine rupture, Cryptorchidism	ORPHA:649
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Tooth - MPATH pathological process term dysplasia	Enam^em1(IMPC)Tcp	HOM		Early adult

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 Enam.

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

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MGI Allele	Allele Type	Produced
Enam^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Enam^em1(IMPC)Tcp	Intra-exon deletion	Mice, Tissue

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: Enam MGI:1333772

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Enam mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data